Related gene-specific medical variations for Gene (Select 57538) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3227455	NM_020778.5(ALPK3):c.1638C>G (p.His546Gln)	ALPK3, LOC111718493 (H546Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227453	NM_020778.5(ALPK3):c.1608G>A (p.Arg536=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227452	NM_020778.5(ALPK3):c.1582C>A (p.Pro528Thr)	ALPK3, LOC111718493 (P528T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3065778	NM_020778.5(ALPK3):c.775C>T (p.Gln259Ter)	ALPK3 (Q259*)	Single nucleotide variant (nonsense)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 3065295	NM_020778.5(ALPK3):c.4144G>T (p.Glu1382Ter)	ALPK3 (E1382*)	Single nucleotide variant (nonsense)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 3010567	NM_020778.5(ALPK3):c.1502C>T (p.Ser501Phe)	ALPK3, LOC111718493 (S501F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002557	NM_020778.5(ALPK3):c.1617G>A (p.Thr539=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984911	NM_020778.5(ALPK3):c.1613G>C (p.Ser538Thr)	ALPK3, LOC111718493 (S538T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850296	NM_020778.5(ALPK3):c.1561T>G (p.Ser521Ala)	ALPK3, LOC111718493 (S521A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833083	NM_020778.5(ALPK3):c.1484A>G (p.Asp495Gly)	ALPK3, LOC111718493 (D495G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812289	NM_020778.5(ALPK3):c.1653+1G>T	ALPK3, LOC111718493	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2791717	NM_020778.5(ALPK3):c.1591C>G (p.Arg531Gly)	ALPK3, LOC111718493 (R531G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770126	NM_020778.5(ALPK3):c.1550_1553dup (p.Gln519fs)	ALPK3, LOC111718493 (Q519fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2753162	NM_020778.5(ALPK3):c.1498dup (p.Ser500fs)	LOC111718493, ALPK3 (S500fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2704940	NM_020778.5(ALPK3):c.1512A>G (p.Gln504=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2625923	NM_020778.4:c.1178_1179insALU	ALPK3	Insertion	Cardiovascular phenotype	GLikely pathogenic
Select item 2625905	NM_020778.5(ALPK3):c.1598A>T (p.His533Leu)	ALPK3, LOC111718493 (H533L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2624480	NM_020778.5(ALPK3):c.1573C>G (p.Pro525Ala)	ALPK3, LOC111718493 (P525A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2581694	NM_020778.5(ALPK3):c.1642_1645dup (p.Pro549fs)	ALPK3, LOC111718493 (P549fs)	Duplication (frameshift variant)	Cardiomyopathy	GPathogenic
Select item 2573096	NM_020778.5(ALPK3):c.432_435dup (p.Asp146fs)	ALPK3 (D146fs)	Duplication (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 2563959	NM_020778.5(ALPK3):c.1492C>T (p.Pro498Ser)	ALPK3, LOC111718493 (P498S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2449102	NM_020778.5(ALPK3):c.1632A>G (p.Ala544=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2449094	NM_020778.5(ALPK3):c.1528G>T (p.Ala510Ser)	ALPK3, LOC111718493 (A510S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2441228	NM_020778.5(ALPK3):c.182+1G>T	ALPK3	Single nucleotide variant (splice donor variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 2439002	NM_020778.5(ALPK3):c.2198G>A (p.Gly733Asp)	ALPK3 (G733D)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27	GUncertain significance
Select item 2439001	NM_020778.5(ALPK3):c.3748G>A (p.Glu1250Lys)	ALPK3 (E1250K)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27	GUncertain significance
Select item 2428548	NM_020778.5(ALPK3):c.1126C>T (p.Arg376Trp)	ALPK3 (R376W)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27	GUncertain significance
Select item 2317823	NM_020778.5(ALPK3):c.1544A>G (p.Lys515Arg)	ALPK3, LOC111718493 (K515R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2097217	NM_020778.5(ALPK3):c.1485C>T (p.Asp495=)	LOC111718493, ALPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094687	NM_020778.5(ALPK3):c.1603A>C (p.Thr535Pro)	ALPK3, LOC111718493 (T535P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078328	NM_020778.5(ALPK3):c.1568A>G (p.Gln523Arg)	ALPK3, LOC111718493 (Q523R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000901	NM_020778.5(ALPK3):c.1552C>A (p.Pro518Thr)	ALPK3, LOC111718493 (P518T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995969	NM_020778.5(ALPK3):c.1584T>G (p.Pro528=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962670	NM_020778.5(ALPK3):c.1504_1505delinsTC (p.Leu502Ser)	ALPK3, LOC111718493 (L502S)	Indel (missense variant)	not provided	GUncertain significance
Select item 1961822	NM_020778.5(ALPK3):c.1573C>A (p.Pro525Thr)	ALPK3, LOC111718493 (P525T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955888	NM_020778.5(ALPK3):c.1646C>T (p.Pro549Leu)	ALPK3, LOC111718493 (P549L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940675	NM_020778.5(ALPK3):c.1653+6T>G	ALPK3, LOC111718493	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1938441	NM_020778.5(ALPK3):c.1575G>A (p.Pro525=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933866	NM_020778.5(ALPK3):c.1525G>T (p.Gly509Trp)	ALPK3, LOC111718493 (G509W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900578	NM_020778.5(ALPK3):c.1607G>A (p.Arg536Gln)	ALPK3, LOC111718493 (R536Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805404	NM_020778.5(ALPK3):c.1582C>T (p.Pro528Ser)	ALPK3, LOC111718493 (P528S)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27	GUncertain significance
Select item 1801823	NM_020778.5(ALPK3):c.926_927del (p.Lys309fs)	ALPK3 (K309fs)	Deletion (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 1788564	NM_020778.5(ALPK3):c.1653G>C (p.Glu551Asp)	ALPK3, LOC111718493 (E551D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1788229	NM_020778.5(ALPK3):c.1633G>A (p.Gly545Ser)	ALPK3, LOC111718493 (G545S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1788170	NM_020778.5(ALPK3):c.1629A>G (p.Gln543=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1787764	NM_020778.5(ALPK3):c.1604C>T (p.Thr535Ile)	ALPK3, LOC111718493 (T535I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1787692	NM_020778.5(ALPK3):c.1600G>A (p.Gly534Ser)	ALPK3, LOC111718493 (G534S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1787477	NM_020778.5(ALPK3):c.1589G>T (p.Arg530Leu)	ALPK3, LOC111718493 (R530L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1787307	NM_020778.5(ALPK3):c.1578G>A (p.Thr526=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1787041	NM_020778.5(ALPK3):c.1563T>C (p.Ser521=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1786413	NM_020778.5(ALPK3):c.1525G>A (p.Gly509Arg)	ALPK3, LOC111718493 (G509R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1786157	NM_020778.5(ALPK3):c.1508G>A (p.Ser503Asn)	ALPK3, LOC111718493 (S503N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1786131	NM_020778.5(ALPK3):c.1506G>A (p.Leu502=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1786103	NM_020778.5(ALPK3):c.1504C>T (p.Leu502=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1662920	NM_020778.5(ALPK3):c.1626G>T (p.Gly542=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585281	NM_020778.5(ALPK3):c.1524C>T (p.Cys508=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1536119	NM_020778.5(ALPK3):c.1606C>A (p.Arg536=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1523157	NM_020778.5(ALPK3):c.1541G>A (p.Gly514Glu)	ALPK3, LOC111718493 (G514E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522083	NM_020778.5(ALPK3):c.1493C>T (p.Pro498Leu)	ALPK3, LOC111718493 (P498L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518743	NM_020778.5(ALPK3):c.1513G>A (p.Ala505Thr)	ALPK3, LOC111718493 (A505T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1515310	NM_020778.5(ALPK3):c.1562C>G (p.Ser521Cys)	ALPK3, LOC111718493 (S521C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1505030	NM_020778.5(ALPK3):c.1594A>G (p.Arg532Gly)	ALPK3, LOC111718493 (R532G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1481835	NM_020778.5(ALPK3):c.1592G>A (p.Arg531Gln)	ALPK3, LOC111718493 (R531Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475900	NM_020778.5(ALPK3):c.1612A>T (p.Ser538Cys)	ALPK3, LOC111718493 (S538C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466852	NM_020778.5(ALPK3):c.1627C>A (p.Gln543Lys)	LOC111718493, ALPK3 (Q543K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1455715	NM_020778.5(ALPK3):c.1626del (p.Gln543fs)	ALPK3, LOC111718493 (Q543fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1450540	NM_020778.5(ALPK3):c.1591C>T (p.Arg531Trp)	ALPK3, LOC111718493 (R531W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1447742	NM_020778.5(ALPK3):c.1616C>T (p.Thr539Met)	ALPK3, LOC111718493 (T539M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1436336	NM_020778.5(ALPK3):c.1606C>T (p.Arg536Trp)	ALPK3, LOC111718493 (R536W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430152	NM_020778.5(ALPK3):c.1535G>T (p.Ser512Ile)	ALPK3, LOC111718493 (S512I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380989	NM_020778.5(ALPK3):c.1486A>G (p.Ser496Gly)	ALPK3, LOC111718493 (S496G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378886	NM_020778.5(ALPK3):c.1574C>T (p.Pro525Leu)	ALPK3, LOC111718493 (P525L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1377443	NM_020778.5(ALPK3):c.1624G>A (p.Gly542Arg)	ALPK3, LOC111718493 (G542R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369833	NM_020778.5(ALPK3):c.1502C>A (p.Ser501Tyr)	ALPK3, LOC111718493 (S501Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349658	NM_020778.5(ALPK3):c.1564G>A (p.Val522Met)	ALPK3, LOC111718493 (V522M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328085	NM_020778.5(ALPK3):c.1589G>A (p.Arg530Gln)	LOC111718493, ALPK3 (R530Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1323072	NM_020778.5(ALPK3):c.2471delinsTCATT (p.Ser824fs)	ALPK3 (S824fs)	Indel (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GPathogenic
Select item 1299516	NM_020778.5(ALPK3):c.1501del (p.Ser501fs)	ALPK3, LOC111718493 (S501fs)	Deletion (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 1206975	NM_020778.5(ALPK3):c.1588C>T (p.Arg530Trp)	LOC111718493, ALPK3 (R530W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1201837	NM_020778.5(ALPK3):c.1586C>T (p.Ala529Val)	ALPK3, LOC111718493 (A529V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1193081	NM_020778.5(ALPK3):c.1598A>G (p.His533Arg)	ALPK3, LOC111718493 (H533R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 683073	NM_020778.5(ALPK3):c.1653+268A>G	ALPK3, LOC111718493	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 636429	NM_020778.5(ALPK3):c.3640_3643dup (p.Pro1215fs)	ALPK3 (P1215fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 389639	NM_020778.5(ALPK3):c.1522T>G (p.Cys508Gly)	ALPK3, LOC111718493 (C710G +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign

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Items: 84