ClinVar for Gene (Select 84676) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379519	NM_032588.4(TRIM63):c.280A>G (p.Arg94Gly)	TRIM63 (R94G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363121	NM_032588.4(TRIM63):c.781G>T (p.Glu261Ter)	TRIM63 (E261*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3363120	NM_032588.4(TRIM63):c.68G>A (p.Cys23Tyr)	TRIM63 (C23Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3328881	NM_032588.4(TRIM63):c.785C>T (p.Thr262Ile)	TRIM63 (T262I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328880	NM_032588.4(TRIM63):c.962C>T (p.Ala321Val)	TRIM63 (A321V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328879	NM_032588.4(TRIM63):c.961G>A (p.Ala321Thr)	TRIM63 (A321T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328878	NM_032588.4(TRIM63):c.304A>T (p.Ile102Phe)	TRIM63 (I102F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328877	NM_032588.4(TRIM63):c.1013A>C (p.Asp338Ala)	TRIM63 (D338A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328876	NM_032588.4(TRIM63):c.404T>C (p.Leu135Pro)	TRIM63 (L135P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328875	NM_032588.4(TRIM63):c.900G>C (p.Gln300His)	TRIM63 (Q300H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328874	NM_032588.4(TRIM63):c.453C>G (p.His151Gln)	TRIM63 (H151Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328873	NM_032588.4(TRIM63):c.731C>T (p.Ala244Val)	TRIM63 (A244V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3237389	NM_032588.4(TRIM63):c.437_442delinsCC (p.Lys146fs)	TRIM63 (K146fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3236462	NM_032588.4(TRIM63):c.265G>A (p.Val89Met)	TRIM63 (V89M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 3182661	NM_032588.4(TRIM63):c.97C>G (p.Pro33Ala)	TRIM63 (P33A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182660	NM_032588.4(TRIM63):c.857T>C (p.Ile286Thr)	TRIM63 (I286T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182659	NM_032588.4(TRIM63):c.680T>C (p.Leu227Ser)	TRIM63 (L227S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182658	NM_032588.4(TRIM63):c.41T>C (p.Met14Thr)	TRIM63 (M14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182657	NM_032588.4(TRIM63):c.357C>A (p.His119Gln)	TRIM63 (H119Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182656	NM_032588.4(TRIM63):c.229A>G (p.Thr77Ala)	TRIM63 (T77A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182655	NM_032588.4(TRIM63):c.140G>A (p.Cys47Tyr)	TRIM63 (C47Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182654	NM_032588.4(TRIM63):c.113C>T (p.Pro38Leu)	TRIM63 (P38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062228	NM_032588.4(TRIM63):c.277C>T (p.Gln93Ter)	TRIM63 (Q93*)	Single nucleotide variant (nonsense)	Idiopathic cardiomyopathy	GPathogenic
Select item 3057405	NM_032588.4(TRIM63):c.624G>A (p.Glu208=)	TRIM63	Single nucleotide variant (synonymous variant)	TRIM63-related disorder	GLikely benign
Select item 3030012	NM_032588.4(TRIM63):c.420C>A (p.Pro140=)	TRIM63	Single nucleotide variant (synonymous variant)	TRIM63-related disorder	GLikely benign
Select item 2713230	NM_032588.4(TRIM63):c.855-7C>G	TRIM63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2682350	NM_032588.4(TRIM63):c.980-16T>C	LOC122056803, TRIM63	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2636630	NM_032588.4(TRIM63):c.831+2T>G	TRIM63	Single nucleotide variant (splice donor variant)	TRIM63-related disorder	GUncertain significance
Select item 2594636	NM_032588.4(TRIM63):c.251T>G (p.Met84Arg)	TRIM63 (M84R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581237	NM_032588.4(TRIM63):c.170C>G (p.Pro57Arg)	TRIM63 (P57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581236	NM_032588.4(TRIM63):c.625C>G (p.Leu209Val)	TRIM63 (L209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581235	NM_032588.4(TRIM63):c.951C>T (p.Asp317=)	TRIM63	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2581233	NM_032588.4(TRIM63):c.332+4G>T	TRIM63	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2577168	NM_032588.4(TRIM63):c.72T>C (p.Pro24=)	TRIM63	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2544614	NM_032588.4(TRIM63):c.548G>A (p.Arg183His)	TRIM63 (R183H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543560	NM_032588.4(TRIM63):c.376G>A (p.Glu126Lys)	TRIM63 (E126K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543451	NM_032588.4(TRIM63):c.407C>T (p.Thr136Met)	TRIM63 (T136M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526644	NM_032588.4(TRIM63):c.221G>A (p.Arg74His)	TRIM63 (R74H)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2514548	NM_032588.4(TRIM63):c.965T>C (p.Ile322Thr)	TRIM63 (I322T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503837	NM_032588.4(TRIM63):c.866C>T (p.Ala289Val)	TRIM63 (A289V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2480133	NM_032588.4(TRIM63):c.589G>T (p.Val197Leu)	TRIM63 (V197L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474892	NM_032588.4(TRIM63):c.148G>T (p.Asp50Tyr)	TRIM63 (D50Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472598	NM_032588.4(TRIM63):c.551T>G (p.Val184Gly)	TRIM63 (V184G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 2405233	NM_032588.4(TRIM63):c.184C>T (p.Arg62Trp)	TRIM63 (R62W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404017	NM_032588.4(TRIM63):c.568C>A (p.Gln190Lys)	TRIM63 (Q190K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377175	