7168[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 668727	NM_001018005.1(TPM1):c.-509C>A	TPM1	Single nucleotide variant	not provided	GBenign
Select item 668728	NM_001018005.1(TPM1):c.-420C>G	TPM1	Single nucleotide variant	not provided	GBenign
Select item 668729	NM_001018005.1(TPM1):c.-394C>G	TPM1	Single nucleotide variant	not provided	GBenign
Select item 668767	NM_001018005.1(TPM1):c.-341G>C	TPM1	Single nucleotide variant	not provided	GBenign
Select item 668730	NM_001018005.1(TPM1):c.-331C>G	TPM1	Single nucleotide variant	not provided	GBenign
Select item 1220336	NC_000015.10:g.63042556_63042557insAGGGCCG	TPM1	Insertion	not provided	GLikely benign
Select item 674392	NM_001018005.1(TPM1):c.-272A>C	TPM1	Single nucleotide variant	not provided	GLikely benign
Select item 674393	NM_001018005.1(TPM1):c.-264G>A	TPM1	Single nucleotide variant	not provided	GLikely benign
Select item 1198956	NC_000015.10:g.63042591C>T	TPM1	Single nucleotide variant	not provided	GLikely benign
Select item 369093	NM_001018005.1(TPM1):c.-206G>A	TPM1	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +2 more	GBenign/Likely benign
Select item 1290388	NC_000015.10:g.63042641A>G	TPM1	Single nucleotide variant	not provided	GBenign
Select item 316682	NM_001018005.1(TPM1):c.-186G>A	TPM1	Single nucleotide variant	Hypertrophic cardiomyopathy 3 +2 more	GConflicting classifications of pathogenicity
Select item 886076	NM_001018005.1(TPM1):c.-185G>C	TPM1	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1246057	NC_000015.10:g.63042678T>G	TPM1	Single nucleotide variant	not provided	GBenign
Select item 1226291	NC_000015.10:g.63042705C>G	TPM1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 316683	NM_001018005.1(TPM1):c.-114G>A	TPM1	Single nucleotide variant	Hypertrophic cardiomyopathy 3 +1 more	GUncertain significance
Select item 316684	NM_001018005.1(TPM1):c.-106C>T	TPM1	Single nucleotide variant	Hypertrophic cardiomyopathy 3 +1 more	GUncertain significance
Select item 316685	NM_001018005.1(TPM1):c.-94G>C	TPM1	Single nucleotide variant	Hypertrophic cardiomyopathy 3 +1 more	GUncertain significance
Select item 1303017	NC_000015.10:g.63042753_63042784del	TPM1	Deletion (genic upstream transcript variant)	not provided	GUncertain significance
Select item 1241219	NM_001018005.2(TPM1):c.-73C>T	TPM1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 316686	NM_001018005.2(TPM1):c.-48C>T	TPM1	Single nucleotide variant (5 prime UTR variant)	Dilated Cardiomyopathy, Dominant +1 more	GUncertain significance
Select item 887084	NM_001018005.2(TPM1):c.-47G>T	TPM1	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy 3 +1 more	GUncertain significance
Select item 508349	NM_001018005.2(TPM1):c.-41C>T	TPM1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2774656	NM_001018005.2(TPM1):c.-15C>G	TPM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 1254968	NM_001018005.2(TPM1):c.-14T>C	TPM1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 918953	NM_001018005.2(TPM1):c.-13C>A	TPM1	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 2774657	NM_001018005.2(TPM1):c.-12G>A	TPM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2774658	NM_001018005.2(TPM1):c.-10C>T	TPM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2774659	NM_001018005.2(TPM1):c.-7C>T	TPM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 926041	NM_001018005.2(TPM1):c.-7C>A	TPM1	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1Y +2 more	GUncertain significance
Select item 3232361	NM_001018005.2(TPM1):c.-5C>T	TPM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1308976	NM_001018005.2(TPM1):c.1A>G (p.Met1Val)	TPM1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1374193	NM_001018005.2(TPM1):c.2T>C (p.Met1Thr)	TPM1 (M1T)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 3 +2 more	GUncertain significance
Select item 43411	NM_001018005.2(TPM1):c.2del (p.Met1fs)	TPM1 (M1fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 408134	NM_001018005.2(TPM1):c.4G>C (p.Asp2His)	TPM1 (D2H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 887085	NM_001018005.2(TPM1):c.6C>T (p.Asp2=)	TPM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 1803177	NM_001018005.2(TPM1):c.7G>T (p.Ala3Ser)	TPM1 (A3S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Y	GUncertain significance
Select item 2107684	NM_001018005.2(TPM1):c.8C>T (p.Ala3Val)	TPM1 (A3V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074141	NM_001018005.2(TPM1):c.9C>T (p.Ala3=)	TPM1	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 181675	NM_001018005.2(TPM1):c.10A>G (p.Ile4Val)	TPM1 (I4V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 504964	NM_001018005.2(TPM1):c.14AGA[4] (p.Lys7dup)	TPM1	Microsatellite (inframe_insertion)	not specified	GUncertain significance
Select item 181682	NM_001018005.2(TPM1):c.14AGA[2] (p.Lys7del)	TPM1 (K7del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 1629753	NM_001018005.2(TPM1):c.15G>A (p.Lys5=)	TPM1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 636534	NM_001018005.2(TPM1):c.17A>G (p.Lys6Arg)	TPM1 (K6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 923038	NM_001018005.2(TPM1):c.20_26dup (p.Met10fs)	TPM1 (M10fs)	Duplication (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 1574785	NM_001018005.2(TPM1):c.21G>A (p.Lys7=)	TPM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2849500	NM_001018005.2(TPM1):c.22A>G (p.Met8Val)	TPM1 (M8V)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1790722	NM_001018005.2(TPM1):c.23T>C (p.Met8Thr)	TPM1 (M8T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1005318	NM_001018005.2(TPM1):c.23T>A (p.Met8Lys)	TPM1 (M8K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 43406	NM_001018005.2(TPM1):c.23T>G (p.Met8Arg)	TPM1 (M8R)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2853533	NM_001018005.2(TPM1):c.24_25delinsAA (p.Met8_Gln9delinsIleLys)	TPM1	Indel (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2691401	NM_001018005.2(TPM1):c.25C>T (p.Gln9Ter)	TPM1 (Q9*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 181676	NM_001018005.2(TPM1):c.25C>A (p.Gln9Lys)	TPM1 (Q9K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 941975	NM_001018005.2(TPM1):c.26A>G (p.Gln9Arg)	TPM1 (Q9R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 451106	NM_001018005.2(TPM1):c.26A>T (p.Gln9Leu)	TPM1 (Q9L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 43410	NM_001018005.2(TPM1):c.27G>A (p.Gln9=)	TPM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 2046188	NM_001018005.2(TPM1):c.30G>A (p.Met10Ile)	TPM1 (M10I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 511966	NM_001018005.2(TPM1):c.31C>T (p.Leu11=)	TPM1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 1731048	NM_001018005.2(TPM1):c.33G>C (p.Leu11=)	TPM1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 919102	NM_001018005.2(TPM1):c.34A>T (p.Lys12Ter)	TPM1 (K12*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GUncertain significance
Select item 3074310	NM_001018005.2(TPM1):c.36G>A (p.Lys12=)	TPM1	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 757856	NM_001018005.2(TPM1):c.39C>G (p.Leu13=)	TPM1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 234774	NM_001018005.2(TPM1):c.40G>T (p.Asp14Tyr)	TPM1 (D14Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2839372	NM_001018005.2(TPM1):c.43A>G (p.Lys15Glu)	TPM1 (K15E)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 222843	NM_001018005.2(TPM1):c.44A>G (p.Lys15Arg)	TPM1 (K15R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Y +1 more	GUncertain significance
