Related gene-specific medical variations for Gene (Select 10490) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2559571	NM_001172.4(ARG2):c.974A>G (p.Gln325Arg)	ARG2, GPHN +1 more (Q325R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549483	NM_001172.4(ARG2):c.956T>C (p.Ile319Thr)	ARG2, GPHN +1 more (I319T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529372	NM_001172.4(ARG2):c.988G>A (p.Gly330Arg)	ARG2, GPHN +1 more (G330R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475838	NM_006370.3(VTI1B):c.490A>G (p.Ile164Val)	GPHN, VTI1B (I164V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405587	NM_001172.4(ARG2):c.1018C>T (p.Pro340Ser)	GPHN, VTI1B +1 more (P340S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400467	NM_006370.3(VTI1B):c.370C>T (p.Arg124Trp)	GPHN, VTI1B (R124W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390468	NM_001172.4(ARG2):c.727C>A (p.Gln243Lys)	ARG2, GPHN +1 more (Q243K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364450	NM_006370.3(VTI1B):c.178G>T (p.Ala60Ser)	GPHN, VTI1B (A60S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343318	NM_006370.3(VTI1B):c.226C>A (p.Pro76Thr)	VTI1B, GPHN (P76T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291364	NM_006370.3(VTI1B):c.604G>T (p.Val202Leu)	GPHN, ARG2 +1 more (V202L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213548	NM_006370.3(VTI1B):c.649C>T (p.Leu217Phe)	VTI1B, GPHN +1 more (L217F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213547	NM_006370.3(VTI1B):c.373C>A (p.Leu125Ile)	VTI1B, GPHN (L125I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205748	NM_006370.3(VTI1B):c.391A>G (p.Met131Val)	VTI1B, GPHN (M131V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770240	NM_006370.3(VTI1B):c.174+10A>G	GPHN, VTI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770239	NM_001172.4(ARG2):c.924G>A (p.Ala308=)	ARG2, GPHN +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 768659	NM_006370.3(VTI1B):c.102G>A (p.Gly34=)	GPHN, LOC130055904 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign