"GeneDx"[submitter] AND "SRPX2"[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 1260803	NM_014467.3(SRPX2):c.-399G>C	SRPX2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 207385	NM_014467.3(SRPX2):c.-37A>G	SRPX2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1308311	NM_014467.3(SRPX2):c.23G>A (p.Arg8Lys)	SRPX2 (R8K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 677499	NM_014467.3(SRPX2):c.82+243C>T	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239134	NM_014467.3(SRPX2):c.83-100T>C	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 207398	NM_014467.3(SRPX2):c.127G>A (p.Glu43Lys)	SRPX2 (E43K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312330	NM_014467.3(SRPX2):c.160C>T (p.Arg54Ter)	SRPX2 (R54*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 139327	NM_014467.3(SRPX2):c.163+12T>C	SRPX2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1247373	NM_014467.3(SRPX2):c.163+291T>G	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217520	NM_014467.3(SRPX2):c.163+293G>T	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236829	NM_014467.3(SRPX2):c.164-217dup	SRPX2	Duplication (intron variant)	not provided	GBenign
Select item 1271515	NM_014467.3(SRPX2):c.164-217del	SRPX2	Deletion (intron variant)	not provided	GBenign
Select item 1191345	NM_014467.3(SRPX2):c.164-218_164-217del	SRPX2	Deletion (intron variant)	not provided	GLikely benign
Select item 1195006	NM_014467.3(SRPX2):c.164-234T>G	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300992	NM_014467.3(SRPX2):c.164-231T>G	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208023	NM_014467.3(SRPX2):c.164-158T>G	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294336	NM_014467.3(SRPX2):c.164-25G>T	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 207387	NM_014467.3(SRPX2):c.224A>T (p.Lys75Met)	SRPX2 (K75M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 207388	NM_014467.3(SRPX2):c.248T>C (p.Leu83Pro)	SRPX2 (L83P)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 207399	NM_014467.3(SRPX2):c.256C>T (p.Arg86Cys)	SRPX2 (R86C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207389	NM_014467.3(SRPX2):c.257G>A (p.Arg86His)	SRPX2 (R86H)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GLikely benign
Select item 207390	NM_014467.3(SRPX2):c.277C>T (p.Arg93Trp)	SRPX2 (R93W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 378669	NM_014467.3(SRPX2):c.323G>A (p.Ser108Asn)	SRPX2 (S108N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1295996	NM_014467.3(SRPX2):c.355+152C>A	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668969	NM_014467.3(SRPX2):c.356-295T>C	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229905	NM_014467.3(SRPX2):c.356-205C>A	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670790	NM_014467.3(SRPX2):c.356-38G>A	SRPX2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 380310	NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe)	SRPX2 (S150F)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +2 more	GLikely benign
Select item 139323	NM_014467.3(SRPX2):c.460C>G (p.His154Asp)	SRPX2 (H154D)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 207371	NM_014467.3(SRPX2):c.481C>A (p.Arg161=)	SRPX2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1199526	NM_014467.3(SRPX2):c.533-117T>C	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201728	NM_014467.3(SRPX2):c.533-30G>A	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 207391	NM_014467.3(SRPX2):c.533-1G>A	SRPX2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 390846	NM_014467.3(SRPX2):c.564C>T (p.His188=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GLikely benign
Select item 95601	NM_014467.3(SRPX2):c.605G>A (p.Arg202Gln)	SRPX2 (R202Q)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 378670	NM_014467.3(SRPX2):c.624G>A (p.Pro208=)	SRPX2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 207382	NM_014467.3(SRPX2):c.660-16del	SRPX2	Deletion (intron variant)	not specified	GBenign
Select item 198562	NM_014467.3(SRPX2):c.693C>A (p.His231Gln)	SRPX2 (H231Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 450679	NM_014467.3(SRPX2):c.718C>T (p.Arg240Cys)	SRPX2 (R240C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 207392	NM_014467.3(SRPX2):c.751G>A (p.Ala251Thr)	SRPX2 (A251T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 60351	GRCh38/hg38 Xq22.1(chrX:100665849-101051159)x2	ARL13A, CSTF2 +15 more	Copy number gain	See cases	GUncertain significance
Select item 667526	NM_014467.3(SRPX2):c.781+321G>A	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195765	NM_014467.3(SRPX2):c.782-189C>T	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676436	NM_014467.3(SRPX2):c.782-27C>T	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 207383	NM_014467.3(SRPX2):c.809C>T (p.Pro270Leu)	SRPX2 (P270L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 449135	NM_014467.3(SRPX2):c.817G>A (p.Gly273Ser)	SRPX2 (G273S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95602	NM_014467.3(SRPX2):c.840G>A (p.Ala280=)	SRPX2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 207393	NM_014467.3(SRPX2):c.893G>A (p.Arg298His)	SRPX2 (R298H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 696905	NM_014467.3(SRPX2):c.918T>C (p.Cys306=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GBenign
Select item 207400	NM_014467.3(SRPX2):c.928C>T (p.Arg310Cys)	SRPX2 (R310C)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GLikely benign
Select item 207394	NM_014467.3(SRPX2):c.943T>C (p.Ser315Pro)	SRPX2 (S315P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139324	NM_014467.3(SRPX2):c.961+12C>T	SRPX2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 510450	NM_014467.3(SRPX2):c.962-16C>T	SRPX2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 10775	NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)	SRPX2 (N327S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 199131	NM_014467.3(SRPX2):c.981C>G (p.Asn327Lys)	SRPX2 (N327K)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GUncertain significance
Select item 279903	NM_014467.3(SRPX2):c.1012T>A (p.Phe338Ile)	SRPX2 (F338I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205719	NM_014467.3(SRPX2):c.1016A>G (p.Tyr339Cys)	SRPX2 (Y339C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207395	NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)	SRPX2 (L344I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 514545	NM_014467.3(SRPX2):c.1064G>A (p.Arg355Gln)	SRPX2 (R355Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1201642	NM_014467.3(SRPX2):c.1095+237G>A	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201342	NM_014467.3(SRPX2):c.1095+276G>A	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258737	NM_014467.3(SRPX2):c.1096-119T>C	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504185	NM_014467.3(SRPX2):c.1099del (p.Ser367fs)	SRPX2 (S367fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1304612	NM_014467.3(SRPX2):c.1135A>G (p.Ile379Val)	SRPX2 (I379V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305037	NM_014467.3(SRPX2):c.1157C>T (p.Pro386Leu)	SRPX2 (P386L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451348	NM_014467.3(SRPX2):c.1165G>A (p.Val389Met)	SRPX2 (V389M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 207396	NM_014467.3(SRPX2):c.1177C>T (p.Arg393Trp)	SRPX2 (R393W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207384	NM_014467.3(SRPX2):c.1199A>G (p.Asn400Ser)	SRPX2 (N400S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 207397	NM_014467.3(SRPX2):c.1202T>C (p.Ile401Thr)	SRPX2 (I401T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1306855	NM_014467.3(SRPX2):c.1217+2T>A	SRPX2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1189908	NM_014467.3(SRPX2):c.1217+35G>C	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270659	NM_014467.3(SRPX2):c.1217+36G>C	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 139325	NM_014467.3(SRPX2):c.1218-6C>T	SRPX2	Single nucleotide variant (intron variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GBenign
Select item 207386	NM_014467.3(SRPX2):c.1229G>A (p.Arg410His)	SRPX2 (R410H)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 139326	NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +2 more	GBenign/Likely benign
Select item 130374	NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln)	SRPX2 (R458Q)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +2 more	GBenign/Likely benign
Select item 1186773	NM_014467.3(SRPX2):c.*60G>A	SRPX2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 94