Related gene-specific medical variations for Gene (Select 55553) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167806	NM_001367873.1(SOX6):c.830G>A (p.Arg277Gln)	LOC128772343, SOX6 (R277Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068285	NM_001367873.1(SOX6):c.2224G>A (p.Val742Met)	SOX6 (V701M +3 more)	Single nucleotide variant (missense variant)	Tolchin-Le Caignec syndrome	GUncertain significance
Select item 3068088	NM_001367873.1(SOX6):c.137del (p.Ile46fs)	SOX6 (I46fs)	Deletion (frameshift variant)	Tolchin-Le Caignec syndrome	GUncertain significance
Select item 3063207	GRCh37/hg19 11p15.1(chr11:16355099-16443579)x1	SOX6	Copy number loss	not specified	GUncertain significance
Select item 3062085	NM_001367873.1(SOX6):c.1252G>A (p.Asp418Asn)	SOX6 (D377N +1 more)	Single nucleotide variant (missense variant)	Tolchin-Le Caignec syndrome	GUncertain significance
Select item 3061996	NM_001367873.1(SOX6):c.50A>G (p.Glu17Gly)	SOX6 (E17G)	Single nucleotide variant (missense variant)	Tolchin-Le Caignec syndrome	GUncertain significance
Select item 3020704	NM_001367873.1(SOX6):c.873C>A (p.Phe291Leu)	LOC128772343, SOX6 (F291L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960680	NM_001367873.1(SOX6):c.877C>G (p.Pro293Ala)	LOC128772343, SOX6 (P293A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627902	NM_001367873.1(SOX6):c.2026del (p.Arg676fs)	SOX6 (R635fs +3 more)	Deletion (frameshift variant)	Tolchin-Le Caignec syndrome	GPathogenic
Select item 2584635	NM_001367873.1(SOX6):c.445+33803del	SOX6	Deletion (intron variant)	Tolchin-Le Caignec syndrome	GUncertain significance
Select item 2446507	NM_001367873.1(SOX6):c.871T>C (p.Phe291Leu)	LOC128772343, SOX6 (F291L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436264	NM_001367873.1(SOX6):c.1037T>C (p.Phe346Ser)	SOX6 (F346S)	Single nucleotide variant (missense variant +1 more)	Tolchin-Le Caignec syndrome	GUncertain significance
Select item 2433671	NM_001367873.1(SOX6):c.1102C>T (p.Gln368Ter)	SOX6 (Q327* +1 more)	Single nucleotide variant (nonsense)	Tolchin-Le Caignec syndrome	GLikely pathogenic
Select item 2430629	NM_001367873.1(SOX6):c.811A>G (p.Ile271Val)	LOC128772343, SOX6 (I271V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2390626	NM_001367873.1(SOX6):c.790A>G (p.Met264Val)	LOC128772343, SOX6 (M264V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357641	NM_001367873.1(SOX6):c.877C>T (p.Pro293Ser)	LOC128772343, SOX6 (P293S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1934001	NM_001367873.1(SOX6):c.884T>A (p.Ile295Lys)	LOC128772343, SOX6 (I295K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695601	NM_001367873.1(SOX6):c.841G>A (p.Ala281Thr)	LOC128772343, SOX6 (A281T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678672	NM_001367873.1(SOX6):c.829C>T (p.Arg277Trp)	LOC128772343, SOX6 (R277W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283828	NM_001367873.1(SOX6):c.834T>C (p.Thr278=)	LOC128772343, SOX6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1264733	NM_033326.3(SOX6):c.-4-61857C>G	LOC110121340, SOX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 977313	NM_001367873.1(SOX6):c.878dup (p.Gly294fs)	LOC128772343, SOX6 (G294fs)	Duplication (frameshift variant)	Intellectual disability	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 22