"Ambry Genetics"[submitter] AND "DEFB105A"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3081293	NM_152250.1(DEFB105A):c.200G>T	DEFB105A	Single nucleotide variant	not specified	GUncertain significance
Select item 2386038	NM_152250.3(DEFB105A):c.110C>T (p.Ser37Leu)	DEFB105A (S37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271451	NM_152250.3(DEFB105A):c.79G>A (p.Ala27Thr)	DEFB105A (A27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226458	NM_152250.3(DEFB105A):c.11T>A (p.Ile4Asn)	DEFB105A (I4N)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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