"Ambry Genetics"[submitter] AND "YJU2B"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2511076	NM_030818.4(YJU2B):c.133A>G (p.Ile45Val)	YJU2B (I45V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191559	NM_030818.4(YJU2B):c.169G>A (p.Asp57Asn)	YJU2B (D8N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592358	NM_030818.4(YJU2B):c.187A>G (p.Ile63Val)	YJU2B (I14V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191560	NM_030818.4(YJU2B):c.295G>A (p.Glu99Lys)	YJU2B (E50K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191561	NM_030818.4(YJU2B):c.322G>A (p.Asp108Asn)	YJU2B (D108N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191562	NM_030818.4(YJU2B):c.350G>A (p.Arg117His)	YJU2B (R117H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191563	NM_030818.4(YJU2B):c.359A>G (p.Glu120Gly)	YJU2B (E120G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191564	NM_030818.4(YJU2B):c.412A>C (p.Lys138Gln)	YJU2B (K138Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191565	NM_030818.4(YJU2B):c.514G>A (p.Ala172Thr)	YJU2B (A123T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191566	NM_030818.4(YJU2B):c.598G>A (p.Glu200Lys)	YJU2B (E151K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611489	NM_030818.4(YJU2B):c.673C>T (p.Arg225Cys)	YJU2B (R225C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191567	NM_030818.4(YJU2B):c.699C>A (p.Phe233Leu)	YJU2B (F184L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543707	NM_030818.4(YJU2B):c.715T>C (p.Tyr239His)	YJU2B (Y239H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191568	NM_030818.4(YJU2B):c.812T>C (p.Val271Ala)	YJU2B (V222A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191569	NM_030818.4(YJU2B):c.824T>C (p.Leu275Pro)	YJU2B (L130P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191570	NM_030818.4(YJU2B):c.958C>T (p.Arg320Trp)	YJU2B (R320W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191571	NM_030818.4(YJU2B):c.973G>C (p.Ala325Pro)	YJU2B (A276P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191555	NM_030818.4(YJU2B):c.1019C>A (p.Thr340Lys)	YJU2B (T291K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191556	NM_030818.4(YJU2B):c.1067G>A (p.Arg356His)	YJU2B (R211H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191557	NM_030818.4(YJU2B):c.1078C>A (p.Pro360Thr)	YJU2B (P311T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191558	NM_030818.4(YJU2B):c.1172C>A (p.Ser391Tyr)	YJU2B (S391Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 21