ClinVar for MedGen (Select 816002) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393908	NM_020987.5(ANK3):c.2706C>G (p.Tyr902Ter)	ANK3 (Y902* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GLikely pathogenic
Select item 3377515	NM_020987.5(ANK3):c.1642G>A (p.Ala548Thr)	ANK3 (A169T +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3376449	NM_020987.5(ANK3):c.3533G>T (p.Gly1178Val)	ANK3 (G1172V +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3362769	NM_020987.5(ANK3):c.1182T>A (p.Asn394Lys)	ANK3 (N15K +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3362685	NM_001372044.2(SHANK3):c.2129G>A (p.Gly710Glu)	SHANK3 (G710E)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GLikely benign
Select item 3256665	NM_020987.5(ANK3):c.4867C>T (p.Arg1623Ter)	ANK3 (R1623*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GLikely pathogenic
Select item 3242565	NM_020987.5(ANK3):c.6457T>C (p.Phe2153Leu)	ANK3 (F2153L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3234929	NM_020987.5(ANK3):c.2611G>A (p.Glu871Lys)	ANK3 (E854K +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3066308	NM_020987.5(ANK3):c.815T>C (p.Leu272Ser)	ANK3 (L255S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3065525	NM_020987.5(ANK3):c.1069A>T (p.Asn357Tyr)	ANK3 (N340Y +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3024109	NM_020987.5(ANK3):c.1495G>T (p.Asp499Tyr)	ANK3 (D120Y +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3024108	NM_020987.5(ANK3):c.3932T>C (p.Met1311Thr)	ANK3 (M1305T +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2688570	NM_020987.5(ANK3):c.4345G>T (p.Asp1449Tyr)	ANK3 (D1449Y)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2688569	NM_020987.5(ANK3):c.2911G>A (p.Asp971Asn)	ANK3 (D105N +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2663777	NM_020987.5(ANK3):c.3380C>T (p.Thr1127Met)	ANK3 (T1121M +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2585353	NM_020987.5(ANK3):c.8734T>C (p.Ser2912Pro)	ANK3 (S2912P)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2585345	NM_020987.5(ANK3):c.11546A>G (p.Glu3849Gly)	ANK3 (E3849G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2584974	NM_020987.5(ANK3):c.9035T>C (p.Ile3012Thr)	ANK3 (I3012T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2584973	NM_020987.5(ANK3):c.11543G>A (p.Gly3848Glu)	ANK3 (G3848E)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2584634	NM_020987.5(ANK3):c.11591A>G (p.Lys3864Arg)	ANK3 (K3864R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2582394	NM_020987.5(ANK3):c.4766C>T (p.Pro1589Leu)	ANK3 (P1589L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2500054	NM_020987.5(ANK3):c.7954C>T (p.His2652Tyr)	ANK3 (H2652Y)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2442064	NM_020987.5(ANK3):c.2669A>G (p.Lys890Arg)	ANK3 (K24R +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2439086	NM_020987.5(ANK3):c.569C>T (p.Ser190Leu)	ANK3 (S173L +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2439085	NM_020987.5(ANK3):c.12294C>T (p.Ala4098=)	ANK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439083	NM_020987.5(ANK3):c.3997A>G (p.Met1333Val)	ANK3 (M1327V +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2439082	NM_020987.5(ANK3):c.5992C>T (p.Arg1998Trp)	ANK3 (R1998W)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 2433810	NM_020987.5(ANK3):c.1863_1864del (p.Ala622fs)	ANK3 (A605fs +2 more)	Deletion (frameshift variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GLikely pathogenic
Select item 2430260	NM_020987.5(ANK3):c.631C>T (p.Arg211Ter)	ANK3 (R194* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GLikely pathogenic
Select item 2192943	NM_020987.5(ANK3):c.8773T>G (p.Ser2925Ala)	ANK3 (S2925A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2183403	NM_020987.5(ANK3):c.8731G>A (p.Gly2911Ser)	ANK3 (G2911S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GUncertain significance
Select item 1679638	NM_020987.5(ANK3):c.2836G>C (p.Glu946Gln)	ANK3 (E80Q +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 1675418	NM_020987.5(ANK3):c.9962A>G (p.Glu3321Gly)	ANK3 (E3321G)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GUncertain significance
Select item 1674438	NM_020987.5(ANK3):c.1267G>A (p.Gly423Ser)	ANK3 (G406S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1524718	NM_020987.5(ANK3):c.7501C>T (p.Arg2501Trp)	ANK3 (R2501W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1515430	NM_020987.5(ANK3):c.7928A>G (p.Asn2643Ser)	ANK3 (N2643S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1506859	NM_020987.5(ANK3):c.5768T>G (p.Val1923Gly)	ANK3 (V1923G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1429615	NM_020987.5(ANK3):c.3728G>A (p.Arg1243His)	ANK3 (R1237H +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GUncertain significance
Select item 1408693	NM_020987.5(ANK3):c.3604A>G (p.Ile1202Val)	ANK3 (I1196V +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1404454	NM_020987.5(ANK3):c.9598A>G (p.Ile3200Val)	ANK3 (I3200V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GUncertain significance
Select item 1400074	NM_020987.5(ANK3):c.12143C>T (p.Ser4048Leu)	ANK3 (S4048L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1399528	NM_020987.5(ANK3):c.7987G>A (p.Glu2663Lys)	ANK3 (E2663K)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +2 more	GUncertain significance
Select item 1389405	NM_020987.5(ANK3):c.9341T>C (p.Val3114Ala)	ANK3 (V3114A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1370441	NM_020987.5(ANK3):c.4459T>C (p.Ser1487Pro)	ANK3 (S1487P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1341824	NM_020987.5(ANK3):c.1491+4T>C	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 1341813	NM_020987.5(ANK3):c.12229A>C (p.Ser4077Arg)	ANK3 (S4077R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 1338476	NM_020987.5(ANK3):c.5773GAG[1] (p.Glu1926del)	ANK3 (E1926del)	Microsatellite (inframe_deletion +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1329490	NM_020987.5(ANK3):c.13024A>C (p.Ser4342Arg)	ANK3 (S1826R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 1298486	NM_020987.5(ANK3):c.671A>G (p.Asn224Ser)	ANK3 (N207S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1298482	NM_020987.5(ANK3):c.10397T>A (p.Val3466Asp)	ANK3 (V3466D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1192431	NM_020987.5(ANK3):c.2479-74T>C	ANK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192430	NM_020987.5(ANK3):c.12686+49A>C	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 1192429	NM_020987.5(ANK3):c.13066-62dup	ANK3	Duplication (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GBenign
Select item 1192428	NM_020987.5(ANK3):c.13066-44C>A	ANK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192395	NM_020987.5(ANK3):c.13066-33T>A	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 1192394	NM_020987.5(ANK3):c.*19+55T>A	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 1192393	NM_020987.5(ANK3):c.*19+56T>A	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 1192392	NM_020987.5(ANK3):c.*19+77T>A	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 1192391	NM_020987.5(ANK3):c.*19+88G>T	ANK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184362	NM_020987.5(ANK3):c.3970G>A (p.Val1324Ile)	ANK3 (V1318I +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GUncertain significance
Select item 1184343	NM_020987.5(ANK3):c.5183C>T (p.Ser1728Phe)	ANK3 (S1728F)	Single nucleotide variant (intron variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 1098658	NM_020987.5(ANK3):c.1939G>A (p.Ala647Thr)	ANK3 (A630T +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 1050844	NM_020987.5(ANK3):c.2125C>T (p.Arg709Ter)	ANK3 (R692* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GLikely pathogenic
Select item 1033564	NM_020987.5(ANK3):c.12596-480C>G	ANK3 (S1612C +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 1033563	NM_020987.5(ANK3):c.11155C>T (p.Arg3719Cys)	ANK3 (R3719C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 1030749	NM_020987.5(ANK3):c.9965C>T (p.Ser3322Phe)	ANK3 (S3322F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1030748	NM_020987.5(ANK3):c.6122T>C (p.Ile2041Thr)	ANK3 (I2041T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 1030747	NM_020987.5(ANK3):c.3218A>G (p.Lys1073Arg)	ANK3 (K1074R +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GUncertain significance
Select item 1030746	NM_020987.5(ANK3):c.2467A>G (p.Met823Val)	ANK3 (M806V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 999399	NM_020987.5(ANK3):c.1750C>A (p.Leu584Met)	ANK3 (L567M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 977447	NM_020987.5(ANK3):c.3488A>G (p.Gln1163Arg)	ANK3 (Q1157R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 930815	NM_020987.5(ANK3):c.1361A>G (p.His454Arg)	ANK3 (H437R +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 930814	NM_020987.5(ANK3):c.6715C>T (p.Arg2239Cys)	ANK3 (R2239C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 930644	NM_020987.5(ANK3):c.1492-12C>A	ANK3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930643	NM_020987.5(ANK3):c.13130C>T (p.Ser4377Leu)	ANK3 (S4377L +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GUncertain significance
Select item 930429	NM_020987.5(ANK3):c.8208A>C (p.Glu2736Asp)	ANK3 (E2736D)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 918004	NM_020987.5(ANK3):c.11033del (p.Pro3678fs)	ANK3 (P3678fs)	Deletion (frameshift variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GPathogenic
Select item 872694	NM_020987.5(ANK3):c.5981C>T (p.Ser1994Leu)	ANK3 (S1994L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 802577	NM_020987.5(ANK3):c.1690-15dup	ANK3	Duplication (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 802576	NM_020987.5(ANK3):c.2659C>T (p.Gln887Ter)	ANK3 (Q21* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GPathogenic
Select item 802575	NM_020987.5(ANK3):c.3727C>T (p.Arg1243Cys)	ANK3 (R1237C +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 732379	NM_020987.5(ANK3):c.11678G>C (p.Ser3893Thr)	ANK3 (S3893T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +2 more	GConflicting classifications of pathogenicity
Select item 729719	NM_020987.5(ANK3):c.4403G>A (p.Arg1468His)	ANK3 (R1460H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 713120	NM_020987.5(ANK3):c.3984G>A (p.Leu1328=)	ANK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 587453	NM_020987.5(ANK3):c.4723C>T (p.Arg1575Trp)	ANK3 (R1575W)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GUncertain significance
Select item 547929	NM_020987.5(ANK3):c.2722G>A (p.Gly908Arg)	ANK3 (G902R +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 445696	NM_020987.5(ANK3):c.5422A>G (p.Ile1808Val)	ANK3 (I1808V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +3 more	GUncertain significance
Select item 434188	NM_020987.5(ANK3):c.6916A>G (p.Lys2306Glu)	ANK3 (K2306E)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 434169	NM_020987.5(ANK3):c.4907G>A (p.Arg1636Lys)	ANK3 (R1636K)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +2 more	GConflicting classifications of pathogenicity
Select item 434168	NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met)	ANK3 (T1861M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 434167	NM_020987.5(ANK3):c.6067G>A (p.Ala2023Thr)	ANK3 (A2023T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 434160	NM_020987.5(ANK3):c.8592G>T (p.Lys2864Asn)	ANK3 (K2864N)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 434156	NM_020987.5(ANK3):c.9997A>T (p.Thr3333Ser)	ANK3 (T3333S)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 434154	NM_020987.5(ANK3):c.10688A>G (p.Glu3563Gly)	ANK3 (E3563G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 434147	NM_020987.5(ANK3):c.13106G>A (p.Arg4369Gln)	ANK3 (R1853Q +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 423280	NM_020987.5(ANK3):c.148C>T (p.Arg50Ter)	ANK3 (R44* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GConflicting classifications of pathogenicity
Select item 391819	NM_020987.5(ANK3):c.3376A>G (p.Ile1126Val)	ANK3 (I1120V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 389255	NM_020987.5(ANK3):c.1882G>A (p.Ala628Thr)	ANK3 (A622T +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GUncertain significance
Select item 377485	NM_020987.5(ANK3):c.9935C>T (p.Ala3312Val)	ANK3 (A3312V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 377484	NM_020987.5(ANK3):c.6695G>A (p.Arg2232Gln)	ANK3 (R2232Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity

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