ClinVar for Gene (Select 27286) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322677	NM_014467.3(SRPX2):c.1211A>C (p.Glu404Ala)	SRPX2 (E404A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246518	NC_000023.10:g.(?_99551275)_(100515610_?)dup	ARL13A, CENPI +11 more	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3170074	NM_014467.3(SRPX2):c.976G>A (p.Val326Ile)	SRPX2 (V326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170073	NM_014467.3(SRPX2):c.569G>A (p.Arg190His)	SRPX2 (R190H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170072	NM_014467.3(SRPX2):c.482G>A (p.Arg161Gln)	SRPX2 (R161Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170071	NM_014467.3(SRPX2):c.1281C>A (p.Asp427Glu)	SRPX2 (D427E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170070	NM_014467.3(SRPX2):c.1024C>G (p.Gln342Glu)	SRPX2 (Q342E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3069086	NM_014467.3(SRPX2):c.503G>A (p.Arg168Lys)	SRPX2 (R168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3033945	NM_014467.3(SRPX2):c.1179G>A (p.Arg393=)	SRPX2	Single nucleotide variant (synonymous variant)	SRPX2-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CPXCR1, MAGEE2 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685000	GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3	ARL13A, ARMCX1 +80 more	Copy number gain	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661036	NM_014467.3(SRPX2):c.585G>A (p.Glu195=)	SRPX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637288	NM_014467.3(SRPX2):c.883G>C (p.Gly295Arg)	SRPX2 (G295R)	Single nucleotide variant (missense variant)	SRPX2-related disorder	GUncertain significance
Select item 2573570	NM_014467.3(SRPX2):c.355+1G>C	SRPX2	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2436492	NM_014467.3(SRPX2):c.118G>A (p.Val40Ile)	SRPX2 (V40I)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 2428063	NM_014467.3(SRPX2):c.723C>T (p.Tyr241=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
Select item 2425021	NC_000023.10:g.(?_99551275)_(101097764_?)del	RPL36A, RPL36A-HNRNPH2 +25 more	Deletion	not provided	GPathogenic
Select item 2423943	NC_000023.10:g.(?_99551275)_(100099087_?)del	CSTF2, NOX1 +5 more	Deletion	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2422282	NC_000023.10:g.(?_99551275)_(101097764_?)dup	ARL13A, ARMCX1 +25 more	Duplication	Developmental and epileptic encephalopathy, 9 +1 more	GUncertain significance
Select item 2381017	NM_014467.3(SRPX2):c.568C>T (p.Arg190Cys)	SRPX2 (R190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315732	NM_014467.3(SRPX2):c.656C>T (p.Thr219Ile)	SRPX2 (T219I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2062916	NM_014467.3(SRPX2):c.207C>T (p.Ala69=)	SRPX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2057954	NM_014467.3(SRPX2):c.1396T>G (p.Ter466Gly)	SRPX2	Single nucleotide variant (stop lost)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1710248	NM_014467.3(SRPX2):c.659G>C (p.Arg220Thr)	SRPX2 (R220T)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1699075	NM_014467.3(SRPX2):c.49C>G (p.Leu17Val)	SRPX2 (L17V)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 1690468	NM_014467.3(SRPX2):c.359T>C (p.Met120Thr)	SRPX2 (M120T)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1526831	GRCh37/hg19 Xq22.1(chrX:99842716-100570618)	ARL13A, CENPI +11 more	Copy number gain	not specified	GUncertain significance
Select item 1526828	GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)	CSTF2, DIAPH2 +9 more	Copy number loss	not specified	GPathogenic
Select item 1421593	NM_014467.3(SRPX2):c.1133T>C (p.Ile378Thr)	SRPX2 (I378T)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 1375651	NC_000023.10:g.(?_99917153)_(100662891_?)dup	SYTL4, TAF7L +14 more	Duplication	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1340489	GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3	NXF2B, SYTL4 +38 more	Copy number gain	not provided	GUncertain significance
Select item 1338293	NM_014467.3(SRPX2):c.1393G>A (p.Glu465Lys)	SRPX2 (E465K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338290	NM_014467.3(SRPX2):c.671G>A (p.Arg224Gln)	SRPX2 (R224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335782	NM_014467.3(SRPX2):c.699C>T (p.Pro233=)	SRPX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1312330	NM_014467.3(SRPX2):c.160C>T (p.Arg54Ter)	SRPX2 (R54*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 1306855	NM_014467.3(SRPX2):c.1217+2T>A	SRPX2	Single nucleotide variant (splice donor 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 1304612	NM_014467.3(SRPX2):c.1135A>G (p.Ile379Val)	SRPX2 (I379V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300992	NM_014467.3(SRPX2):c.164-231T>G	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295996	NM_014467.3(SRPX2):c.355+152C>A	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294336	NM_014467.3(SRPX2):c.164-25G>T	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271515	NM_014467.3(SRPX2):c.164-217del	SRPX2	Deletion (intron variant)	not provided	GBenign
