ERO1B[gene] and "single gene"[properties] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 777106	NM_019891.4(ERO1B):c.1396A>G (p.Ser466Gly)	ERO1B (S466G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3090344	NM_019891.4(ERO1B):c.1377T>A (p.Phe459Leu)	ERO1B (F459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273560	NM_019891.4(ERO1B):c.1357A>G (p.Ile453Val)	ERO1B (I453V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364402	NM_019891.4(ERO1B):c.1313A>G (p.Glu438Gly)	ERO1B (E438G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276418	NM_019891.4(ERO1B):c.1247C>A (p.Ser416Tyr)	ERO1B (S416Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524648	NM_019891.4(ERO1B):c.1243T>C (p.Phe415Leu)	ERO1B (F415L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348075	NM_019891.4(ERO1B):c.1232T>A (p.Leu411Gln)	ERO1B (L411Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608334	NM_019891.4(ERO1B):c.1094G>A (p.Gly365Asp)	ERO1B (G365D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601564	NM_019891.4(ERO1B):c.1025T>G (p.Leu342Arg)	ERO1B (L342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272388	NM_019891.4(ERO1B):c.1015A>G (p.Thr339Ala)	ERO1B (T339A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090343	NM_019891.4(ERO1B):c.1010C>T (p.Ala337Val)	ERO1B (A337V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496079	NM_019891.4(ERO1B):c.988A>G (p.Thr330Ala)	ERO1B (T330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345580	NM_019891.4(ERO1B):c.973A>G (p.Ile325Val)	ERO1B (I325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276416	NM_019891.4(ERO1B):c.929A>C (p.Glu310Ala)	ERO1B (E310A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313188	NM_019891.4(ERO1B):c.857G>A (p.Arg286His)	ERO1B (R286H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292437	NM_019891.4(ERO1B):c.849C>G (p.Phe283Leu)	ERO1B (F283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090350	NM_019891.4(ERO1B):c.755G>A (p.Gly252Glu)	ERO1B (G252E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526258	NM_019891.4(ERO1B):c.748A>G (p.Ile250Val)	ERO1B (I250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090349	NM_019891.4(ERO1B):c.676G>A (p.Glu226Lys)	ERO1B (E226K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 988890	NM_019891.4(ERO1B):c.662C>T (p.Ala221Val)	ERO1B (A221V)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 2557248	NM_019891.4(ERO1B):c.482G>A (p.Arg161Gln)	ERO1B (R161Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2609857	NM_019891.4(ERO1B):c.415A>G (p.Ile139Val)	ERO1B (I139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479244	NM_019891.4(ERO1B):c.404A>C (p.Lys135Thr)	ERO1B (K135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090347	NM_019891.4(ERO1B):c.368A>G (p.Asn123Ser)	ERO1B (N123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380580	NM_019891.4(ERO1B):c.296C>G (p.Pro99Arg)	ERO1B (P99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090345	NM_019891.4(ERO1B):c.267C>G (p.His89Gln)	ERO1B (H89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280666	NM_019891.4(ERO1B):c.206A>G (p.Tyr69Cys)	ERO1B (Y69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640103	NM_019891.4(ERO1B):c.189A>C (p.Lys63Asn)	ERO1B (K63N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2588326	NM_019891.4(ERO1B):c.187A>C (p.Lys63Gln)	ERO1B (K63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394360	NM_019891.4(ERO1B):c.152A>G (p.Asn51Ser)	ERO1B (N51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456089	NM_019891.4(ERO1B):c.137T>C (p.Ile46Thr)	ERO1B (I46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336775	NM_019891.4(ERO1B):c.97G>A (p.Ala33Thr)	ERO1B (A33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513812	NM_019891.4(ERO1B):c.95A>T (p.Glu32Val)	ERO1B (E32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531808	NM_019891.4(ERO1B):c.86G>A (p.Ser29Asn)	ERO1B (S29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979943	GRCh37/hg19 1q42.3(chr1:236395360-236533247)x1	ERO1B	Copy number loss	not provided	GUncertain significance

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Items: 35