Related gene-specific medical variations for Gene (Select 85441) - ClinVar - NCBI

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2604111	NM_001037335.2(HELZ2):c.1538G>T (p.Arg513Leu)	HELZ2, LOC130066369 (R513L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2597138	NM_001037335.2(HELZ2):c.4505G>A (p.Arg1502Gln)	HELZ2, LOC132090597 (R1502Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2536176	NM_001037335.2(HELZ2):c.1606C>T (p.Arg536Cys)	HELZ2, LOC130066368 (R536C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529328	NM_001037335.2(HELZ2):c.1541G>A (p.Arg514His)	HELZ2, LOC130066369 (R514H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455101	NM_001037335.2(HELZ2):c.2065C>T (p.Arg689Cys)	HELZ2, LOC130066365 (R689C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348506	NM_001037335.2(HELZ2):c.2054C>T (p.Ser685Leu)	HELZ2, LOC130066365 (S116L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325385	NM_001037335.2(HELZ2):c.4559C>T (p.Ala1520Val)	HELZ2, LOC132090597 (A1520V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255332	NM_001037335.2(HELZ2):c.4466C>G (p.Ala1489Gly)	HELZ2, LOC132090597 (A920G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240365	NM_001037335.2(HELZ2):c.4481G>A (p.Arg1494Gln)	HELZ2, LOC132090597 (R1494Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227679	NM_001037335.2(HELZ2):c.2051C>A (p.Ala684Asp)	HELZ2, LOC130066365 (A115D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance