57538[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	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153577	GRCh38/hg38 15q25.2-25.3(chr15:84260061-85181753)x1	ALPK3, LINC00933 +42 more	Copy number loss	See cases	GUncertain significance
Select item 154518	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x3	LOC130057805, LOC130057806 +40 more	Copy number gain	See cases	GUncertain significance
Select item 148405	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85157671)x1	ALPK3, LINC00933 +41 more	Copy number loss	See cases	GUncertain significance
Select item 146523	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x1	ALPK3, LINC00933 +40 more	Copy number loss	See cases	GUncertain significance
Select item 57536	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85185613)x1	ALPK3, LINC00933 +42 more	Copy number loss	See cases	GUncertain significance
Select item 560037	Single allele	ALPK3, LINC00933 +39 more	Deletion	not provided	GUncertain significance
Select item 1235797	NC_000015.10:g.84816588dup	ALPK3	Duplication	not provided	GBenign
Select item 1198281	NC_000015.10:g.84816587_84816588dup	ALPK3	Duplication	not provided	GLikely benign
Select item 1210817	NC_000015.10:g.84816588del	ALPK3	Deletion	not provided	GLikely benign
Select item 678475	NM_020778.4(ALPK3):c.-74A>C	ALPK3	Single nucleotide variant	not provided	GBenign
Select item 390931	NM_020778.4(ALPK3):c.-30G>T	ALPK3	Single nucleotide variant	not specified	GLikely benign
Select item 2497228	NM_020778.4(ALPK3):c.-3C>T	ALPK3	Single nucleotide variant	Cardiovascular phenotype	GUncertain significance
Select item 1784181	NM_020778.4(ALPK3):c.-1A>T	ALPK3	Single nucleotide variant	Cardiovascular phenotype	GUncertain significance
Select item 2819201	NC_000015.10:g.84816850G>A	ALPK3 (E2K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342554	NM_020778.4(ALPK3):c.10_14GCTTG[3] (p.Val7Glyfs)	ALPK3	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 429934	NC_000015.10:g.84816855G>A	ALPK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3227443	NM_020778.4(ALPK3):c.12T>A (p.Ala4=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1940263	NC_000015.10:g.84816861G>T	ALPK3 (W5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1787588	NM_020778.4(ALPK3):c.21C>T (p.Val7=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2873787	NC_000015.10:g.84816870_84816871delinsCC	ALPK3 (V9L)	Indel (missense variant)	not provided	GUncertain significance
Select item 382155	NC_000015.10:g.84816870T>C	ALPK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1396035	NC_000015.10:g.84816876G>A	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1713310	NC_000015.10:g.84816881A>G	ALPK3 (Q12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818742	NC_000015.10:g.84816883C>T	ALPK3 (Q13*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2023351	NC_000015.10:g.84816892G>A	ALPK3 (A16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995169	NC_000015.10:g.84816894G>A	ALPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1488610	NC_000015.10:g.84816907G>C	ALPK3	Single nucleotide variant	not provided	GUncertain significance
Select item 1922943	NC_000015.10:g.84816917G>C	ALPK3 (R24P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1757655	NC_000015.10:g.84816917G>A	ALPK3 (R24Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2625925	NM_020778.4(ALPK3):c.72G>A (p.Arg24=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1759745	NM_020778.4(ALPK3):c.75G>T (p.Leu25=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1646964	NC_000015.10:g.84816921G>A	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2984341	NC_000015.10:g.84816922G>A	ALPK3 (V26M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2625920	NM_020778.4(ALPK3):c.79C>T (p.Pro27Ser)	ALPK3 (P27S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1978618	NC_000015.10:g.84816926C>G	ALPK3 (P27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1761992	NM_020778.4(ALPK3):c.80C>T (p.Pro27Leu)	ALPK3 (P27L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1371517	NC_000015.10:g.84816937C>G	ALPK3	Single nucleotide variant	not provided	GUncertain significance
Select item 2563961	NM_020778.4(ALPK3):c.95T>A (p.Val32Asp)	ALPK3 (V32D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1072103	NC_000015.10:g.84816946del	ALPK3	Deletion	not provided	GPathogenic
Select item 2563955	NM_020778.4(ALPK3):c.102G>A (p.Trp34Ter)	ALPK3 (W34*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 1469868	NC_000015.10:g.84816949C>T	ALPK3 (L35F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1216818	NC_000015.10:g.84816951C>T	ALPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1785979	NM_020778.4(ALPK3):c.107C>T (p.Pro36Leu)	ALPK3 (P36L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1794785	NM_020778.4(ALPK3):c.110G>A (p.Gly37Asp)	ALPK3 (G37D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1727846	NC_000015.10:g.84816958C>A	ALPK3 (L38I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1354197	NC_000015.10:g.84816961C>G	ALPK3	Single nucleotide variant	not provided	GUncertain significance
Select item 1477678	NC_000015.10:g.84816962C>T	ALPK3	Single nucleotide variant	not provided	GUncertain significance
Select item 1413270	NC_000015.10:g.84816964C>A	ALPK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2814382	NC_000015.10:g.84816965G>T	ALPK3 (R40L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755607	NC_000015.10:g.84816965G>C	ALPK3 (R40P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1746893	NM_020778.4(ALPK3):c.119G>A (p.Arg40Gln)	ALPK3 (R40Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1641041	NC_000015.10:g.84816966G>T	ALPK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2116787	NC_000015.10:g.84816969T>C	ALPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085908	NC_000015.10:g.84816972C>T	ALPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076381	NC_000015.10:g.84816972C>G	ALPK3 (S42R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1769054	NM_020778.4(ALPK3):c.128C>A (p.Pro43Gln)	ALPK3 (P43Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3013023	NC_000015.10:g.84816976A>G	ALPK3 (S44G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2563945	NM_020778.4(ALPK3):c.130A>T (p.Ser44Cys)	ALPK3 (S44C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1435851	NC_000015.10:g.84816982C>G	ALPK3	Single nucleotide variant	not provided	GUncertain significance
Select item 1982683	NC_000015.10:g.84816983_84816988del	ALPK3	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1372054	NC_000015.10:g.84816986C>A	ALPK3 (A47E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1772224	NM_020778.4(ALPK3):c.141G>A (p.Ala47=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2092767	NC_000015.10:g.84816989T>C	ALPK3 (V48A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982684	NC_000015.10:g.84816990T>A	ALPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1773126	NM_020778.4(ALPK3):c.145G>A (p.Asp49Asn)	ALPK3 (D49N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2709223	NM_020778.4(ALPK3):c.153_161dup (p.Pro55_Ala56insLeuAlaPro)	ALPK3	Duplication (inframe_indel)	not provided	GUncertain significance
Select item 1525735	NC_000015.10:g.84816992A>T	ALPK3 (D49V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1774400	NM_020778.4(ALPK3):c.151G>C (p.Ala51Pro)	ALPK3 (A51P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1442895	NC_000015.10:g.84817000C>T	ALPK3 (P52S)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +2 more	GConflicting classifications of pathogenicity
Select item 1775649	NC_000015.10:g.84817003C>G	ALPK3 (L53V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2869406	NC_000015.10:g.84817008C>T	ALPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699214	NC_000015.10:g.84817010C>A	ALPK3 (P55Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2289743	NC_000015.10:g.84817010C>T	ALPK3 (P55L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1578658	NC_000015.10:g.84817011G>T	ALPK3	Single nucleotide variant	not provided	GLikely benign
Select item 1778716	NM_020778.4(ALPK3):c.171G>A (p.Arg57=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 390217	NM_020778.4(ALPK3):c.173C>T (p.Pro58Leu)	ALPK3	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1779547	NM_020778.4(ALPK3):c.175C>T (p.Arg59Cys)	ALPK3 (R59C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 386372	NC_000015.10:g.84817021C>G	ALPK3	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GBenign
Select item 2174376	NC_000015.10:g.84817022G>T	ALPK3 (R59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1536202	NC_000015.10:g.84817023T>C	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1668326	NC_000015.10:g.84817029C>T	ALPK3	Single nucleotide variant	not provided	GLikely benign
Select item 1561489	NC_000015.10:g.84817029C>A	ALPK3	Single nucleotide variant	not provided	GLikely benign
Select item 2563941	NC_000015.10:g.84817030C>T	ALPK3 (L62F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1781648	NM_020778.4(ALPK3):c.186C>T (p.Leu62=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 726266	NC_000015.10:g.84817038C>A	ALPK3 (C64*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GBenign
Select item 1783184	NM_020778.4(ALPK3):c.194A>T (p.His65Leu)	ALPK3 (H65L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 384680	NC_000015.10:g.84817040A>G	ALPK3	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +3 more	GBenign
Select item 2113741	NC_000015.10:g.84817043C>G	ALPK3 (T66R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520918	NC_000015.10:g.84817044G>A	ALPK3	Single nucleotide variant	not provided	GLikely benign
Select item 1784137	NC_000015.10:g.84817045G>A	ALPK3 (G67R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1520519	NC_000015.10:g.84817045G>C	ALPK3 (G67R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2155215	NC_000015.10:g.84817051G>A	ALPK3 (E69K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932019	NC_000015.10:g.84817051G>C	ALPK3 (E69Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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