125972[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 1296282	NC_000019.10:g.16478939T>C	CALR3	Single nucleotide variant	not provided	GBenign
Select item 1221784	NC_000019.10:g.16478996A>G	CALR3	Single nucleotide variant	not provided	GBenign
Select item 1141144	NM_145046.5(CALR3):c.1152T>G (p.Leu384=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1046730	NM_145046.5(CALR3):c.1147G>A (p.Glu383Lys)	CALR3 (E383K)	Single nucleotide variant (missense variant)	CALR3-related disorder +1 more	GUncertain significance
Select item 2187624	NM_145046.5(CALR3):c.1134T>A (p.Phe378Leu)	CALR3 (F378L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 573600	NM_145046.5(CALR3):c.1129_1132del (p.Gln377fs)	CALR3 (Q377fs)	Microsatellite (frameshift variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 847573	NM_145046.5(CALR3):c.1131A>G (p.Gln377=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2771166	NM_145046.5(CALR3):c.1129C>A (p.Gln377Lys)	CALR3 (Q377K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 574380	NM_145046.5(CALR3):c.1129C>G (p.Gln377Glu)	CALR3 (Q377E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 471788	NM_145046.5(CALR3):c.1120T>G (p.Tyr374Asp)	CALR3 (Y374D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2727546	NM_145046.5(CALR3):c.1114G>T (p.Glu372Ter)	CALR3 (E372*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 539147	NM_145046.5(CALR3):c.1114G>C (p.Glu372Gln)	CALR3 (E372Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 410622	NM_145046.5(CALR3):c.1114G>A (p.Glu372Lys)	CALR3 (E372K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2076510	NM_145046.5(CALR3):c.1113C>T (p.His371=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 699312	NM_145046.5(CALR3):c.1110G>A (p.Arg370=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 471787	NM_145046.5(CALR3):c.1104T>A (p.Ile368=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1556217	NM_145046.5(CALR3):c.1095G>A (p.Ser365=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1152522	NM_145046.5(CALR3):c.1095G>C (p.Ser365=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 647084	NM_145046.5(CALR3):c.1094C>T (p.Ser365Leu)	CALR3 (S365L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 696721	NM_145046.5(CALR3):c.1089G>T (p.Leu363=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 539148	NM_145046.5(CALR3):c.1087C>T (p.Leu363=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GBenign
Select item 1569295	NM_145046.5(CALR3):c.1080G>A (p.Glu360=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1284316	NM_145046.5(CALR3):c.1068_1069del (p.Glu357fs)	CALR3 (E357fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 410621	NM_145046.5(CALR3):c.1069G>A (p.Glu357Lys)	CALR3 (E357K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2724046	NM_145046.5(CALR3):c.1068C>T (p.Arg356=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1510882	NM_145046.5(CALR3):c.1067G>A (p.Arg356His)	CALR3 (R356H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 416237	NM_145046.5(CALR3):c.1067G>T (p.Arg356Leu)	CALR3 (R356L)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GBenign
Select item 660734	NM_145046.5(CALR3):c.1066C>T (p.Arg356Cys)	CALR3 (R356C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2185592	NM_145046.5(CALR3):c.1064C>T (p.Ala355Val)	CALR3 (A355V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2169185	NM_145046.5(CALR3):c.1058A>G (p.Lys353Arg)	CALR3 (K353R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2181550	NM_145046.5(CALR3):c.1043C>A (p.Ala348Asp)	CALR3 (A348D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2088111	NM_145046.5(CALR3):c.1036A>G (p.Ile346Val)	CALR3 (I346V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2975311	NM_145046.5(CALR3):c.1013G>T (p.Gly338Val)	CALR3 (G338V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 721429	NM_145046.5(CALR3):c.1012-10_1012-9del	CALR3	Deletion (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 241948	NM_145046.5(CALR3):c.1012-9T>C	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19 +1 more	GBenign
Select item 1296283	NM_145046.5(CALR3):c.1012-86A>C	CALR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296281	NM_145046.5(CALR3):c.1012-167dup	CALR3	Duplication (intron variant)	not provided	GBenign
Select item 1296280	NM_145046.5(CALR3):c.1012-175C>T	CALR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274532	NM_145046.5(CALR3):c.1011+251T>C	CALR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230010	NM_145046.5(CALR3):c.1011+189C>T	CALR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240480	NM_145046.5(CALR3):c.1011+187G>A	CALR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2919208	NM_145046.5(CALR3):c.1011+16T>A	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1586728	NM_145046.5(CALR3):c.1011+12G>T	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2082200	NM_145046.5(CALR3):c.1011+11C>T	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 471786	NM_145046.5(CALR3):c.1003G>A (p.Glu335Lys)	CALR3 (E335K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2046984	NM_145046.5(CALR3):c.1002C>T (p.Gly334=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2184630	NM_145046.5(CALR3):c.992C>T (p.Ala331Val)	CALR3 (A331V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19 +1 more	GUncertain significance
