11192[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 2552667	NM_005686.3(SOX13):c.20T>A (p.Ile7Asn)	SOX13 (I7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223202	NM_005686.3(SOX13):c.26C>T (p.Ala9Val)	SOX13 (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467462	NM_005686.3(SOX13):c.103G>A (p.Glu35Lys)	SOX13 (E35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390067	NM_005686.3(SOX13):c.157C>T (p.Arg53Trp)	SOX13 (R53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167719	NM_005686.3(SOX13):c.160G>A (p.Ala54Thr)	SOX13 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275848	NM_005686.3(SOX13):c.222C>A (p.Asp74Glu)	SOX13 (D74E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167723	NM_005686.3(SOX13):c.238G>T (p.Gly80Cys)	SOX13 (G80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536120	NM_005686.3(SOX13):c.293G>T (p.Ser98Ile)	SOX13 (S98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570059	NM_005686.3(SOX13):c.317G>A (p.Arg106Gln)	SOX13 (R106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321618	NM_005686.3(SOX13):c.488G>T (p.Arg163Leu)	SOX13 (R163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262265	NM_005686.3(SOX13):c.533C>T (p.Ala178Val)	SOX13 (A178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167724	NM_005686.3(SOX13):c.586G>C (p.Glu196Gln)	SOX13 (E196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167725	NM_005686.3(SOX13):c.598A>G (p.Lys200Glu)	SOX13 (K200E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339615	NM_005686.3(SOX13):c.629A>G (p.His210Arg)	SOX13 (H210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167726	NM_005686.3(SOX13):c.718C>T (p.Pro240Ser)	SOX13 (P240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167727	NM_005686.3(SOX13):c.801C>G (p.His267Gln)	SOX13 (H267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167728	NM_005686.3(SOX13):c.840G>A (p.Met280Ile)	SOX13 (M280I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335538	NM_005686.3(SOX13):c.961C>T (p.Arg321Cys)	SOX13 (R321C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374954	NM_005686.3(SOX13):c.983C>T (p.Pro328Leu)	SOX13 (P328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532865	NM_005686.3(SOX13):c.986C>T (p.Thr329Met)	SOX13 (T329M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321619	NM_005686.3(SOX13):c.989G>A (p.Arg330Gln)	SOX13 (R330Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215032	NM_005686.3(SOX13):c.1088G>A (p.Ser363Asn)	SOX13 (S363N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622433	NM_005686.3(SOX13):c.1137C>G (p.Asp379Glu)	SOX13 (D379E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167716	NM_005686.3(SOX13):c.1172G>A (p.Arg391Gln)	SOX13 (R391Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266994	NM_005686.3(SOX13):c.1225A>G (p.Met409Val)	SOX13 (M409V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2609775	NM_005686.3(SOX13):c.1369A>G (p.Ile457Val)	SOX13 (I457V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622620	NM_005686.3(SOX13):c.1430A>C (p.Gln477Pro)	SOX13 (Q477P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167717	NM_005686.3(SOX13):c.1435C>T (p.Arg479Trp)	SOX13 (R479W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167718	NM_005686.3(SOX13):c.1534G>A (p.Glu512Lys)	SOX13 (E512K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167720	NM_005686.3(SOX13):c.1723G>A (p.Val575Ile)	SOX13 (V575I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167721	NM_005686.3(SOX13):c.1745A>G (p.Glu582Gly)	SOX13 (E582G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167722	NM_005686.3(SOX13):c.1775C>T (p.Ser592Leu)	SOX13 (S592L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286037	NM_005686.3(SOX13):c.1799G>A (p.Arg600Gln)	SOX13 (R600Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371908	NM_005686.3(SOX13):c.1819T>G (p.Ser607Ala)	SOX13 (S607A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251401	NM_005686.3(SOX13):c.1840G>A (p.Asp614Asn)	SOX13 (D614N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 51