ClinVar for Gene (Select 23026) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351045	NM_001198950.3(MYO16):c.4200C>A (p.Gly1400=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GLikely benign
Select item 3297717	NM_001198950.3(MYO16):c.3507G>T (p.Leu1169Phe)	MYO16 (L1147F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297715	NM_001198950.3(MYO16):c.4574C>T (p.Ser1525Phe)	MYO16 (S1525F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297714	NM_001198950.3(MYO16):c.4612G>A (p.Val1538Met)	MYO16 (V1516M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297713	NM_001198950.3(MYO16):c.5236G>T (p.Asp1746Tyr)	MYO16, MYO16-AS1 (D1746Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297712	NM_001198950.3(MYO16):c.5471T>C (p.Leu1824Ser)	MYO16 (L1824S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297711	NM_001198950.3(MYO16):c.1259T>C (p.Met420Thr)	MYO16 (M398T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297710	NM_001198950.3(MYO16):c.5441A>G (p.Glu1814Gly)	MYO16 (E1814G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297709	NM_001198950.3(MYO16):c.1964G>T (p.Gly655Val)	MYO16 (G633V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297708	NM_001198950.3(MYO16):c.1224G>A (p.Met408Ile)	MYO16 (M386I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297707	NM_001198950.3(MYO16):c.2894A>G (p.Asn965Ser)	MYO16 (N943S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297706	NM_001198950.3(MYO16):c.119G>A (p.Arg40His)	MYO16 (R40H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297704	NM_001198950.3(MYO16):c.1969C>T (p.Arg657Cys)	MYO16 (R657C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297703	NM_001198950.3(MYO16):c.1523G>A (p.Arg508Gln)	MYO16 (R508Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3297702	NM_001198950.3(MYO16):c.475G>A (p.Asp159Asn)	MYO16 (D159N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297701	NM_001198950.3(MYO16):c.967G>A (p.Glu323Lys)	MYO16 (E301K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297700	NM_001198950.3(MYO16):c.2261T>C (p.Ile754Thr)	MYO16 (I754T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297699	NM_001198950.3(MYO16):c.712A>G (p.Asn238Asp)	MYO16 (N238D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297698	NM_001198950.3(MYO16):c.4772C>A (p.Pro1591Gln)	MYO16 (P1569Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297697	NM_001198950.3(MYO16):c.2969A>G (p.His990Arg)	MYO16 (H968R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3161736	NM_001198950.3(MYO16):c.95C>T (p.Ser32Phe)	MYO16 (S32F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161729	NM_001198950.3(MYO16):c.815T>C (p.Ile272Thr)	MYO16 (I250T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161710	NM_001198950.3(MYO16):c.59C>A (p.Ser20Tyr)	MYO16 (S20Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161704	NM_001198950.3(MYO16):c.5615C>T (p.Pro1872Leu)	MYO16 (P1850L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161700	NM_001198950.3(MYO16):c.5605A>G (p.Asn1869Asp)	MYO16 (N1847D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161690	NM_001198950.3(MYO16):c.538A>G (p.Asn180Asp)	MYO16 (N180D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161659	NM_001198950.3(MYO16):c.5013G>C (p.Lys1671Asn)	MYO16 (K1649N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161637	NM_001198950.3(MYO16):c.4778C>G (p.Ser1593Cys)	MYO16 (S1571C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161622	NM_001198950.3(MYO16):c.4568C>T (p.Thr1523Ile)	MYO16 (T1523I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161610	NM_001198950.3(MYO16):c.4492T>C (p.Cys1498Arg)	MYO16 (C1476R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161605	NM_001198950.3(MYO16):c.4489G>C (p.Ala1497Pro)	MYO16 (A1497P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161600	NM_001198950.3(MYO16):c.4457C>G (p.Pro1486Arg)	MYO16 (P1464R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161590	NM_001198950.3(MYO16):c.433G>A (p.Asp145Asn)	MYO16 (D145N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161586	NM_001198950.3(MYO16):c.4279G>A (p.Glu1427Lys)	MYO16 (E1405K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161577	NM_001198950.3(MYO16):c.4195G>T (p.Ala1399Ser)	MYO16 (A1399S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161560	NM_001198950.3(MYO16):c.4015G>C (p.Ala1339Pro)	MYO16 (A1317P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161556	NM_001198950.3(MYO16):c.4001A>G (p.Tyr1334Cys)	MYO16 (Y1334C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161524	NM_001198950.3(MYO16):c.3518T>C (p.Ile1173Thr)	MYO16 (I1151T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161509	NM_001198950.3(MYO16):c.3299A>G (p.Tyr1100Cys)	MYO16 (Y1078C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161507	NM_001198950.3(MYO16):c.3229A>C (p.Asn1077His)	MYO16 (N1055H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161503	NM_001198950.3(MYO16):c.3043A>C (p.Ser1015Arg)	MYO16 (S1015R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161497	NM_001198950.3(MYO16):c.2965G>A (p.Gly989Arg)	MYO16 (G989R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161492	NM_001198950.3(MYO16):c.2953T>C (p.Phe985Leu)	MYO16 (F985L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161490	NM_001198950.3(MYO16):c.2737G>A (p.Gly913Arg)	MYO16 (G913R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161487	NM_001198950.3(MYO16):c.2710G>T (p.Val904Leu)	MYO16 (V882L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161465	NM_001198950.3(MYO16):c.227C>T (p.Pro76Leu)	MYO16 (P54L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161459	NM_001198950.3(MYO16):c.2262T>G (p.Ile754Met)	MYO16 (I732M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161456	NM_001198950.3(MYO16):c.2255T>C (p.Ile752Thr)	MYO16 (I730T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161447	NM_001198950.3(MYO16):c.2079C>G (p.His693Gln)	MYO16 (H693Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161432	NM_001198950.3(MYO16):c.1532G>T (p.Arg511Leu)	MYO16 (R489L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161422	NM_001198950.3(MYO16):c.1451C>T (p.Ser484Leu)	MYO16 (S462L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161401	NM_001198950.3(MYO16):c.1304A>G (p.Asn435Ser)	MYO16 (N435S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161390	NM_001198950.3(MYO16):c.1246C>G (p.Gln416Glu)	MYO16 (Q394E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161387	NM_001198950.3(MYO16):c.1234A>G (p.Thr412Ala)	MYO16 (T412A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161385	NM_001198950.3(MYO16):c.1205T>C (p.Ile402Thr)	MYO16 (I380T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161379	NM_001198950.3(MYO16):c.1028C>G (p.Ala343Gly)	MYO16 (A343G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148881	GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1	ABHD13, ARGLU1 +34 more	Copy number loss	not provided	GPathogenic
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3060806	NM_001198950.3(MYO16):c.916G>A (p.Val306Met)	MYO16 (V284M +1 more)	Single nucleotide variant (missense variant)	MYO16-related disorder	GBenign
Select item 3060429	NM_001198950.3(MYO16):c.4051+8C>T	MYO16	Single nucleotide variant (intron variant)	MYO16-related disorder	GBenign
Select item 3060354	NM_001198950.3(MYO16):c.3219T>C (p.Asp1073=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GBenign
Select item 3060129	NM_001198950.3(MYO16):c.1220T>C (p.Met407Thr)	MYO16 (M385T +1 more)	Single nucleotide variant (missense variant)	MYO16-related disorder	GBenign
Select item 3060009	NM_001198950.3(MYO16):c.742-7G>A	MYO16	Single nucleotide variant (intron variant)	MYO16-related disorder	GBenign
Select item 3059364	NM_001198950.3(MYO16):c.3579A>G (p.Ile1193Met)	MYO16 (I1171M +1 more)	Single nucleotide variant (missense variant)	MYO16-related disorder	GBenign
Select item 3059321	NM_001198950.3(MYO16):c.1413T>C (p.Ile471=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GBenign
Select item 3059259	NM_001198950.3(MYO16):c.609T>A (p.Asp203Glu)	MYO16 (D181E +1 more)	Single nucleotide variant (missense variant)	MYO16-related disorder	GBenign
Select item 3059150	NM_001198950.3(MYO16):c.4410C>T (p.Gly1470=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GBenign
Select item 3059068	NM_001198950.3(MYO16):c.2557C>G (p.Pro853Ala)	MYO16 (P831A +1 more)	Single nucleotide variant (missense variant)	MYO16-related disorder	GBenign
Select item 3058516	NM_001198950.3(MYO16):c.1776A>G (p.Gly592=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GLikely benign
Select item 3056827	NM_001198950.3(MYO16):c.4449C>T (p.His1483=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GBenign
Select item 3056453	NM_001198950.3(MYO16):c.4686G>C (p.Pro1562=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GBenign
Select item 3056192	NM_001198950.3(MYO16):c.1864A>C (p.Met622Leu)	MYO16 (M600L +1 more)	Single nucleotide variant (missense variant)	MYO16-related disorder	GBenign
Select item 3055500	NM_001198950.3(MYO16):c.4864G>T (p.Ala1622Ser)	MYO16 (A1600S +1 more)	Single nucleotide variant (missense variant)	MYO16-related disorder	GBenign
Select item 3053905	NM_001198950.3(MYO16):c.4812G>T (p.Pro1604=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GLikely benign
Select item 3051523	NM_001198950.3(MYO16):c.1659+3A>G	MYO16	Single nucleotide variant (intron variant)	MYO16-related disorder	GLikely benign
Select item 3046174	NM_001198950.3(MYO16):c.293-8G>T	MYO16	Single nucleotide variant (intron variant)	MYO16-related disorder	GLikely benign
Select item 3045676	NM_001198950.3(MYO16):c.111A>G (p.Gln37=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GBenign
Select item 3043901	NM_001198950.3(MYO16):c.5033C>A (p.Pro1678His)	MYO16 (P1656H +1 more)	Single nucleotide variant (missense variant)	MYO16-related disorder	GBenign
Select item 3043647	NM_001198950.3(MYO16):c.5530G>A (p.Ala1844Thr)	MYO16 (A1822T +1 more)	Single nucleotide variant (missense variant)	MYO16-related disorder	GLikely benign
Select item 3041177	NM_001198950.3(MYO16):c.4818C>T (p.Pro1606=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GBenign
Select item 3039670	NM_001198950.3(MYO16):c.4818C>G (p.Pro1606=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GLikely benign
Select item 3038507	NM_001198950.3(MYO16):c.1080C>T (p.Pro360=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GLikely benign
Select item 3037724	NM_001198950.3(MYO16):c.4265C>T (p.Ala1422Val)	MYO16 (A1400V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3037560	NM_001198950.3(MYO16):c.4617G>A (p.Lys1539=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GBenign
Select item 3037260	NM_001198950.3(MYO16):c.2985C>T (p.Leu995=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GBenign
Select item 3034017	NM_001198950.3(MYO16):c.1638A>G (p.Thr546=)	MYO16	Single nucleotide variant (synonymous variant)	MYO16-related disorder	GLikely benign
Select item 3030683	NM_001198950.3(MYO16):c.1925+2T>C	MYO16	Single nucleotide variant (splice donor variant)	MYO16-related disorder	GUncertain significance
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2681423	NM_001198950.3(MYO16):c.4349G>T (p.Gly1450Val)	MYO16 (G1428V +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2643932	NM_001198950.3(MYO16):c.4769C>G (p.Ser1590Cys)	MYO16 (S1568C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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