ClinVar for MedGen (Select 1392054) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024241	NM_006013.5(RPL10):c.214G>A (p.Ala72Thr)	RPL10 (A36T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, 35 +1 more	GUncertain significance
Select item 1802573	NM_006013.5(RPL10):c.535G>A (p.Asp179Asn)	RPL10 (D143N +1 more)	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, X-linked, syndromic, 35	GUncertain significance
Select item 1679194	NM_006013.5(RPL10):c.218A>C (p.Asn73Thr)	RPL10 (N37T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, 35	GUncertain significance
Select item 1327969	NM_006013.5(RPL10):c.-24+3G>A	LOC130068867, RPL10	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, X-linked, syndromic, 35	GBenign
Select item 1031592	NM_006013.5(RPL10):c.347G>A (p.Arg116Gln)	RPL10 (R80Q +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, X-linked, syndromic, 35	GUncertain significance
Select item 1028473	NM_006013.5(RPL10):c.191-5C>T	RPL10	Single nucleotide variant (intron variant)	Intellectual disability, X-linked, syndromic, 35	GUncertain significance
Select item 977077	NM_006013.5(RPL10):c.578A>G (p.Asp193Gly)	RPL10 (D157G +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic, 35	GUncertain significance
Select item 931462	NM_006013.5(RPL10):c.236G>C (p.Ser79Thr)	RPL10 (S43T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, 35 +1 more	GUncertain significance
Select item 818225	NM_006013.5(RPL10):c.565C>T (p.Arg189Trp)	RPL10 (R153W +1 more)	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, X-linked, syndromic, 35	GLikely pathogenic
Select item 430614	NM_006013.5(RPL10):c.191C>T (p.Ala64Val)	RPL10 (A64V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, 35	GPathogenic
Select item 430613	NM_006013.5(RPL10):c.481G>A (p.Gly161Ser)	RPL10 (G161S +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, X-linked, syndromic, 35	GPathogenic
Select item 430612	NM_006013.5(RPL10):c.232A>G (p.Lys78Glu)	RPL10 (K78E +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic