ALPK3[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 2461

<< First< Prev

Page of 25

	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	NM_020778.4(ALPK3):c.4G>A (p.Glu2Lys)	ALPK3 (E2K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429934	NM_020778.4(ALPK3):c.9G>A (p.Val3=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +2 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	NM_020778.4(ALPK3):c.15G>T (p.Trp5Cys)	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	NM_020778.4(ALPK3):c.24_25delTGinsCC (p.Val9Leu)	ALPK3 (V9L)	Indel (missense variant)	not provided	GUncertain significance
Select item 382155	NM_020778.4(ALPK3):c.24T>C (p.Tyr8=)	ALPK3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1396035	NM_020778.4(ALPK3):c.30G>A (p.Leu10=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1713310	NM_020778.4(ALPK3):c.35A>G (p.Gln12Arg)	ALPK3 (Q12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818742	NM_020778.4(ALPK3):c.37C>T (p.Gln13Ter)	ALPK3 (Q13*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2023351	NM_020778.4(ALPK3):c.46G>A (p.Ala16Thr)	ALPK3 (A16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995169	NM_020778.4(ALPK3):c.48G>A (p.Ala16=)	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	NM_020778.4(ALPK3):c.71G>C (p.Arg24Pro)	ALPK3 (R24P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1757655	NM_020778.4(ALPK3):c.71G>A (p.Arg24Gln)	ALPK3 (R24Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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	NM_020778.4(ALPK3):c.75G>A (p.Leu25=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2984341	NM_020778.4(ALPK3):c.76G>A (p.Val26Met)	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	NM_020778.4(ALPK3):c.80C>G (p.Pro27Arg)	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	NM_020778.4(ALPK3):c.103C>T (p.Leu35Phe)	ALPK3 (L35F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1216818	NM_020778.4(ALPK3):c.105C>T (p.Leu35=)	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	NM_020778.4(ALPK3):c.112C>A (p.Leu38Ile)	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	NM_020778.4(ALPK3):c.118C>A (p.Arg40=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2814382	NM_020778.4(ALPK3):c.119G>T (p.Arg40Leu)	ALPK3 (R40L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755607	NM_020778.4(ALPK3):c.119G>C (p.Arg40Pro)	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	NM_020778.4(ALPK3):c.120G>T (p.Arg40=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2116787	NM_020778.4(ALPK3):c.123T>C (p.Ser41=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085908	NM_020778.4(ALPK3):c.126C>T (p.Ser42=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076381	NM_020778.4(ALPK3):c.126C>G (p.Ser42Arg)	ALPK3 (S42R)	Single nucleotide variant (missense variant)	not provided +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	NM_020778.4(ALPK3):c.130A>G (p.Ser44Gly)	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	NM_020778.4(ALPK3):c.137_142delCAGCGG (p.Pro46_Val48delinsLeu)	ALPK3	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1372054	NM_020778.4(ALPK3):c.140C>A (p.Ala47Glu)	ALPK3 (A47E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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	NM_020778.4(ALPK3):c.143T>C (p.Val48Ala)	ALPK3 (V48A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982684	NM_020778.4(ALPK3):c.144T>A (p.Val48=)	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	NM_020778.4(ALPK3):c.146A>T (p.Asp49Val)	ALPK3 (D49V)	Single nucleotide variant (missense variant)	not provided +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	NM_020778.4(ALPK3):c.154C>T (p.Pro52Ser)	ALPK3 (P52S)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +2 more	GConflicting classifications of pathogenicity
Select item 1775649	NM_020778.4(ALPK3):c.157C>G (p.Leu53Val)	ALPK3 (L53V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2869406	NM_020778.4(ALPK3):c.162C>T (p.Ala54=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699214	NM_020778.4(ALPK3):c.164C>A (p.Pro55Gln)	ALPK3 (P55Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2289743	NM_020778.4(ALPK3):c.164C>T (p.Pro55Leu)	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	NM_020778.4(ALPK3):c.175C>G (p.Arg59Gly)	ALPK3	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2174376	NM_020778.4(ALPK3):c.176G>T (p.Arg59Leu)	ALPK3 (R59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1536202	NM_020778.4(ALPK3):c.177T>C (p.Arg59=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +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	NM_020778.4(ALPK3):c.184C>T (p.Leu62Phe)	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	NM_020778.4(ALPK3):c.192C>A (p.Cys64Ter)	ALPK3 (C64*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GBenign/Likely benign
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	NM_020778.4(ALPK3):c.194A>G (p.His65Arg)	ALPK3	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +3 more	GBenign
Select item 2113741	NM_020778.4(ALPK3):c.197C>G (p.Thr66Arg)	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	NM_020778.4(ALPK3):c.199G>A (p.Gly67Arg)	ALPK3 (G67R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1520519	NM_020778.4(ALPK3):c.199G>C (p.Gly67Arg)	ALPK3 (G67R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2155215	NM_020778.4(ALPK3):c.205G>A (p.Glu69Lys)	ALPK3 (E69K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932019	NM_020778.4(ALPK3):c.205G>C (p.Glu69Gln)	ALPK3 (E69Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635814	NM_020778.4(ALPK3):c.207G>A (p.Glu69=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

<< First< Prev

Page of 25