6660[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 496727	Single allele	LOC132090076, SOX5	Deletion	Optic nerve hypoplasia	GPathogenic
Select item 153439	GRCh38/hg38 12p12.1(chr12:23460257-24693739)x1	LINC00477, LOC110120948 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 222018	NC_000012.12:g.23484745_23564581del	LOC132090076, SOX5	Deletion	Lamb-Shaffer syndrome	GPathogenic
Select item 222019	NC_000012.12:g.23488792_23626279del	LOC132090076, SOX5	Deletion	Lamb-Shaffer syndrome	GPathogenic
Select item 504252	NM_006940.6(SOX5):c.2292A>G (p.Ter764Trp)	SOX5	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2690059	NM_006940.6(SOX5):c.2283A>C (p.Gln761His)	SOX5 (Q375H +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GUncertain significance
Select item 2642784	NM_006940.6(SOX5):c.2252G>T (p.Gly751Val)	SOX5 (G365V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2329087	NM_006940.6(SOX5):c.2221G>A (p.Glu741Lys)	SOX5 (E355K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 794534	NM_006940.6(SOX5):c.2217C>T (p.Tyr739=)	SOX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2436263	NM_006940.6(SOX5):c.2149G>A (p.Gly717Arg)	SOX5 (G331R +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GUncertain significance
Select item 3167799	NM_006940.6(SOX5):c.2134A>G (p.Thr712Ala)	SOX5 (T699A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3167798	NM_006940.6(SOX5):c.2127C>G (p.Ile709Met)	SOX5 (I323M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2498547	NM_006940.6(SOX5):c.2092G>A (p.Val698Met)	SOX5 (V312M +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 720607	NM_006940.6(SOX5):c.2079G>A (p.Ser693=)	SOX5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 695092	NM_006940.6(SOX5):c.2078C>T (p.Ser693Leu)	SOX5 (S680L +5 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 746099	NM_006940.6(SOX5):c.2028G>A (p.Val676=)	SOX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 753348	NM_006940.6(SOX5):c.1929T>G (p.Gly643=)	SOX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122298	NM_006940.6(SOX5):c.1913A>G (p.Lys638Arg)	SOX5 (K252R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431148	NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn)	SOX5 (T619N +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GLikely pathogenic
Select item 695089	NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys)	SOX5 (Y610C +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2433667	NM_006940.6(SOX5):c.1867T>C (p.Tyr623His)	SOX5 (Y237H +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GLikely pathogenic
Select item 2500347	NM_006940.6(SOX5):c.1864G>A (p.Asp622Asn)	SOX5 (D236N +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GUncertain significance
Select item 2775436	NM_006940.6(SOX5):c.1862del (p.Pro621fs)	SOX5 (P586fs +5 more)	Deletion (frameshift variant)	Lamb-Shaffer syndrome	GPathogenic
Select item 1172558	NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg)	SOX5 (K233R +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GUncertain significance
Select item 3167797	NM_006940.6(SOX5):c.1848C>G (p.His616Gln)	SOX5 (H495Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 224817	NM_006940.6(SOX5):c.1831C>G (p.Arg611Gly)	SOX5 (R598G +5 more)	Single nucleotide variant (missense variant)	Cerebral visual impairment and intellectual disability	GLikely pathogenic
Select item 695088	NM_006940.6(SOX5):c.1819G>T (p.Glu607Ter)	SOX5 (E486* +5 more)	Single nucleotide variant (nonsense)	Lamb-Shaffer syndrome	GPathogenic
Select item 807695	NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser)	SOX5 (Y484S +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GLikely pathogenic
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 1527935	NM_006940.6(SOX5):c.1807C>T (p.Gln603Ter)	SOX5 (Q217* +5 more)	Single nucleotide variant (nonsense)	Lamb-Shaffer syndrome	GPathogenic
Select item 1319819	NM_006940.6(SOX5):c.1801G>A (p.Glu601Lys)	SOX5 (E215K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 873457	NM_006940.6(SOX5):c.1789A>G (p.Met597Val)	SOX5 (M562V +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GLikely pathogenic
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 1319837	NM_006940.6(SOX5):c.1772-13C>T	SOX5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1333149	NM_006940.6(SOX5):c.1771+29G>A	SOX5	Single nucleotide variant (intron variant)	Lamb-Shaffer syndrome	GBenign
Select item 633579	NM_006940.6(SOX5):c.1764G>C (p.Lys588Asn)	SOX5 (K575N +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2637354	NM_006940.6(SOX5):c.1760G>C (p.Ser587Thr)	SOX5 (S201T +5 more)	Single nucleotide variant (missense variant)	SOX5-related disorder	GUncertain significance
Select item 982856	NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys)	SOX5 (S201C +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GLikely pathogenic
Select item 1701191	NM_006940.6(SOX5):c.1749C>T (p.Asn583=)	SOX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2572283	NM_006940.6(SOX5):c.1712G>A (p.Arg571Gln)	SOX5 (R185Q +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GPathogenic
