"Eurofins Ntd Llc (ga)"[submitter] AND "SOX3"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193323	NM_005634.3(SOX3):c.856A>G (p.Ser286Gly)	SOX3 (S286G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95305	NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	SOX3	Duplication (inframe_insertion)	SOX3-related condition +28 more	GConflicting classifications of pathogenicity
Select item 193325	NM_005634.3(SOX3):c.732delinsCGCC (p.Ala248dup)	SOX3	Indel (inframe_insertion)	SOX3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 95304	NM_005634.3(SOX3):c.732A>C (p.Ala244=)	SOX3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 289513	NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del)	SOX3	Deletion (inframe_deletion)	SOX3-related condition +4 more	GBenign/Likely benign
Select item 281870	NM_005634.3(SOX3):c.726_731del (p.Ala247_Ala248del)	SOX3	Deletion (inframe_deletion)	not provided +1 more	GLikely benign
Select item 95303	NM_005634.3(SOX3):c.609T>C (p.Tyr203=)	SOX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 193319	NM_005634.3(SOX3):c.603G>A (p.Lys201=)	SOX3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 286290	NM_005634.3(SOX3):c.398G>T (p.Gly133Val)	SOX3 (G133V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 95302	NM_005634.3(SOX3):c.307C>A (p.Pro103Thr)	SOX3 (P103T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 167718	NM_005634.3(SOX3):c.157G>C (p.Val53Leu)	LOC108281134, SOX3 (V53L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 193322	NM_005634.3(SOX3):c.127G>A (p.Ala43Thr)	LOC108281134, SOX3 (A43T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 193324	NM_005634.3(SOX3):c.84A>C (p.Leu28=)	LOC108281134, SOX3	Single nucleotide variant (synonymous 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 193320	NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)	LOC108281134, SOX3 (R5Q)	Single nucleotide variant (missense variant)	Panhypopituitarism, X-linked +4 more	GBenign/Likely benign
Select item 193318	NM_005634.2(SOX3):c.-4G>A	LOC108281134, SOX3	Single nucleotide variant	not provided	GUncertain significance