DEFB125[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146724	GRCh38/hg38 20p13(chr20:80093-127625)x3	DEFB125	Copy number gain	See cases	GBenign/Likely benign
Select item 3271462	NM_153325.4(DEFB125):c.7A>G (p.Ile3Val)	DEFB125 (I3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455231	NM_153325.4(DEFB125):c.13A>T (p.Met5Leu)	DEFB125 (M5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307114	NM_153325.4(DEFB125):c.47G>A (p.Arg16Gln)	DEFB125 (R16Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320816	NM_153325.4(DEFB125):c.83G>T (p.Trp28Leu)	DEFB125 (W28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271463	NM_153325.4(DEFB125):c.136A>G (p.Ile46Val)	DEFB125 (I46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081315	NM_153325.4(DEFB125):c.148A>G (p.Arg50Gly)	DEFB125 (R50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550441	NM_153325.4(DEFB125):c.191A>G (p.Tyr64Cys)	DEFB125 (Y64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081316	NM_153325.4(DEFB125):c.232A>G (p.Ile78Val)	DEFB125 (I78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533333	NM_153325.4(DEFB125):c.311C>T (p.Thr104Ile)	DEFB125 (T104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624398	NM_153325.4(DEFB125):c.329C>A (p.Thr110Asn)	DEFB125 (T110N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247444	NM_153325.4(DEFB125):c.352C>T (p.Pro118Ser)	DEFB125 (P118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324011	NM_153325.4(DEFB125):c.358A>G (p.Thr120Ala)	DEFB125 (T120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356891	NM_153325.4(DEFB125):c.391G>A (p.Glu131Lys)	DEFB125 (E131K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081317	NM_153325.4(DEFB125):c.428A>G (p.Glu143Gly)	DEFB125 (E143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816100	GRCh37/hg19 20p13(chr20:61568-121733)x1	DEFB125	Copy number loss	not provided	GUncertain significance