"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SOX6"[gene - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2641628	NM_001367873.1(SOX6):c.2314A>G (p.Ser772Gly)	SOX6 (S731G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641629	NM_001367873.1(SOX6):c.2169G>A (p.Gln723=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067435	NM_001367873.1(SOX6):c.2040C>T (p.Ile680=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026712	NM_001367873.1(SOX6):c.1997A>G (p.Glu666Gly)	SOX6 (E625G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641630	NM_001367873.1(SOX6):c.1995G>A (p.Gln665=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2641631	NM_001367873.1(SOX6):c.1732+6T>C	SOX6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2641632	NM_001367873.1(SOX6):c.1662G>A (p.Thr554=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641633	NM_001367873.1(SOX6):c.1500del (p.Gln501fs)	SOX6 (Q460fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3027141	NM_001367873.1(SOX6):c.1339C>T (p.Leu447Phe)	SOX6 (L406F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593752	NM_001367873.1(SOX6):c.1218A>G (p.Glu406=)	SOX6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2641634	NM_001367873.1(SOX6):c.1087C>T (p.His363Tyr)	SOX6 (H363Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1298506	NM_001367873.1(SOX6):c.918G>C (p.Gln306His)	SOX6 (Q306H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2641635	NM_001367873.1(SOX6):c.726G>C (p.Gln242His)	SOX6 (Q242H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1615435	NM_001367873.1(SOX6):c.720A>G (p.Gln240=)	SOX6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2641636	NM_001367873.1(SOX6):c.650C>T (p.Ala217Val)	SOX6 (A217V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641637	NM_001367873.1(SOX6):c.488A>C (p.Glu163Ala)	SOX6 (E163A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2457069	NM_001367873.1(SOX6):c.464A>C (p.Lys155Thr)	SOX6 (K155T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2641638	NM_001367873.1(SOX6):c.463A>G (p.Lys155Glu)	SOX6 (K155E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067663	NM_001367873.1(SOX6):c.297A>T (p.Pro99=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1298507	NM_001367873.1(SOX6):c.277C>T (p.Arg93Ter)	SOX6 (R93*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

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Items: 20