ClinVar for MedGen (Select 412869) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031215	NM_001189.4(NKX3-2):c.295G>A (p.Glu99Lys)	NKX3-2 (E99K)	Single nucleotide variant (missense variant)	Spondylo-megaepiphyseal-metaphyseal dysplasia	GUncertain significance
Select item 522597	NM_001189.4(NKX3-2):c.507_508del (p.Gly171fs)	NKX3-2 (G171fs)	Deletion (frameshift variant)	Spondylo-megaepiphyseal-metaphyseal dysplasia	GPathogenic/Likely pathogenic
Select item 193201	NM_001189.4(NKX3-2):c.247C>A (p.Arg83=)	NKX3-2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 7493	NM_001189.4(NKX3-2):c.104_110del (p.Ala35fs)	NKX3-2 (A35fs)	Microsatellite (frameshift variant)	Spondylo-megaepiphyseal-metaphyseal dysplasia +1 more	GPathogenic
Select item 7492	NM_001189.4(NKX3-2):c.336_337delinsT (p.Ala113fs)	NKX3-2 (A113fs)	Indel (frameshift variant)	Spondylo-megaepiphyseal-metaphyseal dysplasia	GPathogenic
Select item 7491	NM_001189.4(NKX3-2):c.337dup (p.Ala113fs)	NKX3-2 (A113fs)	Duplication (frameshift variant)	Spondylo-megaepiphyseal-metaphyseal dysplasia	GPathogenic

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