Select item 2728251	NM_145046.5(CALR3):c.973G>A (p.Ala325Thr)	CALR3 (A325T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 496549	NM_145046.5(CALR3):c.972C>T (p.Tyr324=)	CALR3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 2693793	NM_145046.5(CALR3):c.969G>A (p.Glu323=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1480417	NM_145046.5(CALR3):c.962A>G (p.Asp321Gly)	CALR3 (D321G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1343388	NM_145046.5(CALR3):c.961G>A (p.Asp321Asn)	CALR3 (D321N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2819597	NM_145046.5(CALR3):c.960T>C (p.Asp320=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2153289	NM_145046.5(CALR3):c.941A>G (p.Asp314Gly)	CALR3 (D314G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1009504	NM_145046.5(CALR3):c.941A>T (p.Asp314Val)	CALR3 (D314V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1421633	NM_145046.5(CALR3):c.923G>T (p.Arg308Ile)	CALR3 (R308I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19 +1 more	GUncertain significance
Select item 1386119	NM_145046.5(CALR3):c.923G>A (p.Arg308Lys)	CALR3 (R308K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1174226	NM_145046.5(CALR3):c.919-178C>T	CALR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247930	NM_145046.5(CALR3):c.919-183A>G	CALR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225626	NM_145046.5(CALR3):c.918+321G>T	CALR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174213	NM_145046.5(CALR3):c.918+249G>A	CALR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225152	NM_145046.5(CALR3):c.918+47TTGTT[4]	CALR3	Microsatellite (intron variant)	not provided	GBenign
Select item 1287235	NM_145046.5(CALR3):c.918+58T>C	CALR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1586529	NM_145046.5(CALR3):c.918+16C>T	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 651507	NM_145046.5(CALR3):c.916C>A (p.Gln306Lys)	CALR3 (Q306K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1958259	NM_145046.5(CALR3):c.896C>T (p.Ala299Val)	CALR3 (A299V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 2819601	NM_145046.5(CALR3):c.891T>C (p.Ile297=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1677670	NM_145046.5(CALR3):c.891del (p.Ile297fs)	CALR3 (I297fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 220787	NM_145046.5(CALR3):c.861G>A (p.Thr287=)	CALR3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 2149510	NM_145046.5(CALR3):c.860C>T (p.Thr287Met)	CALR3 (T287M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1083470	NM_145046.5(CALR3):c.858G>A (p.Leu286=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2728849	NM_145046.5(CALR3):c.852C>G (p.Asp284Glu)	CALR3 (D284E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 192182	NM_145046.5(CALR3):c.850G>A (p.Asp284Asn)	CALR3 (D284N)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 1556893	NM_145046.5(CALR3):c.849C>T (p.Thr283=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 416239	NM_145046.5(CALR3):c.848C>T (p.Thr283Ile)	CALR3 (T283I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 520244	NM_145046.5(CALR3):c.833G>A (p.Arg278His)	CALR3 (R278H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19 +1 more	GUncertain significance
Select item 471795	NM_145046.5(CALR3):c.832C>T (p.Arg278Cys)	CALR3 (R278C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 192183	NM_145046.5(CALR3):c.820G>A (p.Val274Ile)	CALR3 (V274I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19 +3 more	GBenign
Select item 1153594	NM_145046.5(CALR3):c.816A>G (p.Lys272=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2919357	NM_145046.5(CALR3):c.813T>C (p.His271=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GBenign
Select item 2240022	NM_145046.5(CALR3):c.812A>G (p.His271Arg)	CALR3 (H271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 410618	NM_145046.5(CALR3):c.787G>C (p.Asp263His)	CALR3 (D263H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 575883	NM_145046.5(CALR3):c.787-3C>G	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 1170536	NM_145046.5(CALR3):c.787-14dup	CALR3	Duplication (intron variant)	Hypertrophic cardiomyopathy 19	GBenign
Select item 1139868	NM_145046.5(CALR3):c.787-8del	CALR3	Deletion (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1650886	NM_145046.5(CALR3):c.787-11T>G	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1296278	NM_145046.5(CALR3):c.787-23C>T	CALR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1602442	NM_145046.5(CALR3):c.786+18A>T	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2080464	NM_145046.5(CALR3):c.786+14_786+15del	CALR3	Deletion (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1604563	NM_145046.5(CALR3):c.786+9C>A	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 1481153	NM_145046.5(CALR3):c.786+3G>T	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 699281	NM_145046.5(CALR3):c.780G>A (p.Pro260=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 241952	NM_145046.5(CALR3):c.780G>T (p.Pro260=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 2148217	NM_145046.5(CALR3):c.779C>T (p.Pro260Leu)	CALR3 (P260L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1603406	NM_145046.5(CALR3):c.777C>A (p.Pro259=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 691670	NM_145046.5(CALR3):c.772_777delinsGCCAGG (p.Lys258_Pro259delinsAlaArg)	CALR3	Indel (missense variant)	Cardiomyopathy +1 more	GUncertain significance

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