ClinVar for MedGen (Select 1683634) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065751	NM_003107.3(SOX4):c.1173_1184del (p.Gly393_Ser396del)	SOX4	Deletion (inframe_deletion)	Coffin-Siris syndrome 10	GUncertain significance
Select item 2664807	NM_003107.3(SOX4):c.91_92delinsAA (p.Ala31Asn)	SOX4 (A31N)	Indel (missense variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 2664011	NM_003107.3(SOX4):c.373_378del (p.Asp125_Tyr126del)	SOX4	Deletion (inframe_deletion)	Coffin-Siris syndrome 10	GLikely pathogenic
Select item 2583138	NM_003107.3(SOX4):c.965delinsAGGG (p.Leu322delinsGlnGly)	LOC129995966, SOX4	Indel (inframe_indel)	Coffin-Siris syndrome 10	GUncertain significance
Select item 2580163	NM_003107.3(SOX4):c.281G>A (p.Gly94Asp)	SOX4 (G94D)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10	GLikely pathogenic
Select item 2443796	NM_003107.3(SOX4):c.130_133delinsCGCT (p.Gly44_Lys45delinsArgTer)	SOX4	Indel (nonsense)	Coffin-Siris syndrome 10	GPathogenic
Select item 2443795	NM_003107.3(SOX4):c.1333G>T (p.Glu445Ter)	SOX4	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 10	GPathogenic
Select item 2443346	NM_003107.3(SOX4):c.362C>G (p.Ala121Gly)	SOX4 (A121G)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 2436258	NM_003107.3(SOX4):c.618_626del (p.204AGG[1])	SOX4	Deletion (inframe_deletion)	Coffin-Siris syndrome 10	GUncertain significance
Select item 1686223	NM_003107.3(SOX4):c.975C>G (p.Tyr325Ter)	SOX4 (Y325*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 10	GPathogenic
Select item 1526184	NM_003107.3(SOX4):c.173A>C (p.His58Pro)	SOX4 (H58P)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 1341908	NM_003107.3(SOX4):c.149G>C (p.Ser50Thr)	SOX4 (S50T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 1341848	NM_003107.3(SOX4):c.499_500insCGG (p.His166_Gly167insAla)	SOX4	Insertion (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1333895	NM_003107.3(SOX4):c.1382A>T (p.Asp461Val)	SOX4 (D461V)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 1285590	NM_003107.3(SOX4):c.193G>A (p.Ala65Thr)	SOX4 (A65T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 1220547	NM_003107.3(SOX4):c.1040C>A (p.Ser347Ter)	SOX4 (S347*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 10	GLikely pathogenic
Select item 1029670	NM_003107.3(SOX4):c.746C>A (p.Pro249His)	SOX4 (P249H)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 996845	NM_003107.3(SOX4):c.322_323insA (p.Phe108fs)	SOX4 (F108fs)	Insertion (frameshift variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 982764	NM_003107.3(SOX4):c.1308dup (p.Glu437fs)	SOX4 (E437fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 931190	NM_003107.3(SOX4):c.697_708del (p.Ala233_Ser236del)	SOX4	Deletion (inframe_deletion)	Coffin-Siris syndrome 10	GUncertain significance
Select item 635854	NM_003107.3(SOX4):c.315G>T (p.Lys105Asn)	SOX4 (K105N)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 635853	NM_003107.3(SOX4):c.176T>G (p.Ile59Ser)	SOX4 (I59S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 635852	NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)	SOX4 (A112P)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 548142	NM_003107.3(SOX4):c.198C>A (p.Phe66Leu)	SOX4 (F66L)	Single nucleotide variant (missense variant)	Intellectual disability, mild	GLikely pathogenic

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Items: 24