Related gene-specific medical variations for Gene (Select 108281134) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3026472	NM_005634.3(SOX3):c.68G>C (p.Ser23Thr)	LOC108281134, SOX3 (S23T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661544	NM_005634.3(SOX3):c.63G>T (p.Ala21=)	LOC108281134, SOX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661543	NM_005634.3(SOX3):c.149T>C (p.Leu50Pro)	LOC108281134, SOX3 (L50P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2474517	NM_005634.3(SOX3):c.136G>A (p.Glu46Lys)	LOC108281134, SOX3 (E46K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445465	NM_005634.3(SOX3):c.64C>G (p.Arg22Gly)	LOC108281134, SOX3 (R22G)	Single nucleotide variant (missense variant)	See cases +2 more	GUncertain significance
Select item 2328818	NM_005634.3(SOX3):c.160G>A (p.Ala54Thr)	SOX3, LOC108281134 (A54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2171527	NM_005634.3(SOX3):c.113G>A (p.Arg38Lys)	LOC108281134, SOX3 (R38K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063216	NM_005634.3(SOX3):c.148C>T (p.Leu50Phe)	LOC108281134, SOX3 (L50F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959740	NM_005634.3(SOX3):c.87C>G (p.Pro29=)	LOC108281134, SOX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 931754	NM_005634.3(SOX3):c.186TCC[1] (p.Pro64del)	LOC108281134, SOX3 (P64del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 804090	NM_005634.3(SOX3):c.14G>C (p.Arg5Pro)	LOC108281134, SOX3 (R5P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 598671	NM_005634.3(SOX3):c.118C>T (p.Pro40Ser)	LOC108281134, SOX3 (P40S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284523	NM_005634.3(SOX3):c.77T>C (p.Ile26Thr)	LOC108281134, SOX3 (I26T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 193324	NM_005634.3(SOX3):c.84A>C (p.Leu28=)	LOC108281134, SOX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 193322	NM_005634.3(SOX3):c.127G>A (p.Ala43Thr)	LOC108281134, SOX3 (A43T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 193320	NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)	LOC108281134, SOX3 (R5Q)	Single nucleotide variant (missense variant)	SOX3-related condition +5 more	GBenign/Likely benign
Select item 193318	NM_005634.2(SOX3):c.-4G>A	LOC108281134, SOX3	Single nucleotide variant	not provided	GUncertain significance
Select item 167718	NM_005634.3(SOX3):c.157G>C (p.Val53Leu)	LOC108281134, SOX3 (V53L)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +3 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 20