Related gene-specific medical variations for Gene (Select 3811) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498240	NM_013289.4(KIR3DL1):c.475G>T (p.Gly159Trp)	KIR3DL1 (G159W)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2498239	NM_013289.4(KIR3DL1):c.337G>A (p.Val113Met)	KIR3DL1 (V113M)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 97715	NM_001127255.2(NLRP7):c.1137G>C (p.Lys379Asn)	KIR3DL1, NLRP7 (K379N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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