NM_032588.4(TRIM63):c.235C>T (p.Arg79Cys)	TRIM63 (R79C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2368766	NM_032588.4(TRIM63):c.149A>G (p.Asp50Gly)	TRIM63 (D50G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353439	NM_032588.4(TRIM63):c.338C>T (p.Pro113Leu)	TRIM63 (P113L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2295336	NM_032588.4(TRIM63):c.532G>C (p.Val178Leu)	TRIM63 (V178L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247024	NM_032588.4(TRIM63):c.688C>T (p.Arg230Trp)	TRIM63 (R230W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220588	NM_032588.4(TRIM63):c.185G>A (p.Arg62Gln)	TRIM63 (R62Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2220462	NM_032588.4(TRIM63):c.587G>A (p.Arg196Gln)	TRIM63 (R196Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805291	NM_032588.4(TRIM63):c.1051+1G>A	TRIM63	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1699159	NM_032588.4(TRIM63):c.335G>A (p.Arg112Gln)	TRIM63 (R112Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1699157	NM_032588.4(TRIM63):c.427T>C (p.Ser143Pro)	TRIM63 (S143P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1341062	GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3	ARID1A, CATSPER4 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1314830	NM_032588.4(TRIM63):c.888del (p.Lys297fs)	TRIM63 (K297fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1298266	NM_032588.4(TRIM63):c.12G>A (p.Lys4=)	TRIM63	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1297528	NM_032588.4(TRIM63):c.609C>A (p.His203Gln)	TRIM63 (H203Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1287450	NM_032588.4(TRIM63):c.854+106T>C	TRIM63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285214	NM_032588.4(TRIM63):c.*2G>A	TRIM63	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1285188	NM_032588.4(TRIM63):c.597+7G>A	TRIM63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285096	NM_032588.4(TRIM63):c.644C>T (p.Thr215Met)	TRIM63 (T215M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1284939	NM_032588.4(TRIM63):c.1052-21_1052-20del	TRIM63	Deletion (intron variant)	not specified	GLikely benign
Select item 1283114	NM_032588.4(TRIM63):c.160-43A>G	TRIM63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283076	NM_032588.4(TRIM63):c.1041G>A (p.Gly347=)	TRIM63	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1280531	NM_032588.4(TRIM63):c.160-40T>G	TRIM63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279875	NM_032588.4(TRIM63):c.333-144A>T	TRIM63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275187	NM_032588.4(TRIM63):c.979+42_979+48del	TRIM63	Deletion (intron variant)	not provided	GBenign
Select item 1272333	NM_032588.4(TRIM63):c.501+32T>G	TRIM63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271566	NC_000001.11:g.26067810G>T	TRIM63	Single nucleotide variant	not provided	GBenign
Select item 1269179	NM_032588.4(TRIM63):c.980-274_980-273insA	LOC122056803, TRIM63	Insertion (intron variant)	not provided	GBenign
Select item 1267089	NM_032588.4(TRIM63):c.855-57T>C	TRIM63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264681	NM_032588.4(TRIM63):c.267G>T (p.Val89=)	TRIM63	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1258664	NM_032588.4(TRIM63):c.332+96T>A	TRIM63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256725	NM_032588.4(TRIM63):c.332+224G>A	TRIM63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246258	NC_000001.11:g.26067710C>T	TRIM63	Single nucleotide variant	not provided	GBenign
Select item 1240550	NM_032588.4(TRIM63):c.709A>G (p.Lys237Glu)	TRIM63 (K237E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1237163	NM_032588.4(TRIM63):c.979+76G>C	TRIM63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228184	NM_032588.4(TRIM63):c.598-36C>G	TRIM63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226300	NM_032588.4(TRIM63):c.831+191A>C	TRIM63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182874	NM_032588.4(TRIM63):c.598-192C>A	TRIM63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180375	NM_032588.4(TRIM63):c.501+234C>T	TRIM63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177529	NM_032588.4(TRIM63):c.115T>G (p.Cys39Gly)	TRIM63 (C39G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 985254	NM_032588.4(TRIM63):c.481_482del (p.Ser161fs)	TRIM63 (S161fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 978746	NM_032588.4(TRIM63):c.390C>G (p.Ile130Met)	TRIM63 (I130M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 978745	NM_032588.4(TRIM63):c.220C>T (p.Arg74Cys)	TRIM63 (R74C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 806097	NM_032588.4(TRIM63):c.805G>A (p.Glu269Lys)	TRIM63 (E269K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 707119	NM_032588.4(TRIM63):c.135G>C (p.Arg45=)	TRIM63	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 703828	NM_032588.4(TRIM63):c.162T>G (p.Ala54=)	TRIM63	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 703809	NM_032588.4(TRIM63):c.375C>T (p.His125=)	TRIM63	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 703806	NM_032588.4(TRIM63):c.502-8C>T	TRIM63	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 623677	NM_032588.4(TRIM63):c.395T>C (p.Ile132Thr)	TRIM63 (I132T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 373560	NM_032588.4(TRIM63):c.206C>T (p.Ser69Phe)	TRIM63 (S69F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2