"GeneDx"[submitter] AND "SOX5"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 504252	NM_006940.6(SOX5):c.2292A>G (p.Ter764Trp)	SOX5	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 3363907	NM_006940.6(SOX5):c.2150G>T (p.Gly717Val)	SOX5 (G331V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369757	NM_006940.6(SOX5):c.1993C>G (p.Gln665Glu)	SOX5 (Q279E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205702	NM_006940.6(SOX5):c.1977C>A (p.Tyr659Ter)	SOX5 (Y273* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1327833	NM_006940.6(SOX5):c.1975T>A (p.Tyr659Asn)	SOX5 (Y273N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663167	NM_006940.6(SOX5):c.1957C>T (p.Arg653Trp)	SOX5 (R267W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 695089	NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys)	SOX5 (Y610C +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 695087	NM_006940.6(SOX5):c.1814A>G (p.Tyr605Cys)	SOX5 (Y605C +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2575865	NM_006940.6(SOX5):c.1797C>G (p.Asn599Lys)	SOX5 (N213K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 695086	NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter)	SOX5 (W208* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1305028	NM_006940.6(SOX5):c.1778G>A (p.Arg593His)	SOX5 (R207H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526379	NM_006940.6(SOX5):c.1748A>G (p.Asn583Ser)	SOX5 (N197S +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 620040	NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)	SOX5 (R558W +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 695083	NM_006940.6(SOX5):c.1678A>G (p.Met560Val)	SOX5 (M560V +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2501978	NM_006940.6(SOX5):c.1676C>T (p.Pro559Leu)	SOX5 (P173L +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 973345	NM_006940.6(SOX5):c.1673G>A (p.Arg558His)	SOX5 (R172H +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 449233	NM_006940.6(SOX5):c.1597+2T>A	SOX5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3377853	NM_006940.6(SOX5):c.1507A>C (p.Ser503Arg)	SOX5 (S117R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 695081	NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter)	SOX5 (R107* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1804340	NM_006940.6(SOX5):c.1357C>T (p.His453Tyr)	SOX5 (H418Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3378162	NM_006940.6(SOX5):c.1342+1G>T	SOX5	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 2574979	NM_006940.6(SOX5):c.1337_1338dup (p.Ile447fs)	SOX5 (I412fs +4 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 3372760	NM_006940.6(SOX5):c.1165-8714A>G	SOX5 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3373183	NM_006940.6(SOX5):c.1011A>C (p.Gln337His)	SOX5 (Q302H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195659	NM_006940.6(SOX5):c.932-1G>C	SOX5	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1309981	NM_006940.6(SOX5):c.817G>A (p.Gly273Ser)	SOX5 (G238S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707733	NM_006940.6(SOX5):c.783A>C (p.Lys261Asn)	SOX5 (K226N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430423	NM_006940.6(SOX5):c.782A>G (p.Lys261Arg)	SOX5 (K226R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503755	NM_006940.6(SOX5):c.637C>T (p.Arg213Ter)	SOX5 (R200* +3 more)	Single nucleotide variant (nonsense)	Lamb-Shaffer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3373597	NM_006940.6(SOX5):c.622C>A (p.Gln208Lys)	SOX5 (Q173K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375709	NM_006940.6(SOX5):c.571A>T (p.Thr191Ser)	SOX5 (T156S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312920	NM_006940.6(SOX5):c.538A>G (p.Met180Val)	SOX5 (M145V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 695077	NM_006940.6(SOX5):c.518G>A (p.Trp173Ter)	SOX5 (W163* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 59436	GRCh38/hg38 12p12.1(chr12:23815416-24068288)x1	LOC124629333, LOC129390413 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1306237	NM_006940.6(SOX5):c.361G>A (p.Gly121Ser)	SOX5 (G108S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442685	NM_006940.6(SOX5):c.359del (p.Ser120fs)	SOX5 (S107fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2580484	NM_006940.6(SOX5):c.270+4G>A	SOX5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1878927	NM_006940.6(SOX5):c.266C>A (p.Thr89Lys)	SOX5 (T76K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1712531	NM_006940.6(SOX5):c.23C>T (p.Pro8Leu)	SOX5 (P8L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343086	NM_006940.6(SOX5):c.21A>C (p.Leu7Phe)	SOX5 (L7F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2431715	NM_006940.6(SOX5):c.5T>G (p.Leu2Arg)	SOX5 (L2R)	Single nucleotide variant (missense variant +1 more)	Lamb-Shaffer syndrome +1 more	GUncertain significance
Select item 2444597	NM_006940.6(SOX5):c.3G>A (p.Met1Ile)	SOX5 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 151287	GRCh38/hg38 12p12.1(chr12:24461328-24496832)x3	SOX5	Copy number gain	See cases	GLikely benign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 3362111	NM_006940.6(SOX5):c.1388C>T (p.Ala463Val)	SOX5 (A428V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361037	NM_006940.6(SOX5):c.1035G>C (p.Gln345His)	SOX5 (Q310H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360802	NM_006940.6(SOX5):c.2214G>C (p.Glu738Asp)	SOX5 (E352D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360421	NM_006940.6(SOX5):c.953T>C (p.Leu318Pro)	SOX5 (L283P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 49