ClinVar for MedGen (Select 1803486) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2674608	NM_002063.4(GLRA2):c.659A>C (p.Gln220Pro)	GLRA2 (Q131P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Pilorge type	GUncertain significance
Select item 1705404	NM_002063.4(GLRA2):c.1048C>T (p.Arg350Cys)	FANCB, GLRA2 (R261C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1686860	NM_002063.4(GLRA2):c.1049G>T (p.Arg350Leu)	FANCB, GLRA2 (R261L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Pilorge type	GPathogenic
Select item 1686859	NM_002063.4(GLRA2):c.458G>A (p.Arg153Gln)	GLRA2 (R153Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Pilorge type	GPathogenic
Select item 1686858	NC_000023.10:g.14693216_14836199del	GLRA2	Deletion	Intellectual developmental disorder, X-linked, syndromic, Pilorge type	GPathogenic
Select item 1686857	NM_002063.4(GLRA2):c.407A>G (p.Asn136Ser)	GLRA2 (N47S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Pilorge type	GPathogenic
Select item 1334408	NM_002063.4(GLRA2):c.777C>G (p.Ile259Met)	GLRA2 (I170M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Pilorge type	GLikely pathogenic
Select item 1334406	NM_002063.4(GLRA2):c.1186C>A (p.Pro396Thr)	FANCB, GLRA2 (P307T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Pilorge type	GLikely pathogenic
Select item 1334405	NM_002063.4(GLRA2):c.754C>T (p.Arg252Cys)	GLRA2 (R163C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Pilorge type +1 more	GUncertain significance
Select item 810510	NM_002063.4(GLRA2):c.887C>T (p.Thr296Met)	GLRA2 (T296M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity