C1843808[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 632157	NM_003476.5(CSRP3):c.583T>A (p.Ter195Arg)	CSRP3 (N138K)	Single nucleotide variant (missense variant +1 more)	CSRP3-Related Disorders +3 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 1398424	NM_003476.5(CSRP3):c.576G>C (p.Lys192Asn)	CSRP3 (K192N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 520519	NM_003476.5(CSRP3):c.568G>T (p.Val190Leu)	CSRP3 (V190L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 451189	NM_003476.5(CSRP3):c.562CAA[1] (p.Gln189del)	CSRP3 (Q189del +1 more)	Microsatellite (inframe_deletion)	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
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 201695	NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg)	CSRP3 (G182R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 580283	NM_003476.5(CSRP3):c.542T>C (p.Ile181Thr)	CSRP3 (I181T)	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +2 more	GUncertain significance
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 179488	NM_003476.5(CSRP3):c.539G>T (p.Gly180Val)	CSRP3 (G180V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 698567	NM_003476.5(CSRP3):c.538G>T (p.Gly180Cys)	CSRP3 (G180C)	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GConflicting classifications of pathogenicity
Select item 303951	NM_003476.5(CSRP3):c.537G>A (p.Thr179=)	CSRP3 (R123Q)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 163007	NM_003476.5(CSRP3):c.536C>T (p.Thr179Met)	CSRP3 (T179M +1 more)	Single nucleotide variant (missense variant)	CSRP3-related condition +5 more	GUncertain significance
Select item 44701	NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)	CSRP3 (T179A)	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 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 543039	NM_003476.5(CSRP3):c.532C>T (p.Pro178Ser)	CSRP3 (P178S)	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 476576	NM_003476.5(CSRP3):c.524dup (p.Asn175fs)	CSRP3 (I119fs +1 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 1358328	NM_003476.5(CSRP3):c.524A>G (p.Asn175Ser)	CSRP3 (I119V +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 842508	NM_003476.5(CSRP3):c.518C>T (p.Ala173Val)	CSRP3 (P117S +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
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 178967	NM_003476.5(CSRP3):c.516T>C (p.Tyr172=)	CSRP3 (M116T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1M +3 more	GLikely benign
Select item 836572	NM_003476.5(CSRP3):c.514T>C (p.Tyr172His)	CSRP3 (Y172H)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 1110121	NM_003476.5(CSRP3):c.513C>T (p.Cys171=)	CSRP3 (A115V)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +2 more	GLikely benign
Select item 44700	NM_003476.5(CSRP3):c.509-3_509-2del	CSRP3	Microsatellite (splice acceptor variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 1533360	NM_003476.5(CSRP3):c.509-8A>G	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 511532	NM_003476.5(CSRP3):c.509-16C>T	CSRP3	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
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 201690	NM_003476.5(CSRP3):c.508+18C>T	CSRP3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GBenign/Likely 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 514197	NM_003476.5(CSRP3):c.508+17A>T	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +2 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 178892	NM_003476.5(CSRP3):c.508+9T>C	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +2 more	GBenign/Likely benign
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 2100939	NM_003476.5(CSRP3):c.508+5G>C	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 570553	NM_003476.5(CSRP3):c.508+2T>C	CSRP3	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
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 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 1482686	NM_003476.5(CSRP3):c.490G>A (p.Gly164Arg)	CSRP3 (M107I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1M +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 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 1160310	NM_003476.5(CSRP3):c.480T>C (p.Thr160=)	CSRP3 (L104P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1M +1 more	GLikely benign
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 543038	NM_003476.5(CSRP3):c.472A>G (p.Asn158Asp)	CSRP3 (N158D)	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GUncertain significance
Select item 1486577	NM_003476.5(CSRP3):c.468del (p.Thr157fs)	CSRP3 (P100fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 1303968	NM_003476.5(CSRP3):c.467C>T (p.Ser156Phe)	CSRP3 (P100S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1M +2 more	GUncertain significance
Select item 514311	NM_003476.5(CSRP3):c.465G>A (p.Glu155=)	CSRP3 (S99N)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +2 more	GLikely benign
Select item 476575	NM_003476.5(CSRP3):c.461T>G (p.Leu154Arg)	CSRP3 (L154R +1 more)	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 963816	NM_003476.5(CSRP3):c.459T>A (p.Ser153Arg)	CSRP3 (S153R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 855956	NM_003476.5(CSRP3):c.457_458del (p.Leu154fs)	CSRP3 (R96fs +1 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 239543	NM_003476.5(CSRP3):c.452G>A (p.Gly151Glu)	CSRP3 (G151E +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 219444	NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)	CSRP3 (C150Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 846160	NM_003476.5(CSRP3):c.445A>T (p.Ile149Phe)	CSRP3 (I149F)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 1424181	NM_003476.5(CSRP3):c.443C>T (p.Ala148Val)	CSRP3 (P92S +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
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 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 163009	NM_003476.5(CSRP3):c.437G>A (p.Arg146His)	CSRP3 (R146H +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 426380	NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys)	CSRP3 (R146C)	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1M +5 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 1204953	NM_003476.5(CSRP3):c.415-1G>T	CSRP3	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 834445	NM_003476.5(CSRP3):c.415-1G>A	CSRP3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 12 +1 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 2148052	NM_003476.5(CSRP3):c.415-3C>T	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +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 1472253	NM_003476.5(CSRP3):c.415-7_415-6delinsTA	CSRP3	Indel (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 1456130	NM_003476.5(CSRP3):c.415-9G>C	CSRP3	Single nucleotide variant (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 2142261	NM_003476.5(CSRP3):c.415-11G>A	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 303952	NM_003476.5(CSRP3):c.415-11G>T	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GConflicting classifications of pathogenicity
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 2935053	NM_003476.5(CSRP3):c.415-18C>G	CSRP3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1M +1 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 2929440	NM_003476.5(CSRP3):c.414+8C>T	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
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 1976536	NM_003476.5(CSRP3):c.414+7C>T	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 303953	NM_003476.5(CSRP3):c.414+6A>G	CSRP3	Single nucleotide variant (intron variant)	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 915578	NM_003476.5(CSRP3):c.414+1G>T	CSRP3	Single nucleotide variant (splice donor variant)	Cardiomyopathy +2 more	GLikely pathogenic
Select item 543044	NM_003476.5(CSRP3):c.411C>A (p.Gly137=)	CSRP3 (A81E)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GLikely benign
Select item 950593	NM_003476.5(CSRP3):c.409G>T (p.Gly137Cys)	CSRP3 (G137C)	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 1438074	NM_003476.5(CSRP3):c.403G>A (p.Gly135Arg)	CSRP3 (W78* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypertrophic cardiomyopathy 12 +2 more	GUncertain significance
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 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 1498034	NM_003476.5(CSRP3):c.386C>G (p.Ala129Gly)	CSRP3 (L73V +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 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 44697	NM_003476.5(CSRP3):c.379G>A (p.Val127Ile)	CSRP3 (V127I)	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +3 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 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 1008253	NM_003476.5(CSRP3):c.377C>G (p.Ser126Ter)	CSRP3 (Q70E +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GPathogenic
Select item 543042	NM_003476.5(CSRP3):c.373A>T (p.Lys125Ter)	CSRP3 (K125*)	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GPathogenic
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 836666	NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter)	CSRP3 (C123* +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1M +3 more	GConflicting classifications of pathogenicity
Select item 578673	NM_003476.5(CSRP3):c.367T>C (p.Cys123Arg)	CSRP3 (C123R)	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +2 more	GUncertain significance
Select item 35966	NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln)	CSRP3 (R122Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 372584	NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter)	CSRP3 (R122*)	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 626505	NM_003476.5(CSRP3):c.362del (p.Pro121fs)	CSRP3 (L65fs +1 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 12 +3 more	GConflicting classifications of pathogenicity
Select item 1062510	NM_003476.5(CSRP3):c.358T>C (p.Cys120Arg)	CSRP3 (C120R)	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +2 more	GUncertain significance

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