54795[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1729

<< First< Prev

Page of 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 1696724	Single allele	HRC, LOC130064904 +2 more	Duplication	not provided	GUncertain significance
Select item 2582780	Single allele	HRC, LOC130064904 +2 more	Deletion	PPFIA3-related disorder	GLikely pathogenic
Select item 369288	NC_000019.10:g.49154455ATC[13]	HRC, TRPM4 (D261del)	Microsatellite (inframe_deletion)	Progressive familial heart block	GLikely benign
Select item 672765	NM_017636.3(TRPM4):c.-262C>T	TRPM4	Single nucleotide variant	not provided	GLikely benign
Select item 674827	NM_017636.3(TRPM4):c.-235A>G	TRPM4	Single nucleotide variant	not provided	GBenign
Select item 329838	NM_017636.3(TRPM4):c.-107G>T	TRPM4	Single nucleotide variant	Progressive familial heart block +1 more	GConflicting classifications of pathogenicity
Select item 468923	Single allele	TRPM4	Duplication	Progressive familial heart block type IB	GUncertain significance
Select item 260834	NM_017636.4(TRPM4):c.-12G>A	TRPM4	Single nucleotide variant (5 prime UTR variant)	Progressive familial heart block type IB +2 more	GBenign
Select item 2625624	NM_017636.4(TRPM4):c.1A>C (p.Met1Leu)	TRPM4 (M1L)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 894213	NM_017636.4(TRPM4):c.1A>G (p.Met1Val)	TRPM4 (M1V)	Single nucleotide variant (missense variant +2 more)	Progressive familial heart block type IB	GUncertain significance
Select item 2174588	NM_017636.4(TRPM4):c.2T>C (p.Met1Thr)	TRPM4 (M1T)	Single nucleotide variant (missense variant +2 more)	Progressive familial heart block type IB	GUncertain significance
Select item 2625621	NM_017636.4(TRPM4):c.3G>C (p.Met1Ile)	TRPM4 (M1I)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1756626	NM_017636.4(TRPM4):c.6G>T (p.Val2=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1447130	NM_017636.4(TRPM4):c.8T>C (p.Val3Ala)	TRPM4 (V3A)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 1525658	NM_017636.4(TRPM4):c.10C>T (p.Pro4Ser)	TRPM4 (P4S)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 577534	NM_017636.4(TRPM4):c.11C>G (p.Pro4Arg)	TRPM4 (P4R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2983981	NM_017636.4(TRPM4):c.12G>T (p.Pro4=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	Progressive familial heart block type IB	GLikely benign
Select item 1769371	NM_017636.4(TRPM4):c.12G>C (p.Pro4=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 509958	NM_017636.4(TRPM4):c.12G>A (p.Pro4=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1010284	NM_017636.4(TRPM4):c.13G>A (p.Glu5Lys)	TRPM4 (E5K)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB +1 more	GUncertain significance
Select item 2851222	NM_017636.4(TRPM4):c.14A>C (p.Glu5Ala)	TRPM4 (E5A)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 2563509	NM_017636.4(TRPM4):c.18G>C (p.Lys6Asn)	TRPM4 (K6N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1093988	NM_017636.4(TRPM4):c.18G>A (p.Lys6=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	Progressive familial heart block type IB +1 more	GLikely benign
Select item 3770	NM_017636.4(TRPM4):c.19G>A (p.Glu7Lys)	TRPM4 (E7K)	Single nucleotide variant (missense variant +1 more)	TRPM4-related disorder	GLikely pathogenic
Select item 387522	NM_017636.4(TRPM4):c.23A>T (p.Gln8Leu)	TRPM4 (Q8L)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB +2 more	GUncertain significance
Select item 1503929	NM_017636.4(TRPM4):c.24G>A (p.Gln8=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	Erythrokeratodermia variabilis et progressiva 6 +1 more	GUncertain significance
Select item 658526	NM_017636.4(TRPM4):c.24+5G>A	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GUncertain significance
Select item 389832	NM_017636.4(TRPM4):c.24+6C>G	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB +1 more	GConflicting classifications of pathogenicity
Select item 518014	NM_017636.4(TRPM4):c.24+7G>A	TRPM4	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2733408	NM_017636.4(TRPM4):c.24+10G>C	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GLikely benign
Select item 1595093	NM_017636.4(TRPM4):c.24+10G>A	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GLikely benign
Select item 1626428	NM_017636.4(TRPM4):c.24+15A>G	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GLikely benign
Select item 2119390	NM_017636.4(TRPM4):c.25-14G>T	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GLikely benign
Select item 2917328	NM_017636.4(TRPM4):c.25-13T>C	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GLikely benign
Select item 390948	NM_017636.4(TRPM4):c.25-10C>T	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB +1 more	GLikely benign
Select item 1945584	NM_017636.4(TRPM4):c.25-6C>A	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GLikely benign
Select item 3227017	NM_017636.4(TRPM4):c.25A>G (p.Ser9Gly)	TRPM4 (S9G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2488220	NM_017636.4(TRPM4):c.30G>T (p.Trp10Cys)	TRPM4 (W10C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 837354	NM_017636.4(TRPM4):c.30G>A (p.Trp10Ter)	TRPM4 (W10*)	Single nucleotide variant (nonsense +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 1728778	NM_017636.4(TRPM4):c.31A>G (p.Ile11Val)	TRPM4 (I11V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3368365	NM_017636.4(TRPM4):c.36del (p.Lys13fs)	TRPM4 (K13fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1399523	NM_017636.4(TRPM4):c.38A>G (p.Lys13Arg)	TRPM4 (K13R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1366819	NM_017636.4(TRPM4):c.45C>A (p.Phe15Leu)	TRPM4 (F15L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1362541	NM_017636.4(TRPM4):c.47AGA[2] (p.Lys18del)	TRPM4 (K18del)	Microsatellite (5 prime UTR variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 2150618	NM_017636.4(TRPM4):c.48G>C (p.Lys16Asn)	TRPM4 (K16N)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 3227032	NM_017636.4(TRPM4):c.49A>G (p.Lys17Glu)	TRPM4 (K17E)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2160064	NM_017636.4(TRPM4):c.51_61del (p.Lys17fs)	TRPM4 (K17fs)	Deletion (frameshift variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 2124933	NM_017636.4(TRPM4):c.51G>T (p.Lys17Asn)	TRPM4 (K17N)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 220734	NM_017636.4(TRPM4):c.58T>A (p.Cys20Ser)	TRPM4 (C20S)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 936967	NM_017636.4(TRPM4):c.62C>T (p.Thr21Met)	TRPM4 (T21M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 841018	NM_017636.4(TRPM4):c.65C>T (p.Thr22Met)	TRPM4 (T22M)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 1448144	NM_017636.4(TRPM4):c.69C>G (p.Phe23Leu)	TRPM4 (F23L)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 1577345	NM_017636.4(TRPM4):c.81C>T (p.Ser27=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	Progressive familial heart block type IB +1 more	GLikely benign
Select item 1962894	NM_017636.4(TRPM4):c.83C>T (p.Thr28Ile)	TRPM4 (T28I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2785606	NM_017636.4(TRPM4):c.85G>C (p.Asp29His)	TRPM4 (D29H)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 2132548	NM_017636.4(TRPM4):c.86A>G (p.Asp29Gly)	TRPM4 (D29G)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 2954875	NM_017636.4(TRPM4):c.89C>T (p.Pro30Leu)	TRPM4 (P30L)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block type IB	GUncertain significance
Select item 3227036	NM_017636.4(TRPM4):c.92+3G>A	TRPM4	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2144714	NM_017636.4(TRPM4):c.92+5G>C	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GUncertain significance
Select item 1599837	NM_017636.4(TRPM4):c.92+11C>A	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GBenign
Select item 508027	NM_017636.4(TRPM4):c.92+12G>C	TRPM4	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 329839	NM_017636.4(TRPM4):c.92+12G>A	TRPM4	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2009415	NM_017636.4(TRPM4):c.92+13C>T	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GLikely benign
Select item 680875	NM_017636.4(TRPM4):c.92+17T>C	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB +1 more	GLikely benign
Select item 1269997	NM_017636.4(TRPM4):c.92+31A>G	TRPM4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 674828	NM_017636.4(TRPM4):c.92+66T>C	TRPM4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257787	NM_017636.4(TRPM4):c.92+162G>C	TRPM4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675422	NM_017636.4(TRPM4):c.93-110T>C	TRPM4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2727509	NM_017636.4(TRPM4):c.93-20C>G	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GLikely benign
Select item 468924	NC_000019.10:g.(?_49166021)_(49172128_?)del	TRPM4	Deletion	Progressive familial heart block type IB	GUncertain significance
Select item 516893	NM_017636.4(TRPM4):c.93-18C>T	TRPM4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2151850	NM_017636.4(TRPM4):c.93-17C>T	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GLikely benign
Select item 1629317	NM_017636.4(TRPM4):c.93-13C>T	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GLikely benign
Select item 2742205	NM_017636.4(TRPM4):c.93-10G>A	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GLikely benign
Select item 2786064	NM_017636.4(TRPM4):c.93-7C>T	TRPM4	Single nucleotide variant (intron variant)	Progressive familial heart block type IB	GLikely benign
Select item 1156683	NM_017636.4(TRPM4):c.93-4C>A	TRPM4	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1767173	NM_017636.4(TRPM4):c.94G>A (p.Gly32Arg)	TRPM4 (G32R)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2893595	NM_017636.4(TRPM4):c.96G>A (p.Gly32=)	TRPM4	Single nucleotide variant (synonymous variant +2 more)	Progressive familial heart block type IB	GLikely benign
Select item 1503876	NM_017636.4(TRPM4):c.99C>T (p.Thr33=)	TRPM4	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1927464	NM_017636.4(TRPM4):c.100T>C (p.Leu34=)	TRPM4	Single nucleotide variant (synonymous variant +2 more)	Progressive familial heart block type IB	GLikely benign
Select item 1720650	NM_017636.4(TRPM4):c.101T>G (p.Leu34Trp)	TRPM4 (L34W)	Single nucleotide variant (missense variant +2 more)	Progressive familial heart block type IB	GUncertain significance
Select item 1907207	NM_017636.4(TRPM4):c.107dup (p.Cys37fs)	TRPM4 (C37fs)	Duplication (frameshift variant +2 more)	Progressive familial heart block type IB	GUncertain significance
Select item 2996004	NM_017636.4(TRPM4):c.115C>T (p.Arg39Cys)	TRPM4 (R39C)	Single nucleotide variant (missense variant +2 more)	Progressive familial heart block type IB	GUncertain significance
Select item 2625627	NM_017636.4(TRPM4):c.116G>A (p.Arg39His)	TRPM4 (R39H)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3021839	NM_017636.4(TRPM4):c.117C>G (p.Arg39=)	TRPM4	Single nucleotide variant (synonymous variant +2 more)	Progressive familial heart block type IB	GLikely benign
Select item 1741735	NM_017636.4(TRPM4):c.117C>T (p.Arg39=)	TRPM4	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2960739	NM_017636.4(TRPM4):c.119C>T (p.Pro40Leu)	TRPM4 (P40L)	Single nucleotide variant (missense variant +2 more)	Progressive familial heart block type IB	GUncertain significance
Select item 1516589	NM_017636.4(TRPM4):c.121C>T (p.Arg41Trp)	TRPM4 (R41W)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2625631	NM_017636.4(TRPM4):c.124A>G (p.Thr42Ala)	TRPM4 (T42A)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2867879	NM_017636.4(TRPM4):c.125C>T (p.Thr42Ile)	TRPM4 (T42I)	Single nucleotide variant (missense variant +2 more)	Progressive familial heart block type IB	GUncertain significance
Select item 2975146	NM_017636.4(TRPM4):c.126C>T (p.Thr42=)	TRPM4	Single nucleotide variant (synonymous variant +2 more)	Progressive familial heart block type IB	GLikely benign
Select item 536800	NM_017636.4(TRPM4):c.127G>A (p.Ala43Thr)	TRPM4 (A43T)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 963172	NM_017636.4(TRPM4):c.131A>G (p.His44Arg)	TRPM4 (H44R)	Single nucleotide variant (5 prime UTR variant +2 more)	Progressive familial heart block type IB	GUncertain significance
Select item 2917976	NM_017636.4(TRPM4):c.135C>T (p.Pro45=)	TRPM4	Single nucleotide variant (synonymous variant +2 more)	Progressive familial heart block type IB	GLikely benign
Select item 2782249	NM_017636.4(TRPM4):c.136G>A (p.Ala46Thr)	TRPM4 (A46T)	Single nucleotide variant (missense variant +2 more)	Progressive familial heart block type IB	GUncertain significance
Select item 329840	NM_017636.4(TRPM4):c.136G>T (p.Ala46Ser)	TRPM4 (A46S)	Single nucleotide variant (missense variant +2 more)	Progressive familial heart block type IB	GUncertain significance
Select item 2201926	NM_017636.4(TRPM4):c.144C>T (p.Ala48=)	TRPM4	Single nucleotide variant (synonymous variant +2 more)	Progressive familial heart block type IB +1 more	GLikely benign
Select item 1773113	NM_017636.4(TRPM4):c.145A>C (p.Met49Leu)	TRPM4 (M49L)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance

<< First< Prev

Page of 18