"Ambry Genetics"[submitter] AND "SOX13"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35