Related gene-specific medical variations for Gene (Select 10130) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360018	NM_005742.4(PDIA6):c.831_840+13del	PDIA6	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 3359752	NM_005742.4(PDIA6):c.567G>A (p.Trp189Ter)	PDIA6 (W186* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3210930	NM_005742.4(PDIA6):c.1219G>A (p.Val407Ile)	ATP6V1C2, PDIA6 (V407I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068107	NM_005742.4(PDIA6):c.286del (p.Gln96fs)	PDIA6 (Q101fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2559827	NM_005742.4(PDIA6):c.1219G>C (p.Val407Leu)	ATP6V1C2, PDIA6 (V404L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409877	NM_005742.4(PDIA6):c.1198G>C (p.Gly400Arg)	ATP6V1C2, PDIA6 (G452R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377973	NM_005742.4(PDIA6):c.1229A>C (p.Glu410Ala)	ATP6V1C2, PDIA6 (E415A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1723893	NM_005742.4(PDIA6):c.702del (p.Arg235fs)	PDIA6 (R232fs +4 more)	Deletion (frameshift variant)	See cases	GLikely pathogenic

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