KIR2DL1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2650462	NM_014218.3(KIR2DL1):c.107G>A (p.Gly36Asp)	KIR2DL1 (G36D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3060204	NM_014218.3(KIR2DL1):c.110G>C (p.Arg37Pro)	KIR2DL1 (R37P)	Single nucleotide variant (missense variant)	KIR2DL1-related disorder	GBenign
Select item 3059752	NM_014218.3(KIR2DL1):c.144G>A (p.Gln48=)	KIR2DL1	Single nucleotide variant (synonymous variant)	KIR2DL1-related disorder	GLikely benign
Select item 3057112	NM_014218.3(KIR2DL1):c.262A>G (p.Ser88Gly)	KIR2DL1 (S88G)	Single nucleotide variant (missense variant)	KIR2DL1-related disorder	GLikely benign
Select item 2498238	NM_014218.3(KIR2DL1):c.272C>A (p.Thr91Lys)	KIR2DL1 (T91K)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2650463	NM_014218.3(KIR2DL1):c.273G>A (p.Thr91=)	KIR2DL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650464	NM_014218.3(KIR2DL1):c.339T>G (p.Ala113=)	KIR2DL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650465	NM_014218.3(KIR2DL1):c.367A>G (p.Ile123Val)	KIR2DL1 (I123V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3061018	NM_014218.3(KIR2DL1):c.419T>A (p.Leu140Gln)	KIR2DL1 (L140Q)	Single nucleotide variant (missense variant)	KIR2DL1-related disorder	GLikely benign
Select item 3060765	NM_014218.3(KIR2DL1):c.521G>T (p.Gly174Val)	KIR2DL1 (G174V)	Single nucleotide variant (missense variant)	KIR2DL1-related disorder	GLikely benign
Select item 3060208	NM_014218.3(KIR2DL1):c.524C>G (p.Pro175Arg)	KIR2DL1 (P175R)	Single nucleotide variant (missense variant)	KIR2DL1-related disorder	GLikely benign
Select item 2650466	NM_014218.3(KIR2DL1):c.715+1428G>A	KIR2DL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3039076	NM_014218.3(KIR2DL1):c.950G>A (p.Arg317His)	KIR2DL1 (R317H)	Single nucleotide variant (missense variant)	KIR2DL1-related disorder	GLikely benign
Select item 3060390	NM_014218.3(KIR2DL1):c.997A>G (p.Thr333Ala)	KIR2DL1 (T333A)	Single nucleotide variant (missense variant)	KIR2DL1-related disorder	GLikely benign