ClinVar for MedGen (Select 336845) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96981	NM_198488.5(FAM83H):c.2766C>T (p.Arg922=)	FAM83H	Single nucleotide variant (synonymous variant)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	Gnot provided
Select item 96980	NM_198488.5(FAM83H):c.2765G>T (p.Arg922Leu)	FAM83H (R922L)	Single nucleotide variant (missense variant)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	Gnot provided
Select item 96979	NM_198488.5(FAM83H):c.2250C>T (p.Gly750=)	FAM83H	Single nucleotide variant (synonymous variant)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	Gnot provided
Select item 96978	NM_001142.2(AMELX):c.132C>A (p.Ser44Arg)	ARHGAP6, AMELX (S58R +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	Gnot provided
Select item 96977	NM_001142.2(AMELX):c.131G>A (p.Ser44Asn)	AMELX, ARHGAP6 (S58N +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	Gnot provided
Select item 96976	NM_001142.2(AMELX):c.129G>C (p.Gln43His)	AMELX, ARHGAP6 (Q57H +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	Gnot provided

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