"Ambry Genetics"[submitter] AND "DEFB119"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2260335	NM_153289.4(DEFB119):c.185G>A (p.Arg62Lys)	DEFB119 (R62K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240870	NM_153289.4(DEFB119):c.140T>G (p.Leu47Arg)	DEFB119 (L47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081313	NM_153289.4(DEFB119):c.119A>G (p.Lys40Arg)	DEFB119 (K40R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2242005	NM_153289.4(DEFB119):c.109G>A (p.Ala37Thr)	DEFB119 (A37T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381950	NM_153289.4(DEFB119):c.83G>A (p.Cys28Tyr)	DEFB119 (M41I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614126	NM_153289.4(DEFB119):c.80G>A (p.Arg27Gln)	DEFB119 (R27Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373305	NM_153289.4(DEFB119):c.61+1291C>T	DEFB119 (R54C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271460	NM_153289.4(DEFB119):c.61+1262G>A	DEFB119 (R43Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551650	NM_153289.4(DEFB119):c.61+1219C>T	DEFB119 (R29W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance