"Ambry Genetics"[submitter] AND "PIH1D2"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2474034	NM_001931.5(DLAT):c.1588C>A (p.His530Asn)	PIH1D2, DLAT (H389N +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1661511	NM_001931.5(DLAT):c.1735A>G (p.Ile579Val)	DLAT, PIH1D2 (I579V +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2589372	NM_001931.5(DLAT):c.1774G>A (p.Ala592Thr)	DLAT, PIH1D2 (A487T +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342392	NM_001931.5(DLAT):c.1840G>T (p.Val614Phe)	PIH1D2, DLAT (V572F +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330340	NM_001931.5(DLAT):c.1861C>T (p.Arg621Trp)	PIH1D2, DLAT (R467W +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370297	NM_001931.5(DLAT):c.*1661G>A	DLAT, PIH1D2 (A280V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2266646	NM_138789.4(PIH1D2):c.712A>C (p.Lys238Gln)	PIH1D2 (K238Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290404	NM_138789.4(PIH1D2):c.690G>A (p.Met230Ile)	PIH1D2 (M230I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2404611	NM_138789.4(PIH1D2):c.641C>T (p.Ala214Val)	PIH1D2 (A214V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393036	NM_138789.4(PIH1D2):c.635G>C (p.Gly212Ala)	PIH1D2 (G212A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316045	NM_138789.4(PIH1D2):c.611T>C (p.Leu204Ser)	PIH1D2 (L204S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353765	NM_138789.4(PIH1D2):c.593A>G (p.Asp198Gly)	PIH1D2 (D198G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456134	NM_138789.4(PIH1D2):c.473G>C (p.Ser158Thr)	PIH1D2 (S158T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250326	NM_138789.4(PIH1D2):c.73A>C (p.Ser25Arg)	PIH1D2 (S25R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance