"Ambry Genetics"[submitter] AND "LOC111718493"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2563959	NM_020778.5(ALPK3):c.1492C>T (p.Pro498Ser)	ALPK3, LOC111718493 (P498S)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +1 more	GUncertain significance
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 1786131	NM_020778.5(ALPK3):c.1506G>A (p.Leu502=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 389639	NM_020778.5(ALPK3):c.1522T>G (p.Cys508Gly)	ALPK3, LOC111718493 (C710G +1 more)	Single nucleotide variant (missense variant)	ALPK3-related condition +4 more	GBenign/Likely benign
Select item 1585281	NM_020778.5(ALPK3):c.1524C>T (p.Cys508=)	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 2449094	NM_020778.5(ALPK3):c.1528G>T (p.Ala510Ser)	ALPK3, LOC111718493 (A510S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2317823	NM_020778.5(ALPK3):c.1544A>G (p.Lys515Arg)	ALPK3, LOC111718493 (K515R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1787041	NM_020778.5(ALPK3):c.1563T>C (p.Ser521=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 1787307	NM_020778.5(ALPK3):c.1578G>A (p.Thr526=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1206975	NM_020778.5(ALPK3):c.1588C>T (p.Arg530Trp)	ALPK3, LOC111718493 (R530W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 1328085	NM_020778.5(ALPK3):c.1589G>A (p.Arg530Gln)	ALPK3, LOC111718493 (R530Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 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 2625905	NM_020778.5(ALPK3):c.1598A>T (p.His533Leu)	ALPK3, LOC111718493 (H533L)	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)	not provided +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 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 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 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 1447742	NM_020778.5(ALPK3):c.1616C>T (p.Thr539Met)	ALPK3, LOC111718493 (T539M)	Single nucleotide variant (missense variant)	not provided +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 2449102	NM_020778.5(ALPK3):c.1632A>G (p.Ala544=)	ALPK3, LOC111718493	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1788564	NM_020778.5(ALPK3):c.1653G>C (p.Glu551Asp)	ALPK3, LOC111718493 (E551D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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Items: 31