Select item 978363	NM_001018005.2(TPM1):c.45G>A (p.Lys15=)	TPM1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 31892	NM_001018005.2(TPM1):c.45G>T (p.Lys15Asn)	TPM1 (K15N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1450703	NM_001018005.2(TPM1):c.46G>A (p.Glu16Lys)	TPM1 (E16K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 177702	NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln)	TPM1 (E16Q)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1743965	NM_001018005.2(TPM1):c.48G>A (p.Glu16=)	TPM1	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +1 more	GLikely benign
Select item 1744654	NM_001018005.2(TPM1):c.49A>C (p.Asn17His)	TPM1 (N17H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3072548	NM_001018005.2(TPM1):c.51C>A (p.Asn17Lys)	TPM1 (N17K)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1102187	NM_001018005.2(TPM1):c.51C>T (p.Asn17=)	TPM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 238212	NM_001018005.2(TPM1):c.51C>G (p.Asn17Lys)	TPM1 (N17K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2850868	NM_001018005.2(TPM1):c.52G>A (p.Ala18Thr)	TPM1 (A18T)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 1502561	NM_001018005.2(TPM1):c.53C>A (p.Ala18Asp)	TPM1 (A18D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 848043	NM_001018005.2(TPM1):c.53C>T (p.Ala18Val)	TPM1 (A18V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2586916	NM_001018005.2(TPM1):c.57G>T (p.Leu19Phe)	TPM1 (L19F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 177900	NM_001018005.2(TPM1):c.58G>A (p.Asp20Asn)	TPM1 (D20N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 181656	NM_001018005.2(TPM1):c.61C>A (p.Arg21=)	TPM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GBenign/Likely benign
Select item 31900	NM_001018005.2(TPM1):c.61= (p.Arg21=)	TPM1	Single nucleotide variant (no sequence alteration)	not provided	Gnot provided
Select item 181678	NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)	TPM1 (R21L)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 43432	NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr)	TPM1 (A22T)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1388976	NM_001018005.2(TPM1):c.65C>T (p.Ala22Val)	TPM1 (A22V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 923456	NM_001018005.2(TPM1):c.65C>G (p.Ala22Gly)	TPM1 (A22G)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 3232362	NM_001018005.2(TPM1):c.67G>A (p.Glu23Lys)	TPM1 (E23K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 31893	NM_001018005.2(TPM1):c.67G>C (p.Glu23Gln)	TPM1 (E23Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1487618	NM_001018005.2(TPM1):c.68A>C (p.Glu23Ala)	TPM1 (E23A)	Single nucleotide variant (missense variant)	Familial cardiomyopathy +1 more	GUncertain significance
Select item 235067	NM_001018005.2(TPM1):c.69G>C (p.Glu23Asp)	TPM1 (E23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1954809	NM_001018005.2(TPM1):c.70C>T (p.Gln24Ter)	TPM1 (Q24*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1503985	NM_001018005.2(TPM1):c.74C>T (p.Ala25Val)	TPM1 (A25V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 926339	NM_001018005.2(TPM1):c.75G>A (p.Ala25=)	TPM1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 923692	NM_001018005.2(TPM1):c.75G>T (p.Ala25=)	TPM1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 1345236	NM_001018005.2(TPM1):c.76G>A (p.Glu26Lys)	TPM1 (E26K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 180557	NM_001018005.2(TPM1):c.77A>G (p.Glu26Gly)	TPM1 (E26G)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 3073021	NM_001018005.2(TPM1):c.78G>A (p.Glu26=)	TPM1	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2774660	NM_001018005.2(TPM1):c.79G>A (p.Ala27Thr)	TPM1 (A27T)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 1697987	NM_001018005.2(TPM1):c.82G>T (p.Asp28Tyr)	TPM1 (D28Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 43444	NM_001018005.2(TPM1):c.82G>C (p.Asp28His)	TPM1 (D28H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 21 +5 more	GUncertain significance

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