11203[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 148466	GRCh38/hg38 16p13.3(chr16:742199-1019543)x1	CEROX1, CHTF18 +18 more	Copy number loss	See cases	GUncertain significance
Select item 154698	GRCh38/hg38 16p13.3(chr16:752357-1064093)x1	CEROX1, CHTF18 +21 more	Copy number loss	See cases	GUncertain significance
Select item 154391	GRCh38/hg38 16p13.3(chr16:925267-1324901)x3	C1QTNF8, CACNA1H +27 more	Copy number gain	See cases	GUncertain significance
Select item 152585	GRCh38/hg38 16p13.3(chr16:979282-985951)x3	CEROX1, LMF1 +1 more	Copy number gain	See cases	GLikely benign
Select item 151632	GRCh38/hg38 16p13.3(chr16:979282-985586)x3	CEROX1, LMF1 +1 more	Copy number gain	See cases	GBenign
Select item 145964	GRCh38/hg38 16p13.3(chr16:979282-1005769)x3	CEROX1, LMF1 +2 more	Copy number gain	See cases	GLikely pathogenic
Select item 2623668	NM_014587.5(SOX8):c.18G>T (p.Glu6Asp)	SOX8 (E6D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645867	NM_014587.5(SOX8):c.32C>T (p.Pro11Leu)	SOX8 (P11L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 713378	NM_014587.5(SOX8):c.42C>T (p.Ser14=)	SOX8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2329088	NM_014587.5(SOX8):c.85G>C (p.Asp29His)	SOX8 (D29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372098	NM_014587.5(SOX8):c.89C>T (p.Ser30Leu)	SOX8 (S30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270988	NM_014587.5(SOX8):c.128G>A (p.Gly43Asp)	SOX8 (G43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352387	NM_014587.5(SOX8):c.138G>A (p.Gly46=)	SOX8	Single nucleotide variant (synonymous variant)	SOX8-related disorder	GLikely benign
Select item 2645868	NM_014587.5(SOX8):c.147G>T (p.Val49=)	SOX8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2495959	NM_014587.5(SOX8):c.152G>T (p.Gly51Val)	SOX8 (G51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262974	NM_014587.5(SOX8):c.160G>A (p.Gly54Ser)	SOX8 (G54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233896	NM_014587.5(SOX8):c.164A>C (p.Asp55Ala)	SOX8 (D55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167820	NM_014587.5(SOX8):c.182A>G (p.Asp61Gly)	SOX8 (D61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531604	NM_014587.5(SOX8):c.188G>C (p.Arg63Pro)	SOX8 (R63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167821	NM_014587.5(SOX8):c.197C>T (p.Ala66Val)	SOX8 (A66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645869	NM_014587.5(SOX8):c.241T>A (p.Trp81Arg)	SOX8 (W81R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3321664	NM_014587.5(SOX8):c.257T>C (p.Met86Thr)	SOX8 (M86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749981	NM_014587.5(SOX8):c.273C>T (p.Gly91=)	SOX8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035417	NM_014587.5(SOX8):c.375G>A (p.Pro125=)	SOX8	Single nucleotide variant (synonymous variant)	SOX8-related disorder	GLikely benign
Select item 3033626	NM_014587.5(SOX8):c.422+9C>G	SOX8	Single nucleotide variant (intron variant)	SOX8-related disorder	GBenign
Select item 752587	NM_014587.5(SOX8):c.435G>A (p.Glu145=)	SOX8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2511357	NM_014587.5(SOX8):c.446G>A (p.Arg149Gln)	SOX8 (R149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474952	NM_014587.5(SOX8):c.457G>C (p.Glu153Gln)	SOX8 (E153Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 915901	NM_014587.5(SOX8):c.468G>C (p.Glu156Asp)	SOX8 (E156D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645870	NM_014587.5(SOX8):c.594C>T (p.Gly198=)	SOX8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3346956	NM_014587.5(SOX8):c.605A>G (p.Tyr202Cys)	SOX8 (Y202C)	Single nucleotide variant (missense variant)	SOX8-related disorder	GUncertain significance
Select item 2613852	NM_014587.5(SOX8):c.644G>A (p.Gly215Asp)	SOX8 (G215D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590548	NM_014587.5(SOX8):c.649C>A (p.His217Asn)	SOX8 (H217N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154570	GRCh38/hg38 16p13.3(chr16:984540-986105)x3	SOX8	Copy number gain	See cases	GBenign
Select item 2645871	NM_014587.5(SOX8):c.665A>G (p.His222Arg)	SOX8 (H222R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2524132	NM_014587.5(SOX8):c.670C>T (p.Pro224Ser)	SOX8 (P224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429363	NM_014587.5(SOX8):c.676A>C (p.Thr226Pro)	SOX8 (T226P)	Single nucleotide variant (missense variant)	46,XY disorder of sex development	GUncertain significance
Select item 3037837	NM_014587.5(SOX8):c.681G>C (p.Pro227=)	SOX8	Single nucleotide variant (synonymous variant)	SOX8-related disorder	GLikely benign
Select item 1206145	NM_014587.5(SOX8):c.685A>C (p.Thr229Pro)	SOX8 (T229P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429357	NM_014587.5(SOX8):c.694A>C (p.Lys232Gln)	SOX8 (K232Q)	Single nucleotide variant (missense variant)	46,XY disorder of sex development	GUncertain significance
Select item 782343	NM_014587.5(SOX8):c.711G>A (p.Gln237=)	SOX8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2223678	NM_014587.5(SOX8):c.713C>T (p.Ala238Val)	SOX8 (A238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377605	NM_014587.5(SOX8):c.746G>A (p.Arg249His)	SOX8 (R249H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355898	NM_014587.5(SOX8):c.752C>T (p.Pro251Leu)	SOX8 (P251L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321663	NM_014587.5(SOX8):c.754G>C (p.Val252Leu)	SOX8 (V252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516227	NM_014587.5(SOX8):c.767G>A (p.Arg256His)	SOX8 (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167823	NM_014587.5(SOX8):c.790G>A (p.Val264Met)	SOX8 (V264M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787970	NM_014587.5(SOX8):c.801G>A (p.Ser267=)	SOX8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3321666	NM_014587.5(SOX8):c.805C>T (p.Leu269Phe)	SOX8 (L269F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645872	NM_014587.5(SOX8):c.813C>T (p.Ser271=)	SOX8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3047749	NM_014587.5(SOX8):c.876C>T (p.Gly292=)	SOX8	Single nucleotide variant (synonymous variant)	SOX8-related disorder	GLikely benign
Select item 3167824	NM_014587.5(SOX8):c.881C>T (p.Pro294Leu)	SOX8 (P294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056097	NM_014587.5(SOX8):c.885C>A (p.Ala295=)	SOX8	Single nucleotide variant (synonymous variant)	SOX8-related disorder	GBenign
Select item 3321667	NM_014587.5(SOX8):c.887C>T (p.Pro296Leu)	SOX8 (P296L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2645873	NM_014587.5(SOX8):c.891C>T (p.Pro297=)	SOX8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2552668	NM_014587.5(SOX8):c.908A>G (p.Tyr303Cys)	SOX8 (Y303C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321479	NM_014587.5(SOX8):c.909T>C (p.Tyr303=)	SOX8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2336446	NM_014587.5(SOX8):c.928G>T (p.Ala310Ser)	SOX8 (A310S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3035204	NM_014587.5(SOX8):c.978G>A (p.Ala326=)	SOX8	Single nucleotide variant (synonymous variant)	SOX8-related disorder	GLikely benign
Select item 2528652	NM_014587.5(SOX8):c.992C>G (p.Thr331Arg)	SOX8 (T331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167825	NM_014587.5(SOX8):c.997C>G (p.Pro333Ala)	SOX8 (P333A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321662	NM_014587.5(SOX8):c.1004G>A (p.Arg335Gln)	SOX8 (R335Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060687	NM_014587.5(SOX8):c.1032C>T (p.Ser344=)	SOX8	Single nucleotide variant (synonymous variant)	SOX8-related disorder	GBenign
Select item 3167817	NM_014587.5(SOX8):c.1087G>A (p.Gly363Ser)	SOX8 (G363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273184	NM_014587.5(SOX8):c.1111G>A (p.Ala371Thr)	SOX8 (A371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255346	NM_014587.5(SOX8):c.1112C>T (p.Ala371Val)	SOX8 (A371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606900	NM_014587.5(SOX8):c.1114C>T (p.Pro372Ser)	SOX8 (P372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714679	NM_014587.5(SOX8):c.1117G>T (p.Ala373Ser)	SOX8 (A373S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3053788	NM_014587.5(SOX8):c.1128C>T (p.Phe376=)	SOX8	Single nucleotide variant (synonymous variant)	SOX8-related disorder	GLikely benign
Select item 2645874	NM_014587.5(SOX8):c.1129G>A (p.Ala377Thr)	SOX8 (A377T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2589901	NM_014587.5(SOX8):c.1163C>T (p.Ala388Val)	SOX8 (A388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167818	NM_014587.5(SOX8):c.1195G>A (p.Ala399Thr)	SOX8 (A399T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057149	NM_014587.5(SOX8):c.1200C>T (p.Pro400=)	SOX8	Single nucleotide variant (synonymous variant)	SOX8-related disorder	GBenign
Select item 776958	NM_014587.5(SOX8):c.1203C>T (p.Gly401=)	SOX8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2597642	NM_014587.5(SOX8):c.1229C>T (p.Ser410Leu)	SOX8 (S410L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042602	NM_014587.5(SOX8):c.1233G>A (p.Pro411=)	SOX8	Single nucleotide variant (synonymous variant)	SOX8-related disorder	GLikely benign
Select item 2320732	NM_014587.5(SOX8):c.1238G>A (p.Arg413Gln)	SOX8 (R413Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369363	NM_014587.5(SOX8):c.1282G>T (p.Ala428Ser)	SOX8 (A428S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3035751	NM_014587.5(SOX8):c.1284C>T (p.Ala428=)	SOX8	Single nucleotide variant (synonymous variant)	SOX8-related disorder	GLikely benign
Select item 3167819	NM_014587.5(SOX8):c.1291C>T (p.Pro431Ser)	SOX8 (P431S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347268	NM_014587.5(SOX8):c.1305G>T (p.Trp435Cys)	SOX8 (W435C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2684771	GRCh37/hg19 16p13.3(chr16:898328-1349091)x3	C1QTNF8, CACNA1H +7 more	Copy number gain	not provided	GUncertain significance

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