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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 207859	NM_003039.3(SLC2A5):c.808C>T (p.Arg270Trp)	SLC2A5 (R270W +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	Gassociation
Select item 194071	NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln)	MTHFR (R594Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign; other
Select item 3521	NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	MTHFR (E470A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign; other
Select item 8178	NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)	CTRC (R254W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity; association
Select item 972888	NM_007365.3(PADI2):c.*258A>T	PADI2	Single nucleotide variant (3 prime UTR variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 972889	NM_007365.3(PADI2):c.1159-39G>A	PADI2	Single nucleotide variant (intron variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 972890	NM_007365.3(PADI2):c.729T>G (p.Gly243=)	PADI2	Single nucleotide variant (synonymous variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 972891	NM_007365.3(PADI2):c.92+1006C>A	PADI2	Single nucleotide variant (intron variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 590889	NC_000001.11:g.17157671G>T	PADI4	Single nucleotide variant	Rheumatoid arthritis	Gassociation
Select item 972892	NM_012387.3(PADI4):c.163G>A (p.Gly55Ser)	PADI4 (G55S)	Single nucleotide variant (missense variant)	PADI4-related disorder +2 more	GBenign; association
Select item 972893	NM_012387.3(PADI4):c.245T>C (p.Val82Ala)	PADI4 (V82A)	Single nucleotide variant (missense variant)	PADI4-related disorder +2 more	GBenign; association
Select item 972895	NM_012387.3(PADI4):c.335G>C (p.Gly112Ala)	PADI4 (G112A)	Single nucleotide variant (missense variant)	PADI4-related disorder +2 more	GBenign; association
Select item 590790	NM_012387.3(PADI4):c.341-15T>C	PADI4	Single nucleotide variant (intron variant)	Rheumatoid arthritis	Gassociation
Select item 972894	NM_012387.3(PADI4):c.349T>C (p.Leu117=)	PADI4	Single nucleotide variant (synonymous variant)	PADI4-related disorder +2 more	GBenign; association
Select item 3681	NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)	GALE (G319E)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency +1 more	GConflicting classifications of pathogenicity; other
Select item 3679	NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)	GALE (K257R)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency +2 more	GConflicting classifications of pathogenicity; other
Select item 523633	NM_006015.6(ARID1A):c.1653C>G (p.Tyr551Ter)	ARID1A (Y551*)	Single nucleotide variant (nonsense)	Colorectal cancer	Gassociation
Select item 438751	NM_006015.6(ARID1A):c.2732G>T (p.Arg911Met)	ARID1A (R911M)	Single nucleotide variant (missense variant)	Medulloblastoma	Gother
Select item 438750	NM_006015.6(ARID1A):c.6259G>A (p.Gly2087Arg)	ARID1A (G2087R +1 more)	Single nucleotide variant (missense variant)	Hepatoblastoma	Gother
Select item 2579654	NM_006015.6(ARID1A):c.6436_6438del (p.Lys2146del)	ARID1A (K1929del +1 more)	Deletion (inframe_deletion)	Endometrial carcinoma	Gassociation
Select item 12755	NM_014654.4(SDC3):c.986C>T (p.Thr329Ile)	SDC3 (T329I)	Single nucleotide variant (missense variant)	Obesity, association with	Gassociation
Select item 12756	NM_014654.4(SDC3):c.622G>A (p.Val208Ile)	SDC3 (V208I)	Single nucleotide variant (missense variant)	Obesity, association with	Gassociation
Select item 1693613	NM_001099772.2(CYP4B1):c.*437T>C	CYP4B1	Single nucleotide variant (3 prime UTR variant +1 more)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1693612	NM_178134.3(CYP4Z1):c.1068-409G>A	CYP4A22-AS1, CYP4Z1	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1693611	NM_001010969.4(CYP4A22):c.691T>C (p.Cys231Arg)	CYP4A22, CYP4A22-AS1 (C231R)	Single nucleotide variant (missense variant +1 more)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 8960	NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu)	CPT2 (F448L)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GConflicting classifications of pathogenicity; other
Select item 1344496	NC_000001.11:g.55030366T>C	PCSK9	Single nucleotide variant	Familial hypercholesterolemia	Gassociation
Select item 777101	NM_000066.4(C8B):c.1144G>T (p.Asp382Tyr)	C8B (D320Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign; association
Select item 1693587	NM_000775.4(CYP2J2):c.148C>T (p.Leu50=)	CYP2J2	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 869112	NM_000969.5(RPL5):c.[189+267G>C;189+288A>G;189+309A>G;189+364G>A;189+387A>T]	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6	Gassociation
