ClinVar for MedGen (Select 334498) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 303

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953741	NM_003476.5(CSRP3):c.162G>T (p.Ser54=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2953354	NM_003476.5(CSRP3):c.157G>A (p.Glu53Lys)	CSRP3 (E53K)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2951106	NM_003476.5(CSRP3):c.112+19C>T	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2951005	NM_003476.5(CSRP3):c.279del (p.Gln93fs)	CSRP3 (Q93fs)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GPathogenic
Select item 2950293	NM_003476.5(CSRP3):c.402G>A (p.Met134Ile)	CSRP3 (M134I +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2950106	NM_003476.5(CSRP3):c.284C>G (p.Ser95Cys)	CSRP3 (S95C +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2950042	NM_003476.5(CSRP3):c.182G>A (p.Cys61Tyr)	CSRP3 (C61Y)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2947685	NM_003476.5(CSRP3):c.414+1G>A	CSRP3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely pathogenic
Select item 2945917	NM_003476.5(CSRP3):c.144A>C (p.Thr48=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2945809	NM_003476.5(CSRP3):c.187G>T (p.Gly63Trp)	CSRP3 (G63W)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2941886	NM_003476.5(CSRP3):c.281+2T>C	CSRP3	Single nucleotide variant (intron variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely pathogenic
Select item 2940568	NM_003476.5(CSRP3):c.113-3C>A	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2940456	NM_003476.5(CSRP3):c.479C>A (p.Thr160Asn)	CSRP3 (T160N +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2939914	NM_003476.5(CSRP3):c.481G>A (p.Asp161Asn)	CSRP3 (D161N)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2939809	NM_003476.5(CSRP3):c.126G>A (p.Lys42=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2939359	NM_003476.5(CSRP3):c.349T>C (p.Ser117Pro)	CSRP3 (S117P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2939215	NM_003476.5(CSRP3):c.298C>A (p.Arg100Ser)	CSRP3 (R100S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2938196	NM_003476.5(CSRP3):c.113-20A>T	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +1 more	GLikely benign
Select item 2938155	NM_003476.5(CSRP3):c.338A>C (p.Lys113Thr)	CSRP3 (K113T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2937037	NM_003476.5(CSRP3):c.136A>G (p.Ser46Gly)	CSRP3 (S46G)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2936804	NM_003476.5(CSRP3):c.533C>T (p.Pro178Leu)	CSRP3 (P122S +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2936215	NM_003476.5(CSRP3):c.385G>T (p.Ala129Ser)	CSRP3 (M72I +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2935053	NM_003476.5(CSRP3):c.415-18C>G	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +1 more	GLikely benign
Select item 2934852	NM_003476.5(CSRP3):c.55C>G (p.His19Asp)	CSRP3 (H19D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2934222	NM_003476.5(CSRP3):c.78T>G (p.Asn26Lys)	CSRP3 (N26K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2933974	NM_003476.5(CSRP3):c.460C>G (p.Leu154Val)	CSRP3 (L154V)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2932324	NM_003476.5(CSRP3):c.186T>G (p.Tyr62Ter)	CSRP3 (Y62*)	Single nucleotide variant (nonsense +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GPathogenic
Select item 2931020	NM_003476.5(CSRP3):c.156T>C (p.His52=)	CSRP3	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1M +1 more	GLikely benign
Select item 2930240	NM_003476.5(CSRP3):c.35C>G (p.Ala12Gly)	CSRP3 (A12G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2929440	NM_003476.5(CSRP3):c.414+8C>T	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2929319	NM_003476.5(CSRP3):c.238C>G (p.Leu80Val)	CSRP3 (L80V)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2928941	NM_003476.5(CSRP3):c.113-17C>T	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2928674	NM_003476.5(CSRP3):c.38G>A (p.Cys13Tyr)	CSRP3 (C13Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2927137	NM_003476.5(CSRP3):c.222A>C (p.Gly74=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2926603	NM_003476.5(CSRP3):c.112+11T>C	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2925361	NM_003476.5(CSRP3):c.481G>C (p.Asp161His)	CSRP3 (D161H)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2923597	NM_003476.5(CSRP3):c.414+7C>A	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2921825	NM_003476.5(CSRP3):c.391G>C (p.Glu131Gln)	CSRP3 (E131Q)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2577394	NM_003476.5(CSRP3):c.509-20C>T	CSRP3	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2447689	NM_003476.5(CSRP3):c.496C>G (p.Leu166Val)	CSRP3 (N109K +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 12 +3 more	GUncertain significance
Select item 2424683	NC_000011.9:g.(?_19204217)_(19209871_?)del	CSRP3	Deletion	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2424682	NC_000011.9:g.(?_18418390)_(19204313_?)del	CSRP3, IGSF22 +11 more	Deletion	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2418633	NM_003476.5(CSRP3):c.281+3G>A	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2200413	NM_003476.5(CSRP3):c.43A>G (p.Lys15Glu)	CSRP3 (K15E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2178232	NM_003476.5(CSRP3):c.377C>T (p.Ser126Leu)	CSRP3 (Q70* +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2167783	NM_003476.5(CSRP3):c.437G>T (p.Arg146Leu)	CSRP3 (A90S +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2159167	NM_003476.5(CSRP3):c.282-15G>A	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +1 more	GLikely benign
Select item 2156444	NM_003476.5(CSRP3):c.141G>T (p.Thr47=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2148052	NM_003476.5(CSRP3):c.415-3C>T	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2145913	NM_003476.5(CSRP3):c.273G>A (p.Gln91=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1M +1 more	GLikely benign
