DEFB128[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2236103	NM_001037732.3(DEFB128):c.213T>G (p.His71Gln)	DEFB128 (H71Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3057209	NM_001037732.3(DEFB128):c.183dup (p.His62fs)	DEFB128 (H62fs)	Duplication (frameshift variant)	DEFB128-related disorder	GLikely benign
Select item 2305450	NM_001037732.3(DEFB128):c.40G>A (p.Val14Ile)	DEFB128 (V14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302732	NM_001037732.3(DEFB128):c.37G>A (p.Glu13Lys)	DEFB128 (E13K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046097	NM_001037732.3(DEFB128):c.2T>A (p.Met1Lys)	DEFB128 (M1K)	Single nucleotide variant (missense variant +1 more)	DEFB128-related disorder	GLikely benign

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