ClinVar for Gene (Select 9169) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3437747	NM_004719.3(SCAF11):c.2042T>C (p.Leu681Ser)	SCAF11 (L681S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437746	NM_004719.3(SCAF11):c.1619A>G (p.Asp540Gly)	SCAF11 (D540G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437745	NM_004719.3(SCAF11):c.3712C>T (p.Pro1238Ser)	SCAF11 (P1238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437744	NM_004719.3(SCAF11):c.103T>C (p.Tyr35His)	SCAF11 (Y35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437743	NM_004719.3(SCAF11):c.1675A>G (p.Lys559Glu)	SCAF11 (K559E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3437742	NM_004719.3(SCAF11):c.1690G>A (p.Val564Ile)	SCAF11 (V564I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437741	NM_004719.3(SCAF11):c.115G>A (p.Asp39Asn)	SCAF11 (D39N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437740	NM_004719.3(SCAF11):c.1679T>G (p.Val560Gly)	SCAF11 (V560G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437739	NM_004719.3(SCAF11):c.389G>C (p.Ser130Thr)	SCAF11 (S130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437738	NM_004719.3(SCAF11):c.4064T>C (p.Leu1355Ser)	SCAF11 (L1355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437735	NM_004719.3(SCAF11):c.1121G>A (p.Arg374Gln)	SCAF11 (R374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437734	NM_004719.3(SCAF11):c.1468G>A (p.Gly490Arg)	SCAF11 (G490R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437733	NM_004719.3(SCAF11):c.599C>T (p.Ser200Phe)	SCAF11 (S200F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437732	NM_004719.3(SCAF11):c.2164G>C (p.Asp722His)	SCAF11 (D722H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437731	NM_004719.3(SCAF11):c.2438G>A (p.Arg813Gln)	SCAF11 (R813Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437730	NM_004719.3(SCAF11):c.977A>G (p.Asn326Ser)	SCAF11 (N326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437729	NM_004719.3(SCAF11):c.1183G>C (p.Ala395Pro)	SCAF11 (A395P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3437727	NM_004719.3(SCAF11):c.958A>G (p.Thr320Ala)	SCAF11 (T320A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437726	NM_004719.3(SCAF11):c.3934A>G (p.Asn1312Asp)	SCAF11 (N1312D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437725	NM_004719.3(SCAF11):c.2812C>T (p.His938Tyr)	SCAF11 (H938Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437724	NM_004719.3(SCAF11):c.3862C>A (p.Gln1288Lys)	SCAF11 (Q1288K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437723	NM_004719.3(SCAF11):c.1862C>G (p.Thr621Arg)	SCAF11 (T621R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3390356	GRCh38/hg38 12q12-13.11(chr12:45299856-46290196)x1	ANO6, ARID2 +26 more	Copy number loss	Coffin-Siris syndrome 6	GPathogenic
Select item 3316330	NM_004719.3(SCAF11):c.383C>G (p.Ser128Cys)	SCAF11 (S128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316329	NM_004719.3(SCAF11):c.662G>A (p.Ser221Asn)	SCAF11 (S221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316327	NM_004719.3(SCAF11):c.2890C>T (p.Pro964Ser)	SCAF11 (P964S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316326	NM_004719.3(SCAF11):c.1459G>C (p.Gly487Arg)	SCAF11 (G487R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316325	NM_004719.3(SCAF11):c.253T>C (p.Phe85Leu)	SCAF11 (F85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316324	NM_004719.3(SCAF11):c.2962G>C (p.Asp988His)	SCAF11 (D988H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316323	NM_004719.3(SCAF11):c.2741G>A (p.Arg914Gln)	SCAF11 (R914Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158161	NM_004719.3(SCAF11):c.946A>G (p.Met316Val)	SCAF11 (M316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158160	NM_004719.3(SCAF11):c.89C>G (p.Ser30Cys)	SCAF11 (S30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158159	NM_004719.3(SCAF11):c.77A>G (p.Asp26Gly)	SCAF11 (D26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158158	NM_004719.3(SCAF11):c.4378A>G (p.Lys1460Glu)	SCAF11 (K1460E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158157	NM_004719.3(SCAF11):c.4270G>A (p.Val1424Ile)	SCAF11 (V1424I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158156	NM_004719.3(SCAF11):c.3986C>T (p.Thr1329Met)	SCAF11 (T1329M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158155	NM_004719.3(SCAF11):c.3947C>T (p.Thr1316Ile)	SCAF11 (T1316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158153	NM_004719.3(SCAF11):c.3720G>C (p.Met1240Ile)	SCAF11 (M1240I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158152	NM_004719.3(SCAF11):c.3710C>G (p.Ala1237Gly)	SCAF11 (A1237G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158150	NM_004719.3(SCAF11):c.326C>T (p.Thr109Ile)	SCAF11 (T109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158149	NM_004719.3(SCAF11):c.3201G>T (p.Trp1067Cys)	SCAF11 (W1067C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158148	NM_004719.3(SCAF11):c.3141G>T (p.Trp1047Cys)	SCAF11 (W1047C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158147	NM_004719.3(SCAF11):c.3140G>T (p.Trp1047Leu)	SCAF11 (W1047L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158146	NM_004719.3(SCAF11):c.3074C>T (p.Thr1025Ile)	SCAF11 (T1025I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158145	NM_004719.3(SCAF11):c.2759G>C (p.Gly920Ala)	SCAF11 (G920A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158144	NM_004719.3(SCAF11):c.2663C>T (p.Ser888Phe)	SCAF11 (S888F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158143	NM_004719.3(SCAF11):c.2433G>C (p.Lys811Asn)	SCAF11 (K811N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158142	NM_004719.3(SCAF11):c.2428G>C (p.Glu810Gln)	SCAF11 (E810Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158141	NM_004719.3(SCAF11):c.2426A>G (p.Gln809Arg)	SCAF11 (Q809R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158140	NM_004719.3(SCAF11):c.2273C>T (p.Pro758Leu)	SCAF11 (P758L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158139	NM_004719.3(SCAF11):c.2231T>A (p.Met744Lys)	SCAF11 (M744K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158138	NM_004719.3(SCAF11):c.2138A>G (p.Asn713Ser)	SCAF11 (N713S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158137	NM_004719.3(SCAF11):c.1955T>C (p.Phe652Ser)	SCAF11 (F652S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158136	NM_004719.3(SCAF11):c.1450G>A (p.Val484Met)	SCAF11 (V484M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158135	NM_004719.3(SCAF11):c.1280T>C (p.Val427Ala)	SCAF11 (V427A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158134	NM_004719.3(SCAF11):c.1142G>C (p.Arg381Thr)	SCAF11 (R381T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158133	NM_004719.3(SCAF11):c.1018A>G (p.Ile340Val)	SCAF11 (I340V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 2623998	NM_004719.3(SCAF11):c.1301C>T (p.Thr434Ile)	SCAF11 (T434I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612250	NM_004719.3(SCAF11):c.2641C>G (p.Leu881Val)	SCAF11 (L881V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611373	NM_004719.3(SCAF11):c.3923C>T (p.Ser1308Phe)	SCAF11 (S1308F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609953	NM_004719.3(SCAF11):c.2122C>A (p.His708Asn)	SCAF11 (H708N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605489	NM_004719.3(SCAF11):c.3322A>G (p.Asn1108Asp)	SCAF11 (N1108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600351	NM_004719.3(SCAF11):c.3620T>C (p.Met1207Thr)	SCAF11 (M1207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595485	NM_004719.3(SCAF11):c.1205C>G (p.Ser402Cys)	SCAF11 (S402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542971	NM_004719.3(SCAF11):c.2407C>T (p.Pro803Ser)	SCAF11 (P803S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540925	NM_004719.3(SCAF11):c.3266A>G (p.Tyr1089Cys)	SCAF11 (Y1089C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533235	NM_004719.3(SCAF11):c.4087G>T (p.Ala1363Ser)	SCAF11 (A1363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525853	NM_004719.3(SCAF11):c.3563C>G (p.Ser1188Cys)	SCAF11 (S1188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523944	NM_004719.3(SCAF11):c.904T>C (p.Ser302Pro)	SCAF11 (S302P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523183	NM_004719.3(SCAF11):c.3282A>C (p.Glu1094Asp)	SCAF11 (E1094D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508164	NM_004719.3(SCAF11):c.3317A>G (p.Asn1106Ser)	SCAF11 (N1106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483695	NM_004719.3(SCAF11):c.3730C>T (p.Arg1244Cys)	SCAF11 (R1244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480169	NM_004719.3(SCAF11):c.482A>C (p.Glu161Ala)	SCAF11 (E161A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467016	NM_004719.3(SCAF11):c.3132G>C (p.Glu1044Asp)	SCAF11 (E1044D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461190	NM_004719.3(SCAF11):c.106A>G (p.Ser36Gly)	SCAF11 (S36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459239	NM_004719.3(SCAF11):c.1352A>G (p.Asn451Ser)	SCAF11 (N451S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459215	NM_004719.3(SCAF11):c.1694C>T (p.Ser565Phe)	SCAF11 (S565F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407220	NM_004719.3(SCAF11):c.1486G>A (p.Glu496Lys)	SCAF11 (E496K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389204	NM_004719.3(SCAF11):c.2527C>T (p.Arg843Trp)	SCAF11 (R843W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381117	NM_004719.3(SCAF11):c.305T>C (p.Val102Ala)	SCAF11 (V102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373151	NM_004719.3(SCAF11):c.745A>C (p.Ile249Leu)	SCAF11 (I249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366505	NM_004719.3(SCAF11):c.1642A>G (p.Asn548Asp)	SCAF11 (N548D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355658	NM_004719.3(SCAF11):c.890A>C (p.Glu297Ala)	SCAF11 (E297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349871	NM_004719.3(SCAF11):c.1937T>C (p.Ile646Thr)	SCAF11 (I646T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347889	NM_004719.3(SCAF11):c.245G>A (p.Arg82His)	SCAF11 (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344110	NM_004719.3(SCAF11):c.1559G>A (p.Gly520Asp)	SCAF11 (G520D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339905	NM_004719.3(SCAF11):c.685C>T (p.His229Tyr)	SCAF11 (H229Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327714	NM_004719.3(SCAF11):c.3621G>T (p.Met1207Ile)	SCAF11 (M1207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325665	NM_004719.3(SCAF11):c.3175T>C (p.Trp1059Arg)	SCAF11 (W1059R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318328	NM_004719.3(SCAF11):c.2359C>T (p.Pro787Ser)	SCAF11 (P787S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306517	NM_004719.3(SCAF11):c.3830C>A (p.Pro1277Gln)	SCAF11 (P1277Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286156	NM_004719.3(SCAF11):c.558C>G (p.Phe186Leu)	SCAF11 (F186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281746	NM_004719.3(SCAF11):c.83C>G (p.Thr28Ser)	SCAF11 (T28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278882	NM_004719.3(SCAF11):c.2450C>T (p.Pro817Leu)	SCAF11 (P817L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278690	NM_004719.3(SCAF11):c.3752C>T (p.Pro1251Leu)	SCAF11 (P1251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277631	NM_004719.3(SCAF11):c.281T>C (p.Leu94Ser)	SCAF11 (L94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265234	NM_004719.3(SCAF11):c.124C>T (p.Pro42Ser)	SCAF11 (P42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258154	NM_004719.3(SCAF11):c.1945T>C (p.Cys649Arg)	SCAF11 (C649R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257782	NM_004719.3(SCAF11):c.3666A>T (p.Gln1222His)	SCAF11 (Q1222H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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