"Ambry Genetics"[submitter] AND "YBEY"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3191412	NM_001314025.2(YBEY):c.10G>A (p.Val4Met)	YBEY (V4M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239959	NM_001314025.2(YBEY):c.169A>G (p.Arg57Gly)	YBEY (R57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333624	NM_001314025.2(YBEY):c.245T>G (p.Phe82Cys)	YBEY (F37C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266218	NM_001314025.2(YBEY):c.263T>G (p.Leu88Trp)	YBEY (L88W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353416	NM_001314025.2(YBEY):c.305G>A (p.Cys102Tyr)	YBEY (C102Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368044	NM_001314025.2(YBEY):c.326A>G (p.Asn109Ser)	YBEY (N64S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395643	NM_001314025.2(YBEY):c.331G>C (p.Val111Leu)	YBEY (V111L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191413	NM_001314025.2(YBEY):c.350C>T (p.Thr117Ile)	YBEY (T72I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402436	NM_001314025.2(YBEY):c.414C>G (p.Phe138Leu)	YBEY (F138L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2469710	NM_001314025.2(YBEY):c.427G>A (p.Ala143Thr)	YBEY (A55T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212323	NM_001314025.2(YBEY):c.464G>A (p.Arg155Gln)	YBEY (R112Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224384	NM_058180.5(C21orf58):c.911C>T (p.Pro304Leu)	C21orf58, YBEY (P304L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392524	NM_058180.5(C21orf58):c.853A>G (p.Arg285Gly)	C21orf58, YBEY (R179G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance