Related gene-specific medical variations for Gene (Select 608) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3180252	NM_001192.3(TNFRSF17):c.64A>C (p.Ile22Leu)	LOC130058515, NPIPB2 +1 more (I22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180251	NM_001192.3(TNFRSF17):c.494G>T (p.Cys165Phe)	NPIPB2, TNFRSF17 (C165F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180249	NM_001192.3(TNFRSF17):c.463A>G (p.Ile155Val)	NPIPB2, TNFRSF17 (I155V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180248	NM_001192.3(TNFRSF17):c.272A>G (p.Asn91Ser)	NPIPB2, TNFRSF17 (N91S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602106	NM_001192.3(TNFRSF17):c.380C>T (p.Thr127Ile)	NPIPB2, TNFRSF17 (T127I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513227	NM_001192.3(TNFRSF17):c.142T>G (p.Ser48Ala)	NPIPB2, TNFRSF17 (S48A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374590	NM_001192.3(TNFRSF17):c.547G>T (p.Ala183Ser)	NPIPB2, TNFRSF17 (A183S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310235	NM_001192.3(TNFRSF17):c.83G>A (p.Cys28Tyr)	LOC130058515, NPIPB2 +1 more (C28Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224965	NM_001192.3(TNFRSF17):c.103C>A (p.Leu35Ile)	LOC130058515, NPIPB2 +1 more (L35I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 992503	NM_001192.3(TNFRSF17):c.16G>C (p.Gly6Arg)	NPIPB2, TNFRSF17 +1 more (G6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779009	NM_001192.3(TNFRSF17):c.528G>C (p.Glu176Asp)	NPIPB2, TNFRSF17 (E176D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 626032	NM_001192.3(TNFRSF17):c.223T>G (p.Phe75Val)	NPIPB2, TNFRSF17 (F75V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 438792	NM_001192.3(TNFRSF17):c.524C>T (p.Thr175Met)	NPIPB2, TNFRSF17 (T175M)	Single nucleotide variant (missense variant)	Desmoplastic small round cell tumor	Gother