ClinVar for Gene (Select 128772343) - ClinVar - NCBI

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Links from Gene

Items: 15

	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 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 2446507	NM_001367873.1(SOX6):c.871T>C (p.Phe291Leu)	LOC128772343, SOX6 (F291L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 977313	NM_001367873.1(SOX6):c.878dup (p.Gly294fs)	LOC128772343, SOX6 (G294fs)	Duplication (frameshift variant)	Intellectual disability	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	ADM, ADM-DT +208 more	Copy number loss	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	See cases	GPathogenic
Select item 57478	GRCh38/hg38 11p15.2(chr11:16101236-16446623)x1	LOC110120848, LOC110120926 +9 more	Copy number loss	See cases	GUncertain significance