ClinVar for MedGen (Select 1379183) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638632	NM_021913.5(AXL):c.2161C>G (p.Leu721Val)	AXL (L453V +2 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638631	NM_001080517.3(SETD5):c.2837C>T (p.Pro946Leu)	SETD5 (P946L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638630	NM_006219.3(PIK3CB):c.2961G>T (p.Glu987Asp)	PIK3CB (E499D +1 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638629	NM_000875.5(IGF1R):c.3464G>A (p.Gly1155Asp)	IGF1R (G1154D +1 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638628	NM_005235.3(ERBB4):c.785G>A (p.Cys262Tyr)	ERBB4 (C262Y)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638627	NM_003073.5(SMARCB1):c.1129C>G (p.Arg377Gly)	SMARCB1 (R377G +3 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638626	NM_001386298.1(CIC):c.7506dup (p.Pro2503fs)	CIC (P1594fs +4 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 638625	NM_175635.3(RUNX1T1):c.127A>C (p.Thr43Pro)	RUNX1T1 (T43P +6 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638624	NM_007194.4(CHEK2):c.1421G>T (p.Arg474Leu)	CHEK2 (R474L +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 638623	NM_003590.5(CUL3):c.1499G>A (p.Gly500Asp)	CUL3 (G500D +2 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638622	NM_004217.4(AURKB):c.847C>T (p.Arg283Cys)	AURKB (R115C +6 more)	Single nucleotide variant (missense variant +1 more)	NK-cell enteropathy	GLikely pathogenic
Select item 638621	NM_002850.4(PTPRS):c.4756G>A (p.Val1586Met)	PTPRS (V1586M +3 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638620	NM_000215.4(JAK3):c.1688_1696del (p.Lys563_Cys565del)	JAK3	Deletion (inframe_deletion)	NK-cell enteropathy	GPathogenic