Select item 1270659	NM_014467.3(SRPX2):c.1217+36G>C	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260803	NM_014467.3(SRPX2):c.-399G>C	SRPX2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1258737	NM_014467.3(SRPX2):c.1096-119T>C	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247373	NM_014467.3(SRPX2):c.163+291T>G	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239134	NM_014467.3(SRPX2):c.83-100T>C	SRPX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236829	NM_014467.3(SRPX2):c.164-217dup	SRPX2	Duplication (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 1217520	NM_014467.3(SRPX2):c.163+293G>T	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209858	GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	BEX3, BEX4 +110 more	Copy number loss	Xq21.32q23 deletion	GPathogenic
Select item 1208023	NM_014467.3(SRPX2):c.164-158T>G	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1201728	NM_014467.3(SRPX2):c.533-30G>A	SRPX2	Single nucleotide variant (intron variant)	not provided	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 1199526	NM_014467.3(SRPX2):c.533-117T>C	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195765	NM_014467.3(SRPX2):c.782-189C>T	SRPX2	Single nucleotide variant (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 1191345	NM_014467.3(SRPX2):c.164-218_164-217del	SRPX2	Deletion (intron variant)	not provided	GLikely benign
Select item 1189908	NM_014467.3(SRPX2):c.1217+35G>C	SRPX2	Single nucleotide variant (intron variant)	not provided	GLikely 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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1131073	NM_014467.3(SRPX2):c.648T>C (p.Gly216=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
Select item 1130672	NM_014467.3(SRPX2):c.366C>T (p.Cys122=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
Select item 1118902	NM_014467.3(SRPX2):c.659+8_659+22del	SRPX2	Deletion (intron variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
Select item 1118300	NM_014467.3(SRPX2):c.1311C>T (p.Pro437=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
Select item 1108831	NM_014467.3(SRPX2):c.882C>T (p.Gly294=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
Select item 1090345	NM_014467.3(SRPX2):c.975C>T (p.Asn325=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
Select item 1086278	NM_014467.3(SRPX2):c.981C>T (p.Asn327=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
Select item 1051415	NM_014467.3(SRPX2):c.959C>T (p.Ala320Val)	SRPX2 (A320V)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 1044918	NM_014467.3(SRPX2):c.1288C>T (p.Arg430Cys)	SRPX2 (R430C)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 1041828	NM_014467.3(SRPX2):c.961+1G>A	SRPX2	Single nucleotide variant (splice donor variant)	SRPX2-related disorder +2 more	GUncertain significance
Select item 1038364	NM_014467.3(SRPX2):c.656C>G (p.Thr219Ser)	SRPX2 (T219S)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 1035311	NM_014467.3(SRPX2):c.112_163+10dup	SRPX2	Duplication (splice donor variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 1025666	NM_014467.3(SRPX2):c.553C>T (p.Arg185Cys)	SRPX2 (R185C)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GUncertain significance
Select item 1022758	NM_014467.3(SRPX2):c.554G>T (p.Arg185Leu)	SRPX2 (R185L)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GUncertain significance
Select item 1013627	NM_014467.3(SRPX2):c.1129A>G (p.Thr377Ala)	SRPX2 (T377A)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 1007485	NM_014467.3(SRPX2):c.371C>T (p.Ala124Val)	SRPX2 (A124V)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 1002630	NM_014467.3(SRPX2):c.57G>A (p.Pro19=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 980311	GRCh37/hg19 Xq22.1(chrX:99581496-100047228)x2	SRPX2, SYTL4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 980310	GRCh37/hg19 Xq22.1(chrX:99858343-100348232)x3	TRMT2B, SYTL4 +7 more	Copy number gain	not provided	GUncertain significance

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