Select item 2142261	NM_003476.5(CSRP3):c.415-11G>A	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2135545	NM_003476.5(CSRP3):c.345A>G (p.Gly115=)	CSRP3 (E59G)	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2127907	NM_003476.5(CSRP3):c.240C>G (p.Leu80=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2119396	NM_003476.5(CSRP3):c.133G>A (p.Asp45Asn)	CSRP3 (D45N)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2106375	NM_003476.5(CSRP3):c.112+12G>A	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2106048	NM_003476.5(CSRP3):c.508+9_508+15dup	CSRP3	Duplication (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2105932	NM_003476.5(CSRP3):c.415-10T>A	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2100939	NM_003476.5(CSRP3):c.508+5G>C	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2086690	NM_003476.5(CSRP3):c.285C>T (p.Ser95=)	CSRP3 (P39L)	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2064029	NM_003476.5(CSRP3):c.5C>A (p.Pro2Gln)	CSRP3 (P2Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2061837	NM_003476.5(CSRP3):c.231T>C (p.Ala77=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 2056363	NM_003476.5(CSRP3):c.155A>C (p.His52Pro)	CSRP3 (H52P)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 2025664	NM_003476.5(CSRP3):c.415-6C>T	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +1 more	GLikely benign
Select item 2000089	NM_003476.5(CSRP3):c.553G>A (p.Gly185Ser)	CSRP3 (G185S)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 1991683	NM_003476.5(CSRP3):c.508+7G>T	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 1976536	NM_003476.5(CSRP3):c.414+7C>T	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 1956195	NM_003476.5(CSRP3):c.282-19A>G	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 1953261	NM_003476.5(CSRP3):c.516T>A (p.Tyr172Ter)	CSRP3 (Y172* +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 1941982	NM_003476.5(CSRP3):c.270G>C (p.Leu90=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 1936274	NM_003476.5(CSRP3):c.51C>A (p.Val17=)	CSRP3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 1930614	NM_003476.5(CSRP3):c.113-17C>A	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 1929755	NM_003476.5(CSRP3):c.370G>A (p.Gly124Ser)	CSRP3 (G124S)	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 1790855	NM_003476.5(CSRP3):c.240C>T (p.Leu80=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1M +2 more	GLikely benign
Select item 1790275	NM_003476.5(CSRP3):c.236G>C (p.Cys79Ser)	CSRP3 (C79S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1M +2 more	GUncertain significance
Select item 1782471	NM_003476.5(CSRP3):c.190C>A (p.Arg64Ser)	CSRP3 (R64S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1M +2 more	GUncertain significance
Select item 1749837	NM_003476.5(CSRP3):c.580G>C (p.Glu194Gln)	CSRP3 (E194Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1749789	NM_003476.5(CSRP3):c.120C>T (p.Cys40=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1747410	NM_003476.5(CSRP3):c.541A>G (p.Ile181Val)	CSRP3 (I181V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1738272	NM_003476.5(CSRP3):c.415-2A>C	CSRP3	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1M +2 more	GConflicting classifications of pathogenicity
Select item 1734830	NM_003476.5(CSRP3):c.377C>A (p.Ser126Ter)	CSRP3 (Q70K +1 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1M +2 more	GConflicting classifications of pathogenicity
Select item 1730583	NM_003476.5(CSRP3):c.335C>A (p.Ala112Glu)	CSRP3 (A112E)	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1M +2 more	GUncertain significance
Select item 1729392	NM_003476.5(CSRP3):c.324C>T (p.Ser108=)	CSRP3 (P52L)	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1M +3 more	GConflicting classifications of pathogenicity
Select item 1721336	NM_003476.5(CSRP3):c.301T>A (p.Ser101Thr)	CSRP3 (S101T)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 1699784	NM_003476.5(CSRP3):c.156T>A (p.His52Gln)	CSRP3 (H52Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1678495	NM_003476.5(CSRP3):c.424A>G (p.Lys142Glu)	CSRP3 (K142E)	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1656096	NM_003476.5(CSRP3):c.309C>G (p.Thr103=)	CSRP3 (P47R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1641700	NM_003476.5(CSRP3):c.414+16T>C	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 1626908	NM_003476.5(CSRP3):c.201C>T (p.Gly67=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1M +1 more	GLikely benign
Select item 1616730	NM_003476.5(CSRP3):c.508+17A>G	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +1 more	GLikely benign
Select item 1607322	NM_003476.5(CSRP3):c.339G>A (p.Lys113=)	CSRP3 (S57N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1584416	NM_003476.5(CSRP3):c.501T>C (p.Tyr167=)	CSRP3 (I111T)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 1583979	NM_003476.5(CSRP3):c.147C>T (p.Val49=)	CSRP3	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1576211	NM_003476.5(CSRP3):c.279A>G (p.Gln93=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 1573225	NM_003476.5(CSRP3):c.415-16T>C	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +1 more	GLikely benign
Select item 1567106	NM_003476.5(CSRP3):c.509-5C>T	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +1 more	GLikely benign
Select item 1558579	NM_003476.5(CSRP3):c.381C>A (p.Val127=)	CSRP3 (S71Y)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1M +1 more	GLikely benign
Select item 1553135	NM_003476.5(CSRP3):c.294G>C (p.Pro98=)	CSRP3 (R42P)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 1533360	NM_003476.5(CSRP3):c.509-8A>G	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 1519262	NM_003476.5(CSRP3):c.439T>C (p.Cys147Arg)	CSRP3 (C147R)	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1M +2 more	GUncertain significance
Select item 1518048	NM_003476.5(CSRP3):c.562C>G (p.Gln188Glu)	CSRP3 (H131Q +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance

<< First< Prev

Page of 4