ClinVar for MedGen (Select 87542) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3598947	NM_000051.4(ATM):c.7584_7585delinsT (p.Thr2529fs)	ATM, C11orf65 (T2529fs)	Indel (non-coding transcript variant +2 more)	Ataxia-telangiectasia syndrome +1 more	GLikely pathogenic
Select item 3598946	NM_000051.4(ATM):c.7078_7079delinsG (p.Tyr2360fs)	ATM, C11orf65 (Y2360fs)	Indel (frameshift variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GPathogenic
Select item 3598945	NM_000051.4(ATM):c.7057C>T (p.Pro2353Ser)	C11orf65, ATM (P2353S)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 3598944	NM_000051.4(ATM):c.7045T>A (p.Cys2349Ser)	ATM, C11orf65 (C2349S)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 3598943	NM_000051.4(ATM):c.6096-1G>A	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GLikely pathogenic
Select item 3598942	NM_000051.4(ATM):c.5880_5881del (p.Tyr1961fs)	ATM, C11orf65 (Y1961fs)	Deletion (frameshift variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GLikely pathogenic
Select item 3598941	NM_000051.4(ATM):c.4983_4985delinsTCTTTAT (p.Thr1662fs)	ATM (T1662fs)	Indel (frameshift variant)	Ataxia-telangiectasia syndrome +1 more	GLikely pathogenic
Select item 3598939	NM_000051.4(ATM):c.4910-13A>G	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 3598938	NM_000051.4(ATM):c.4608dup (p.Gln1537fs)	ATM (Q1537fs)	Duplication (frameshift variant)	Ataxia-telangiectasia syndrome +1 more	GLikely pathogenic
Select item 3598934	NM_000051.4(ATM):c.2857G>T (p.Glu953Ter)	ATM (E953*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +1 more	GLikely pathogenic
Select item 3598932	NM_000051.4(ATM):c.2441A>G (p.Asp814Gly)	ATM (D814G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 3598930	NM_000051.4(ATM):c.1473_1474dup (p.Phe492fs)	ATM (F492fs)	Duplication (frameshift variant)	Ataxia-telangiectasia syndrome +1 more	GPathogenic
Select item 3598929	NM_000051.4(ATM):c.1446A>T (p.Lys482Asn)	ATM (K482N)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 3598927	NM_000051.4(ATM):c.986_990del (p.Arg329fs)	ATM (R329fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +1 more	GLikely pathogenic
Select item 3598926	NM_000051.4(ATM):c.951dup (p.Leu318fs)	ATM (L318fs)	Duplication (frameshift variant)	Ataxia-telangiectasia syndrome +1 more	GLikely pathogenic
Select item 3598925	NM_000051.4(ATM):c.709del (p.Thr237fs)	ATM (T237fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +1 more	GLikely pathogenic
Select item 3598923	NM_000051.4(ATM):c.500T>C (p.Leu167Ser)	ATM (L167S)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 3598922	NM_000051.4(ATM):c.372_378del (p.Met125fs)	ATM (M125fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +1 more	GLikely pathogenic
Select item 3588948	NM_006218.4(PIK3CA):c.2949G>A (p.Met983Ile)	PIK3CA (M983I)	Single nucleotide variant (missense variant)	Colorectal cancer +14 more	GUncertain significance
Select item 3588947	NM_006218.4(PIK3CA):c.1701A>T (p.Lys567Asn)	PIK3CA (K567N)	Single nucleotide variant (missense variant)	Colorectal cancer +14 more	GUncertain significance
Select item 3588946	NM_006218.4(PIK3CA):c.1442G>A (p.Ser481Asn)	PIK3CA (S481N)	Single nucleotide variant (missense variant)	Colorectal cancer +14 more	GUncertain significance
Select item 3582395	NM_032043.3(BRIP1):c.2051G>A (p.Cys684Tyr)	BRIP1 (C684Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 3582394	NM_032043.3(BRIP1):c.3116del (p.Glu1039fs)	BRIP1 (E1039fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 3581229	NM_004360.5(CDH1):c.2222T>C (p.Leu741Ser)	CDH1 (L225S +3 more)	Single nucleotide variant (missense variant)	Hereditary diffuse gastric adenocarcinoma +4 more	GUncertain significance
Select item 3581228	NM_004360.5(CDH1):c.2116C>G (p.Gln706Glu)	CDH1 (Q190E +3 more)	Single nucleotide variant (missense variant)	Hereditary diffuse gastric adenocarcinoma +4 more	GUncertain significance
Select item 3581226	NM_004360.5(CDH1):c.1430T>C (p.Val477Ala)	CDH1 (V477A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +4 more	GUncertain significance
Select item 3576482	NM_001382430.1(AKT1):c.237G>C (p.Gln79His)	AKT1 (Q79H)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 3575876	NM_000059.4(BRCA2):c.8535A>C (p.Arg2845Ser)	BRCA2 (R2813S +3 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +7 more	GUncertain significance
Select item 3575874	NM_000059.4(BRCA2):c.6841+28T>G	BRCA2	Single nucleotide variant (intron variant)	Wilms tumor 1 +7 more	GUncertain significance
Select item 3575873	NM_000059.4(BRCA2):c.6744dup (p.Ala2249fs)	BRCA2 (A2249fs)	Duplication (frameshift variant +2 more)	Wilms tumor 1 +7 more	GPathogenic
Select item 3575871	NM_000059.4(BRCA2):c.6451G>T (p.Val2151Phe)	BRCA2 (V2151F)	Single nucleotide variant (missense variant +2 more)	Wilms tumor 1 +7 more	GUncertain significance
Select item 3575870	NM_000059.4(BRCA2):c.4871C>T (p.Thr1624Ile)	BRCA2 (T1624I)	Single nucleotide variant (missense variant +2 more)	Wilms tumor 1 +7 more	GUncertain significance
Select item 3575869	NM_000059.4(BRCA2):c.4700T>G (p.Leu1567Arg)	BRCA2 (L1567R)	Single nucleotide variant (missense variant +2 more)	Wilms tumor 1 +7 more	GUncertain significance
Select item 3575864	NM_000059.4(BRCA2):c.1762delinsTTT (p.Asn588fs)	BRCA2 (N588fs)	Indel (frameshift variant +2 more)	Wilms tumor 1 +7 more	GPathogenic
Select item 3575863	NM_000059.4(BRCA2):c.1394_1403del (p.Val465fs)	BRCA2 (V465fs)	Deletion (frameshift variant +2 more)	Wilms tumor 1 +7 more	GLikely pathogenic
Select item 3574545	NM_004985.5(KRAS):c.451-6T>C	KRAS	Single nucleotide variant (intron variant)	Cardiofaciocutaneous syndrome 2 +11 more	GUncertain significance
Select item 3393453	NM_000051.4(ATM):c.9132T>A (p.Asn3044Lys)	C11orf65, ATM (N3044K)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3391407	NM_003579.4(RAD54L):c.437A>G (p.Asp146Gly)	RAD54L (D146G)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3382670	NM_000059.4(BRCA2):c.6288_6289del (p.Thr2097fs)	BRCA2 (T2097fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 3382604	NM_024675.4(PALB2):c.2800_2801dup (p.Val934_Ala935insTer)	PALB2	Microsatellite (frameshift variant)	Pancreatic cancer, susceptibility to, 3 +2 more	GLikely pathogenic
Select item 3382499	NM_000051.4(ATM):c.707_708dup (p.Thr237fs)	ATM (T237fs)	Duplication (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 3382392	NM_032043.3(BRIP1):c.2429_2432dup (p.Pro812fs)	BRIP1 (P812fs)	Duplication (frameshift variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 3382379	NM_000059.4(BRCA2):c.9010_9013del (p.Lys3004fs)	BRCA2 (K1360fs +4 more)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group D1 +7 more	GLikely pathogenic
Select item 3382306	NM_000059.4(BRCA2):c.3722_3723insA (p.Phe1241fs)	BRCA2 (F1241fs)	Insertion (frameshift variant +2 more)	Fanconi anemia complementation group D1 +7 more	GLikely pathogenic
Select item 3382224	NM_000059.4(BRCA2):c.4851dup (p.Asp1618Ter)	BRCA2 (D1618*)	Duplication (nonsense +2 more)	Fanconi anemia complementation group D1 +7 more	GLikely pathogenic
Select item 3382148	NM_000465.4(BARD1):c.1450_1451dup (p.Ala485fs)	BARD1 (A466fs +1 more)	Duplication (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 3382068	NM_000059.4(BRCA2):c.6787delinsTT (p.Val2263fs)	BRCA2 (V2263fs)	Indel (frameshift variant +2 more)	Fanconi anemia complementation group D1 +7 more	GLikely pathogenic
Select item 3381918	NM_000059.4(BRCA2):c.3222dup (p.Ser1075Ter)	BRCA2 (S1075*)	Duplication (nonsense +2 more)	Fanconi anemia complementation group D1 +7 more	GLikely pathogenic
Select item 3379367	NM_000465.4(BARD1):c.450A>G (p.Arg150=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GBenign
Select item 3379366	NM_032043.3(BRIP1):c.1350A>G (p.Glu450=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379365	NM_000465.4(BARD1):c.1678-11del	BARD1	Deletion (intron variant)	Familial cancer of breast	GLikely benign
Select item 3379364	NM_000465.4(BARD1):c.1410T>C (p.Asn470=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GBenign
Select item 3379362	NM_000465.4(BARD1):c.1830T>C (p.Pro610=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GBenign
Select item 3379361	NM_000465.4(BARD1):c.1722C>T (p.Gly574=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GBenign
Select item 3379360	NM_032043.3(BRIP1):c.657T>C (p.Cys219=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379358	NM_032043.3(BRIP1):c.2358T>C (p.Phe786=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379357	NM_032043.3(BRIP1):c.3339A>G (p.Lys1113=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379355	NM_000465.4(BARD1):c.159-17T>C	BARD1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3379353	NM_032043.3(BRIP1):c.3090C>T (p.Ala1030=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379352	NM_032043.3(BRIP1):c.1629-16C>T	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3379351	NM_000465.4(BARD1):c.663G>A (p.Glu221=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GBenign
Select item 3379350	NM_032043.3(BRIP1):c.3243C>A (p.Ala1081=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379345	NM_032043.3(BRIP1):c.2361A>G (p.Pro787=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379344	NM_032043.3(BRIP1):c.2337C>T (p.Val779=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379343	NM_000465.4(BARD1):c.879C>T (p.Ser293=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GBenign
Select item 3379341	NM_000465.4(BARD1):c.1581T>C (p.Gly527=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GBenign
Select item 3379340	NM_032043.3(BRIP1):c.1795-20C>T	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3379338	NM_032043.3(BRIP1):c.3273T>C (p.His1091=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379336	NM_000465.4(BARD1):c.837T>C (p.Ser279=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GBenign
Select item 3379333	NM_032043.3(BRIP1):c.2905+7A>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3379330	NM_032043.3(BRIP1):c.45T>C (p.Ile15=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379329	NM_000465.4(BARD1):c.215+8A>G	BARD1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3379327	NM_032043.3(BRIP1):c.2004A>G (p.Glu668=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379326	NM_032043.3(BRIP1):c.2751_2755delinsCACCC (p.Ser919Pro)	BRIP1 (S919P)	Indel (missense variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 3379325	NM_000465.4(BARD1):c.963A>G (p.Lys321=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GBenign
Select item 3379323	NM_032043.3(BRIP1):c.1452T>C (p.Thr484=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379320	NM_032043.3(BRIP1):c.2098-18T>C	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3379317	NM_032043.3(BRIP1):c.1248G>A (p.Arg416=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379306	NM_032043.3(BRIP1):c.2380-20A>T	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3379305	NM_000465.4(BARD1):c.2214C>T (p.Ile738=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3379300	NM_032043.3(BRIP1):c.3171T>C (p.Asn1057=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379298	NM_032043.3(BRIP1):c.1141-7C>T	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3379297	NM_000465.4(BARD1):c.365-16T>C	BARD1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3379294	NM_000465.4(BARD1):c.1904-18T>C	BARD1	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3379291	NM_032043.3(BRIP1):c.243A>G (p.Glu81=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379289	NM_032043.3(BRIP1):c.3297G>A (p.Leu1099=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3379281	NM_000465.4(BARD1):c.300_307dup (p.Ser103fs)	BARD1 (S103fs +1 more)	Duplication (frameshift variant +2 more)	Familial cancer of breast	GPathogenic
Select item 3379278	NM_032043.3(BRIP1):c.486del (p.Pro163_Leu164insTer)	BRIP1	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 3379276	NM_032043.3(BRIP1):c.2789C>G (p.Ser930Ter)	BRIP1 (S930*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic
Select item 3379275	NM_000051.4(ATM):c.5719_5721delinsGG (p.Arg1907fs)	ATM (R1907fs)	Indel (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 3379274	NM_024675.4(PALB2):c.720_729del (p.Asn241fs)	PALB2 (N221fs +1 more)	Deletion (frameshift variant +2 more)	Familial cancer of breast	GPathogenic
Select item 3379267	NM_000051.4(ATM):c.6376dup (p.Glu2126fs)	ATM, C11orf65 (E2126fs)	Duplication (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 3379265	NM_032043.3(BRIP1):c.1018del (p.Val341fs)	BRIP1 (V341fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 3379260	NM_000051.4(ATM):c.4110-19_4115del	ATM	Deletion (splice acceptor variant)	Familial cancer of breast	GLikely pathogenic
Select item 3379258	NM_000465.4(BARD1):c.2178del (p.Asp727fs)	BARD1 (D214fs +4 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 3379256	NM_032043.3(BRIP1):c.2114_2115dup (p.Glu706fs)	BRIP1 (E706fs)	Duplication (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 3379250	NM_024675.4(PALB2):c.3066_3067delinsAT (p.Met1022_Gln1023delinsIleTer)	PALB2	Indel (nonsense +1 more)	Familial cancer of breast	GPathogenic
Select item 3379243	NM_024675.4(PALB2):c.3108dup (p.Ile1037fs)	PALB2 (I1013fs +7 more)	Duplication (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 3379240	NM_000051.4(ATM):c.3024del (p.Glu1009fs)	ATM (E1009fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 3379239	NM_000051.4(ATM):c.6738dup (p.Ile2247fs)	ATM, C11orf65 (I2247fs)	Duplication (frameshift variant +1 more)	Familial cancer of breast	GPathogenic

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