ClinVar for MedGen (Select 394771) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582418	NM_005634.3(SOX3):c.1265G>A (p.Arg422His)	SOX3 (R422H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with panhypopituitarism	GUncertain significance
Select item 1805522	NM_005634.3(SOX3):c.253A>C (p.Lys85Gln)	LOC108281134, SOX3 (K85Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with panhypopituitarism	GUncertain significance
Select item 1034198	NM_005634.3(SOX3):c.337G>A (p.Ala113Thr)	SOX3 (A113T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1034197	NM_005634.3(SOX3):c.20A>G (p.Asn7Ser)	LOC108281134, SOX3 (N7S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with panhypopituitarism	GUncertain significance
Select item 1030001	NM_005634.3(SOX3):c.791T>G (p.Val264Gly)	SOX3 (V264G)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with panhypopituitarism	GUncertain significance
Select item 804090	NM_005634.3(SOX3):c.14G>C (p.Arg5Pro)	LOC108281134, SOX3 (R5P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with panhypopituitarism +1 more	GConflicting classifications of pathogenicity
Select item 444006	NM_005634.3(SOX3):c.449C>A (p.Ser150Tyr)	SOX3 (S150Y)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with panhypopituitarism	GLikely pathogenic
Select item 289513	NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del)	SOX3	Deletion (inframe_deletion)	not specified +3 more	GBenign/Likely benign
Select item 193320	NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)	LOC108281134, SOX3 (R5Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 167718	NM_005634.3(SOX3):c.157G>C (p.Val53Leu)	LOC108281134, SOX3 (V53L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 95305	NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	SOX3	Duplication (inframe_insertion)	not provided +27 more	GConflicting classifications of pathogenicity