Select item 99330	NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	ABCA4, LOC126805793 (R1640W +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +6 more	GPathogenic/Likely pathogenic; other
Select item 99260	NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)	ABCA4 (W1408R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic; other
Select item 7081	NC_000001.11:g.109274968G>T	CELSR2, LOC110121285 +1 more	Single nucleotide variant (3 prime UTR variant)	Low density lipoprotein cholesterol level quantitative trait locus 6	Gassociation
Select item 438785	NM_022768.5(RBM15):c.1912C>A (p.Gln638Lys)	LOC112577475, RBM15 (Q638K)	Single nucleotide variant (missense variant)	Neuroblastoma	Gother
Select item 50897	NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu)	AMPD1 (P81L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity; other
Select item 18271	NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)	AMPD1 (Q45*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity; other
Select item 30464	NM_005105.5(RBM8A):c.-21G>A	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity; other
Select item 560551	NM_015100.4(POGZ):c.4207G>A (p.Ala1403Thr)	POGZ (A1403T +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560552	NM_015100.4(POGZ):c.4132A>C (p.Thr1378Pro)	POGZ (T1378P +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560553	NM_015100.4(POGZ):c.4042G>C (p.Glu1348Gln)	POGZ (E1348Q +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560555	NM_015100.4(POGZ):c.3806A>G (p.Lys1269Arg)	POGZ (K1269R +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560556	NM_015100.4(POGZ):c.3802A>G (p.Ile1268Val)	POGZ (I1268V +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560557	NM_015100.4(POGZ):c.3772A>T (p.Ser1258Cys)	POGZ (S1258C +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560558	NM_015100.4(POGZ):c.3659A>G (p.Gln1220Arg)	POGZ (Q1220R +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560560	NM_015100.4(POGZ):c.3559C>T (p.Pro1187Ser)	POGZ (P1187S +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560561	NM_015100.4(POGZ):c.3388T>G (p.Leu1130Val)	POGZ (L1130V +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560563	NM_015100.4(POGZ):c.3343C>G (p.Gln1115Glu)	POGZ (Q1115E +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560564	NM_015100.4(POGZ):c.3116G>A (p.Arg1039His)	POGZ (R1039H +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560565	NM_015100.4(POGZ):c.2792C>T (p.Pro931Leu)	POGZ (P931L +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560566	NM_015100.4(POGZ):c.2705C>T (p.Thr902Ile)	POGZ (T902I +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560567	NM_015100.4(POGZ):c.2608G>A (p.Val870Met)	POGZ (V870M +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560568	NM_015100.4(POGZ):c.2591G>A (p.Arg864Gln)	POGZ (R864Q +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560569	NM_015100.4(POGZ):c.2557A>G (p.Ile853Val)	POGZ (I853V +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560570	NM_015100.4(POGZ):c.2542C>T (p.Arg848Trp)	POGZ (R848W +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560571	NM_015100.4(POGZ):c.2396G>A (p.Ser799Asn)	POGZ (S799N +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560572	NM_015100.4(POGZ):c.1978A>G (p.Lys660Glu)	POGZ (K660E +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560573	NM_015100.4(POGZ):c.1948A>C (p.Asn650His)	POGZ (N650H +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560574	NM_015100.4(POGZ):c.1940A>C (p.Tyr647Ser)	POGZ (Y647S +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560575	NM_015100.4(POGZ):c.1549G>A (p.Val517Ile)	POGZ (V517I +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560576	NM_015100.4(POGZ):c.1445C>G (p.Ala482Gly)	POGZ (A482G +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560579	NM_015100.4(POGZ):c.1318C>G (p.Pro440Ala)	POGZ (P440A +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560581	NM_015100.4(POGZ):c.970C>G (p.Leu324Val)	POGZ (L324V +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560582	NM_015100.4(POGZ):c.942C>G (p.Ser314Arg)	POGZ (S314R +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560583	NM_015100.4(POGZ):c.902T>C (p.Phe301Ser)	POGZ (F301S +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560584	NM_015100.4(POGZ):c.860C>T (p.Ala287Val)	POGZ (A287V +2 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560585	NM_015100.4(POGZ):c.830A>G (p.Gln277Arg)	POGZ (Q277R +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560586	NM_015100.4(POGZ):c.794C>G (p.Thr265Ser)	POGZ (T265S +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560588	NM_015100.4(POGZ):c.749A>G (p.Lys250Arg)	POGZ (K250R +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560589	NM_015100.4(POGZ):c.625A>T (p.Met209Leu)	POGZ (M209L +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 560590	NM_015100.4(POGZ):c.499A>G (p.Met167Val)	POGZ (M167V +1 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560591	NM_015100.4(POGZ):c.319C>G (p.Leu107Val)	POGZ (L107V +1 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560592	NM_015100.4(POGZ):c.303G>T (p.Gln101His)	POGZ (Q101H +1 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560593	NM_015100.4(POGZ):c.272C>A (p.Ala91Asp)	POGZ (A91D)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 560594	NM_015100.4(POGZ):c.211G>A (p.Val71Ile)	POGZ (V71I)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 1342841	NM_001111.5(ADAR):c.3020-759A>G	ADAR	Single nucleotide variant (intron variant)	Colorectal cancer	Gprotective
Select item 242810	NM_000157.4(GBA1):c.882T>G (p.His294Gln)	GBA1, LOC106627981 (H294Q +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity; other
Select item 126864	NM_199173.4(BGLAP):c.*304G>A	BGLAP, PAQR6	Single nucleotide variant (3 prime UTR variant +1 more)	Calcium oxalate urolithiasis	Gassociation
Select item 438783	NM_005973.5(PRCC):c.908C>T (p.Pro303Leu)	PRCC (P303L)	Single nucleotide variant (missense variant)	YOLK SAC TUMOR AND HIGH-GRADE IMMATURE TERATOMA	Gother
Select item 18395	NM_002036.3(ACKR1):c.-67T>C	ACKR1	Single nucleotide variant (5 prime UTR variant)	Resistance to Plasmodium vivax infection +2 more	GPathogenic; association; protective
Select item 1705278	NM_002348.4(LY9):c.182del (p.Gly61fs)	LY9 (G61fs)	Deletion (frameshift variant)	not provided	Gassociation
Select item 5467	NM_001394477.1(FCGR2B):c.695T>C (p.Ile232Thr)	FCGR2B (I232T +3 more)	Single nucleotide variant (missense variant +1 more)	Systemic lupus erythematosus, susceptibility to +1 more	Gprotective; risk factor
Select item 1693609	NM_004528.4(MGST3):c.-8+936G>A	MGST3	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1693610	NM_004528.4(MGST3):c.-7-2921C>T	MGST3	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1693608	NM_004528.4(MGST3):c.-6C>T	MGST3	Single nucleotide variant (5 prime UTR variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1693602	NM_004528.4(MGST3):c.192-423G>A	LOC126805899, MGST3	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1693588	NM_004528.4(MGST3):c.*58G>T	MGST3	Single nucleotide variant (3 prime UTR variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1693589	NM_004528.4(MGST3):c.*282G>T	MGST3	Single nucleotide variant (3 prime UTR variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gprotective
Select item 2571393	NM_000963.4(PTGS2):c.*427T>C	PTGS2	Single nucleotide variant (3 prime UTR variant)	Cholangiocarcinoma	Gother
Select item 2571394	NC_000001.11:g.186681189C>G	PACERR, PTGS2	Single nucleotide variant (non-coding transcript variant)	Cholangiocarcinoma	Gother
Select item 17066	NM_000651.6(CR1):c.4973A>G (p.His1658Arg)	CR1 (H1658R)	Single nucleotide variant (missense variant)	CR1-related disorder +1 more	GBenign; protective
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 6658	NM_003268.6(TLR5):c.1174C>T (p.Arg392Ter)	TLR5 (R392*)	Single nucleotide variant (nonsense)	Melioidosis, resistance to +2 more	Gprotective; risk factor
Select item 438766	NM_002107.7(H3-3A):c.103G>A (p.Gly35Arg)	H3-3A (G35R)	Single nucleotide variant (missense variant)	Glioblastoma	Gother
Select item 1691121	NM_002149.4(HPCAL1):c.-110-6636G>T	HPCAL1	Single nucleotide variant (intron variant)	Vascular endothelial growth factor (VEGF) inhibitor response	Gassociation
Select item 996635	NM_002252.5(KCNS3):c.601G>A (p.Ala201Thr)	KCNS3 (A201T)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 5671	NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)	SPAST (S44L)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign; other; risk factor
Select item 996645	NM_016252.4(BIRC6):c.3931A>G (p.Ile1311Val)	BIRC6 (I1297V +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 236028	NM_170672.3(RASGRP3):c.-261+9727G>T	RASGRP3	Single nucleotide variant (intron variant)	Lip and oral cavity carcinoma	Gassociation
Select item 68467	NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)	CYP1B1 (E229K)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +4 more	GBenign/Likely benign; other

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