Select item 695085	NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu)	SOX5 (R561L +5 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
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 1879227	NM_006940.6(SOX5):c.1697G>A (p.Trp566Ter)	SOX5 (W180* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2442354	NM_006940.6(SOX5):c.1694T>A (p.Val565Glu)	SOX5 (V179E +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GLikely pathogenic
Select item 695084	NM_006940.6(SOX5):c.1681A>C (p.Asn561His)	SOX5 (N548H +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GLikely 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 806852	NM_006940.6(SOX5):c.1672C>T (p.Arg558Cys)	SOX5 (R523C +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 987315	NM_006940.6(SOX5):c.1659del (p.Glu553fs)	SOX5 (E167fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1297543	NM_006940.6(SOX5):c.1639C>T (p.Arg547Ter)	SOX5 (R161* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2430041	NM_006940.6(SOX5):c.1628A>G (p.Tyr543Cys)	SOX5 (Y157C +5 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 695082	NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter)	SOX5 (S417* +5 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 449233	NM_006940.6(SOX5):c.1597+2T>A	SOX5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2498548	NM_006940.6(SOX5):c.1596T>G (p.Asp532Glu)	SOX5 (D146E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672493	NM_006940.6(SOX5):c.1586G>C (p.Gly529Ala)	SOX5 (G143A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675486	NM_006940.6(SOX5):c.1583G>A (p.Ser528Asn)	SOX5 (S142N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686224	NM_006940.6(SOX5):c.1489-2A>G	SOX5	Single nucleotide variant (splice acceptor variant)	Lamb-Shaffer syndrome	GPathogenic
Select item 3033696	NM_006940.6(SOX5):c.1489-7T>G	SOX5	Single nucleotide variant (intron variant)	SOX5-related disorder	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 695080	NM_006940.6(SOX5):c.1465dup (p.Leu489fs)	SOX5 (L479fs +4 more)	Duplication (frameshift variant +1 more)	Lamb-Shaffer syndrome	GPathogenic
Select item 3167796	NM_006940.6(SOX5):c.1457G>A (p.Ser486Asn)	SOX5 (S476N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2629985	NM_006940.6(SOX5):c.1448T>C (p.Val483Ala)	SOX5 (V448A +4 more)	Single nucleotide variant (missense variant +1 more)	SOX5-related disorder	GUncertain significance
Select item 2629609	NM_006940.6(SOX5):c.1433A>T (p.Asp478Val)	SOX5 (D443V +4 more)	Single nucleotide variant (missense variant +1 more)	SOX5-related disorder	GUncertain significance
Select item 2859216	NM_006940.6(SOX5):c.1415G>A (p.Arg472Gln)	SOX5 (R437Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 695079	NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter)	SOX5 (R436* +4 more)	Single nucleotide variant (nonsense +1 more)	Lamb-Shaffer syndrome	GPathogenic
Select item 2330767	NM_006940.6(SOX5):c.1373A>G (p.Lys458Arg)	SOX5 (K445R +4 more)	Single nucleotide variant (missense variant +1 more)	SOX5-related disorder +1 more	GUncertain significance
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 1701192	NM_006940.6(SOX5):c.1346A>G (p.Tyr449Cys)	SOX5 (Y414C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1696460	NM_006940.6(SOX5):c.1343-4733C>T	SOX5	Single nucleotide variant (intron variant)	Lamb-Shaffer syndrome	GUncertain significance
Select item 3167795	NM_006940.6(SOX5):c.1340T>C (p.Ile447Thr)	SOX5 (I412T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 731319	NM_006940.6(SOX5):c.1308G>A (p.Ala436=)	SOX5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2436260	NM_006940.6(SOX5):c.1303G>T (p.Ala435Ser)	SOX5 (A400S +4 more)	Single nucleotide variant (missense variant +1 more)	Lamb-Shaffer syndrome	GUncertain significance
Select item 1710276	NM_006940.6(SOX5):c.1292C>T (p.Ala431Val)	SOX5 (A396V +4 more)	Single nucleotide variant (missense variant +1 more)	Lamb-Shaffer syndrome	GUncertain significance
Select item 2352289	NM_006940.6(SOX5):c.1280G>A (p.Gly427Asp)	SOX5 (G414D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1027694	NM_006940.6(SOX5):c.1280G>T (p.Gly427Val)	SOX5 (G41V +4 more)	Single nucleotide variant (missense variant +1 more)	Lamb-Shaffer syndrome	GUncertain significance
Select item 3167794	NM_006940.6(SOX5):c.1238C>T (p.Thr413Ile)	SOX5 (T400I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2314118	NM_006940.6(SOX5):c.1235C>T (p.Pro412Leu)	SOX5 (P26L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1033168	NM_006940.6(SOX5):c.1226C>A (p.Pro409His)	SOX5 (P399H +4 more)	Single nucleotide variant (missense variant +1 more)	Lamb-Shaffer syndrome	GUncertain significance
Select item 2578677	NM_006940.6(SOX5):c.1165-8709T>C	SOX5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3048347	NM_006940.6(SOX5):c.1164+6C>T	SOX5	Single nucleotide variant (intron variant)	SOX5-related disorder	GLikely benign
Select item 872102	NM_006940.6(SOX5):c.1164+2T>G	SOX5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1709432	NM_006940.6(SOX5):c.1136del (p.Ser379fs)	SOX5 (S344fs +3 more)	Deletion (frameshift variant)	Lamb-Shaffer syndrome	GPathogenic

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