Related gene-specific medical variations for Gene (Select 126863123) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3013851	NM_001326411.2(PISD):c.53C>T (p.Pro18Leu)	LOC126863123, PISD (P18L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2787851	NM_001326411.2(PISD):c.16G>A (p.Gly6Arg)	LOC126863123, PISD (G6R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2189051	NM_001326411.2(PISD):c.32G>C (p.Gly11Ala)	LOC126863123, PISD (G11A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2111347	NM_001326411.2(PISD):c.65+13G>A	LOC126863123, PISD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988569	NM_001326411.2(PISD):c.49G>A (p.Ala17Thr)	LOC126863123, PISD (A17T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1941669	NM_001326411.2(PISD):c.48C>T (p.Val16=)	LOC126863123, PISD	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1897700	NM_001326411.2(PISD):c.43G>A (p.Gly15Arg)	LOC126863123, PISD (G15R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1633376	NM_001326411.2(PISD):c.42C>T (p.His14=)	LOC126863123, PISD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1564905	NM_001326411.2(PISD):c.28C>T (p.Leu10=)	LOC126863123, PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1503618	NM_001326411.2(PISD):c.65+6G>A	LOC126863123, PISD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1422024	NM_001326411.2(PISD):c.65G>T (p.Ser22Ile)	LOC126863123, PISD (S22I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1392657	NM_001326411.2(PISD):c.10T>C (p.Ser4Pro)	LOC126863123, PISD (S4P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1380894	NM_001326411.2(PISD):c.23G>C (p.Arg8Pro)	LOC126863123, PISD (R8P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance