SOX30[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +294 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +279 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 2573119	NM_178424.2(SOX30):c.2234A>T (p.Glu745Val)	SOX30 (E440V +1 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 3167769	NM_178424.2(SOX30):c.2148T>G (p.Ile716Met)	SOX30 (I411M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599457	NM_178424.2(SOX30):c.2104C>A (p.His702Asn)	SOX30 (H702N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483322	NM_178424.2(SOX30):c.2074A>T (p.Asn692Tyr)	SOX30 (N692Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332360	NM_178424.2(SOX30):c.2030G>A (p.Ser677Asn)	SOX30 (S677N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167768	NM_178424.2(SOX30):c.1963A>G (p.Arg655Gly)	SOX30 (R350G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355397	NM_178424.2(SOX30):c.1935G>A (p.Met645Ile)	SOX30 (M645I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167767	NM_178424.2(SOX30):c.1897C>T (p.Arg633Trp)	SOX30 (R328W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515386	NM_178424.2(SOX30):c.1825A>G (p.Arg609Gly)	SOX30 (R609G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335309	NM_178424.2(SOX30):c.1783C>A (p.Pro595Thr)	SOX30 (P290T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348639	NM_178424.2(SOX30):c.1690C>G (p.Pro564Ala)	SOX30 (P259A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776099	NM_178424.2(SOX30):c.1688A>C (p.Gln563Pro)	SOX30 (Q258P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 712580	NM_178424.2(SOX30):c.1679C>T (p.Ser560Leu)	SOX30 (S255L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2390413	NM_178424.2(SOX30):c.1645A>G (p.Ser549Gly)	SOX30 (S244G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732955	NM_178424.2(SOX30):c.1619T>C (p.Leu540Pro)	SOX30 (L235P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 812722	NM_178424.2(SOX30):c.1550C>G (p.Ser517Cys)	SOX30 (S212C +1 more)	Single nucleotide variant (missense variant +1 more)	Male infertility	GLikely pathogenic
Select item 2330475	NM_178424.2(SOX30):c.1493A>G (p.Gln498Arg)	SOX30 (Q498R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167766	NM_178424.2(SOX30):c.1463G>C (p.Ser488Thr)	SOX30 (S183T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366658	NM_178424.2(SOX30):c.1458G>C (p.Gln486His)	SOX30 (Q486H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167765	NM_178424.2(SOX30):c.1418C>T (p.Thr473Ile)	SOX30 (T168I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257431	NM_178424.2(SOX30):c.1331C>T (p.Ser444Leu)	SOX30 (S139L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323595	NM_178424.2(SOX30):c.1259T>C (p.Val420Ala)	SOX30 (V420A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461286	NM_178424.2(SOX30):c.1257T>A (p.Ser419Arg)	SOX30 (S419R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656001	NM_178424.2(SOX30):c.1044A>G (p.Ala348=)	SOX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375607	NM_178424.2(SOX30):c.941C>T (p.Pro314Leu)	SOX30 (P314L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236288	NM_178424.2(SOX30):c.905T>G (p.Leu302Arg)	SOX30 (L302R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271360	NM_178424.2(SOX30):c.899C>T (p.Ser300Phe)	SOX30 (S300F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167773	NM_178424.2(SOX30):c.855A>C (p.Arg285Ser)	SOX30 (R285S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406597	NM_178424.2(SOX30):c.830G>A (p.Gly277Glu)	SOX30 (G277E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212491	NM_178424.2(SOX30):c.797C>G (p.Thr266Arg)	SOX30 (T266R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604567	NM_178424.2(SOX30):c.776G>A (p.Arg259Lys)	SOX30 (R259K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381367	NM_178424.2(SOX30):c.707T>C (p.Val236Ala)	SOX30 (V236A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381366	NM_178424.2(SOX30):c.704T>C (p.Leu235Pro)	SOX30 (L235P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275449	NM_178424.2(SOX30):c.614C>T (p.Ala205Val)	SOX30 (A205V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524637	NM_178424.2(SOX30):c.532T>C (p.Phe178Leu)	SOX30 (F178L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474169	NM_178424.2(SOX30):c.488C>T (p.Ser163Phe)	SOX30 (S163F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353703	NM_178424.2(SOX30):c.392T>G (p.Leu131Arg)	SOX30 (L131R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2348640	NM_178424.2(SOX30):c.367C>A (p.Pro123Thr)	SOX30 (P123T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222114	NM_178424.2(SOX30):c.367C>T (p.Pro123Ser)	SOX30 (P123S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 792018	NM_178424.2(SOX30):c.339G>C (p.Pro113=)	SOX30	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2313567	NM_178424.2(SOX30):c.274G>A (p.Ala92Thr)	SOX30 (A92T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542313	NM_178424.2(SOX30):c.271G>C (p.Ala91Pro)	SOX30 (A91P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598258	NM_178424.2(SOX30):c.265G>C (p.Glu89Gln)	SOX30 (E89Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226212	NM_178424.2(SOX30):c.256G>A (p.Ala86Thr)	SOX30 (A86T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167770	NM_178424.2(SOX30):c.250C>T (p.Pro84Ser)	SOX30 (P84S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708911	NM_178424.2(SOX30):c.198G>A (p.Ala66=)	SOX30	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2348692	NM_178424.2(SOX30):c.197C>T (p.Ala66Val)	SOX30 (A66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297823	NM_178424.2(SOX30):c.179C>G (p.Ala60Gly)	SOX30 (A60G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606899	NM_178424.2(SOX30):c.134C>A (p.Ala45Glu)	SOX30 (A45E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606898	NM_178424.2(SOX30):c.133G>A (p.Ala45Thr)	SOX30 (A45T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167772	NM_178424.2(SOX30):c.70G>C (p.Val24Leu)	SOX30 (V24L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214441	NM_178424.2(SOX30):c.38G>T (p.Arg13Leu)	SOX30 (R13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	ADAM19, ADRA1B +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563115	GRCh37/hg19 5q33.3(chr5:157075079-157134575)x1	C5orf52, SOX30	Copy number loss	not provided	GLikely benign
Select item 563114	GRCh37/hg19 5q33.3(chr5:156911673-157225044)x3	LSM11, C5orf52 +4 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 70