"Ambry Genetics"[submitter] AND "B9D2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 281470	NM_030578.4(B9D2):c.496C>T (p.Arg166Cys)	B9D2 (R166C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1341710	NM_030578.4(B9D2):c.484G>T (p.Gly162Cys)	B9D2 (G162C)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 2614115	NM_030578.4(B9D2):c.461G>T (p.Gly154Val)	B9D2 (G154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132735	NM_030578.4(B9D2):c.443G>A (p.Arg148His)	B9D2 (R148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292145	NM_030578.4(B9D2):c.428G>C (p.Gly143Ala)	B9D2 (G143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343716	NM_030578.4(B9D2):c.359G>A (p.Arg120Gln)	B9D2 (R120Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1350607	NM_030578.4(B9D2):c.262C>T (p.Arg88Cys)	B9D2 (R88C)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 3132733	NM_030578.4(B9D2):c.164C>A (p.Ala55Asp)	B9D2 (A55D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132732	NM_030578.4(B9D2):c.163G>A (p.Ala55Thr)	B9D2 (A55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536277	NM_030578.4(B9D2):c.157G>C (p.Asp53His)	B9D2 (D53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259597	NM_030578.4(B9D2):c.50C>T (p.Ser17Leu)	B9D2 (S17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132734	NM_030578.4(B9D2):c.32T>C (p.Ile11Thr)	B9D2 (I11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268607	NM_030578.4(B9D2):c.4G>A (p.Ala2Thr)	B9D2 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance