Related gene-specific medical variations for Gene (Select 170680) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059991	NM_014068.3(PSORS1C1):c.70C>A (p.Pro24Thr)	PSORS1C1, PSORS1C2 (P24T)	Single nucleotide variant (missense variant +1 more)	PSORS1C1-related condition	GBenign
Select item 3059976	NM_014068.3(PSORS1C1):c.127C>T (p.Pro43Ser)	PSORS1C1, PSORS1C2 (P43S)	Single nucleotide variant (missense variant +1 more)	PSORS1C1-related condition	GBenign
Select item 3059106	NM_014068.3(PSORS1C1):c.110G>A (p.Arg37His)	PSORS1C1, PSORS1C2 (R37H)	Single nucleotide variant (missense variant +1 more)	PSORS1C1-related condition	GBenign
Select item 3056342	NM_014068.3(PSORS1C1):c.100G>A (p.Glu34Lys)	PSORS1C1, PSORS1C2 (E34K)	Single nucleotide variant (missense variant +1 more)	PSORS1C1-related condition	GBenign
Select item 2618113	NM_014069.3(PSORS1C2):c.221G>A (p.Arg74Lys)	PSORS1C1, PSORS1C2 (R74K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603988	NM_014069.3(PSORS1C2):c.209G>C (p.Ser70Thr)	PSORS1C1, PSORS1C2 (S70T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494361	NM_014069.3(PSORS1C2):c.125C>T (p.Thr42Ile)	PSORS1C1, PSORS1C2 (T42I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483536	NM_014069.3(PSORS1C2):c.376C>T (p.Pro126Ser)	PSORS1C1, PSORS1C2 (P126S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408342	NM_014068.3(PSORS1C1):c.134G>T (p.Arg45Leu)	PSORS1C2, PSORS1C1 (R45L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2351999	NM_014069.3(PSORS1C2):c.166G>A (p.Gly56Arg)	PSORS1C1, PSORS1C2 (G56R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 784067	NM_014068.3(PSORS1C1):c.134G>A (p.Arg45Gln)	PSORS1C1, PSORS1C2 (R45Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 712615	NM_014069.3(PSORS1C2):c.55+326A>G	PSORS1C1, PSORS1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 707910	NM_014069.3(PSORS1C2):c.151G>A (p.Gly51Ser)	PSORS1C1, PSORS1C2 (G51S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign