Related gene-specific medical variations for Gene (Select 28966) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309170	NM_000943.5(PPIC):c.323G>A (p.Gly108Glu)	LOC126807494, PPIC +1 more (G108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217188	NM_000943.5(PPIC):c.634T>G (p.Trp212Gly)	PPIC, SNX24 (W212G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217187	NM_000943.5(PPIC):c.568A>G (p.Asn190Asp)	PPIC, SNX24 (N190D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217186	NM_000943.5(PPIC):c.370C>G (p.Leu124Val)	PPIC, SNX24 (L124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535131	NM_000943.5(PPIC):c.224C>T (p.Thr75Ile)	LOC126807494, PPIC +1 more (T75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397644	NM_000943.5(PPIC):c.555C>A (p.Asp185Glu)	PPIC, SNX24 (D185E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387384	NM_000943.5(PPIC):c.389G>A (p.Gly130Glu)	PPIC, SNX24 (G130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328597	NM_014035.4(SNX24):c.38G>A (p.Ser13Asn)	LOC129994475, SNX24 (S13N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315562	NM_000943.5(PPIC):c.628G>A (p.Ala210Thr)	PPIC, SNX24 (A210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1240005	dup(5)(q23.2q23.2)	LINC02201, LOC101927357 +6 more	Duplication	Lower urinary tract obstruction, congenital	GUncertain significance