8048[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 303944	NM_003476.5(CSRP3):c.*638T>C	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 303945	NM_003476.5(CSRP3):c.*629T>C	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12	GBenign
Select item 303946	NM_003476.5(CSRP3):c.*575T>C	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 878158	NM_003476.5(CSRP3):c.*559G>A	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 303947	NM_003476.5(CSRP3):c.*504A>G	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12	GUncertain significance
Select item 303948	NM_003476.5(CSRP3):c.*450T>G	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12	GLikely benign
Select item 878159	NM_003476.5(CSRP3):c.*415A>G	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 878160	NM_003476.5(CSRP3):c.*292A>T	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12	GUncertain significance
Select item 303949	NM_003476.5(CSRP3):c.*245T>C	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 1219477	NM_003476.5(CSRP3):c.*174T>C	CSRP3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 303950	NM_003476.5(CSRP3):c.*159C>T	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 163004	NM_003476.5(CSRP3):c.*12G>A	CSRP3 (R143H)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 1803271	NM_003476.5(CSRP3):c.583T>C (p.Ter195Arg)	CSRP3	Single nucleotide variant (stop lost +1 more)	Hypertrophic cardiomyopathy 12	GUncertain significance
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 1749926	NM_003476.5(CSRP3):c.582A>G (p.Glu194=)	CSRP3 (N138S)	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 163005	NM_003476.5(CSRP3):c.579_582del (p.Lys193fs)	CSRP3 (K193fs +1 more)	Microsatellite (frameshift variant)	not specified +1 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 263453	NM_003476.5(CSRP3):c.575del (p.Lys192fs)	CSRP3 (R136fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1749315	NM_003476.5(CSRP3):c.572A>T (p.Glu191Val)	CSRP3 (E191V +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	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 1677636	NM_003476.5(CSRP3):c.551G>A (p.Gly184Glu)	CSRP3 (E128K +1 more)	Single nucleotide variant (missense variant)	not provided	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 1304985	NM_003476.5(CSRP3):c.543del (p.Ile181fs)	CSRP3 (I181fs +1 more)	Deletion (frameshift variant)	not provided	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)	Cardiovascular phenotype +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 1305687	NM_003476.5(CSRP3):c.532C>G (p.Pro178Ala)	CSRP3 (P178A)	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +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 1329258	NM_003476.5(CSRP3):c.526T>G (p.Phe176Val)	CSRP3 (F176V +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	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 1745475	NM_003476.5(CSRP3):c.511T>C (p.Cys171Arg)	CSRP3 (C171R)	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 977168	NM_003476.5(CSRP3):c.511T>G (p.Cys171Gly)	CSRP3 (C171G +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 44700	NM_003476.5(CSRP3):c.509-3_509-2del	CSRP3	Microsatellite (splice acceptor variant)	Hypertrophic cardiomyopathy 12 +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 626502	NM_003476.5(CSRP3):c.509-7T>G	CSRP3	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
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 201691	NM_003476.5(CSRP3):c.509-20C>A	CSRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 672516	NM_003476.5(CSRP3):c.509-110T>C	CSRP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673007	NM_003476.5(CSRP3):c.509-130C>T	CSRP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675629	NM_003476.5(CSRP3):c.509-201C>T	CSRP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224965	NM_003476.5(CSRP3):c.509-215T>C	CSRP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175655	NM_003476.5(CSRP3):c.508+113del	CSRP3	Deletion (intron variant)	not provided	GLikely benign
Select item 671080	NM_003476.5(CSRP3):c.508+73T>A	CSRP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 201690	NM_003476.5(CSRP3):c.508+18C>T	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +3 more	GBenign
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 201696	NM_003476.5(CSRP3):c.508G>T (p.Val170Phe)	CSRP3 (V170F +1 more)	Single nucleotide variant (missense variant)	not specified	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 626503	NM_003476.5(CSRP3):c.497T>G (p.Leu166Arg)	CSRP3 (L166R +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
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 978341	NM_003476.5(CSRP3):c.483dup (p.Lys162fs)	CSRP3 (K162fs +1 more)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 1	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 201689	NM_003476.5(CSRP3):c.465G>T (p.Glu155Asp)	CSRP3 (E155D +1 more)	Single nucleotide variant (missense variant)	not specified	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 2625123	NM_003476.5(CSRP3):c.458G>T (p.Ser153Ile)	CSRP3 (S153I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 44698	NM_003476.5(CSRP3):c.456G>A (p.Lys152=)	CSRP3 (R96K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 1741476	NM_003476.5(CSRP3):c.455A>G (p.Lys152Arg)	CSRP3 (K152R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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)	Cardiomyopathy +5 more	GUncertain significance

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