C1845070[trait identifier] AND "Invitae"[submitter] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417465	NC_000023.11:g.(?_100644166)_(100671299_?)del	LOC121627976, LOC125467769 +1 more	Deletion	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 533650	NM_014467.3(SRPX2):c.17C>T (p.Thr6Ile)	SRPX2 (T6I)	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 863684	NM_014467.3(SRPX2):c.99G>A (p.Pro33=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 533653	NM_014467.3(SRPX2):c.99G>T (p.Pro33=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
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 937859	NM_014467.3(SRPX2):c.117A>C (p.Glu39Asp)	SRPX2 (E39D)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 409285	NM_014467.3(SRPX2):c.160C>A (p.Arg54=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
Select item 409283	NM_014467.3(SRPX2):c.161G>A (p.Arg54Gln)	SRPX2 (R54Q)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	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 465067	NM_014467.3(SRPX2):c.174G>C (p.Trp58Cys)	SRPX2 (W58C)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 664168	NM_014467.3(SRPX2):c.202G>A (p.Glu68Lys)	SRPX2 (E68K)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	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 10776	NM_014467.3(SRPX2):c.215A>C (p.Tyr72Ser)	SRPX2 (Y72S)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 595782	NM_014467.3(SRPX2):c.221C>T (p.Pro74Leu)	SRPX2 (P74L)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GUncertain significance
Select item 207387	NM_014467.3(SRPX2):c.224A>T (p.Lys75Met)	SRPX2 (K75M)	Single nucleotide variant (missense variant)	not specified +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 207389	NM_014467.3(SRPX2):c.257G>A (p.Arg86His)	SRPX2 (R86H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 465068	NM_014467.3(SRPX2):c.305C>T (p.Ser102Leu)	SRPX2 (S102L)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 378669	NM_014467.3(SRPX2):c.323G>A (p.Ser108Asn)	SRPX2 (S108N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 465069	NM_014467.3(SRPX2):c.329G>A (p.Arg110His)	SRPX2 (R110H)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 753660	NM_014467.3(SRPX2):c.355+8G>T	SRPX2	Single nucleotide variant (intron 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 701952	NM_014467.3(SRPX2):c.369C>T (p.His123=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
Select item 948344	NM_014467.3(SRPX2):c.370G>A (p.Ala124Thr)	SRPX2 (A124T)	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 941335	NM_014467.3(SRPX2):c.431G>A (p.Arg144His)	SRPX2 (R144H)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 380310	NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe)	SRPX2 (S150F)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 139323	NM_014467.3(SRPX2):c.460C>G (p.His154Asp)	SRPX2 (H154D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 207371	NM_014467.3(SRPX2):c.481C>A (p.Arg161=)	SRPX2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
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)	Autism +1 more	GUncertain significance
Select item 390846	NM_014467.3(SRPX2):c.564C>T (p.His188=)	SRPX2	Single nucleotide variant (synonymous variant)	SRPX2-related condition +2 more	GLikely benign
Select item 945500	NM_014467.3(SRPX2):c.586C>A (p.Pro196Thr)	SRPX2 (P196T)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 95601	NM_014467.3(SRPX2):c.605G>A (p.Arg202Gln)	SRPX2 (R202Q)	Single nucleotide variant (missense variant)	not specified +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 284208	NM_014467.3(SRPX2):c.646G>A (p.Gly216Ser)	SRPX2 (G216S)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GConflicting classifications of pathogenicity
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 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 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 198562	NM_014467.3(SRPX2):c.693C>A (p.His231Gln)	SRPX2 (H231Q)	Single nucleotide variant (missense variant)	SRPX2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 648942	NM_014467.3(SRPX2):c.706G>C (p.Glu236Gln)	SRPX2 (E236Q)	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 845761	NM_014467.3(SRPX2):c.725C>G (p.Thr242Ser)	SRPX2 (T242S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 465070	NM_014467.3(SRPX2):c.732T>C (p.Tyr244=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
Select item 590220	NM_014467.3(SRPX2):c.737G>A (p.Arg246Gln)	SRPX2 (R246Q)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 465071	NM_014467.3(SRPX2):c.742T>C (p.Tyr248His)	SRPX2 (Y248H)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 207383	NM_014467.3(SRPX2):c.809C>T (p.Pro270Leu)	SRPX2 (P270L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 95602	NM_014467.3(SRPX2):c.840G>A (p.Ala280=)	SRPX2	Single nucleotide variant (synonymous variant)	SRPX2-related condition +3 more	GConflicting classifications of pathogenicity
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 207393	NM_014467.3(SRPX2):c.893G>A (p.Arg298His)	SRPX2 (R298H)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +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 198858	NM_014467.3(SRPX2):c.920A>G (p.Gln307Arg)	SRPX2 (Q307R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 207400	NM_014467.3(SRPX2):c.928C>T (p.Arg310Cys)	SRPX2 (R310C)	Single nucleotide variant (missense variant)	not specified +1 more	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 1041828	NM_014467.3(SRPX2):c.961+1G>A	SRPX2	Single nucleotide variant (splice donor variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +2 more	GUncertain significance
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 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 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 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 533652	NM_014467.3(SRPX2):c.982G>A (p.Val328Ile)	SRPX2 (V328I)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 583178	NM_014467.3(SRPX2):c.1011A>G (p.Gln337=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
Select item 409284	NM_014467.3(SRPX2):c.1028G>A (p.Arg343Gln)	SRPX2 (R343Q)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 207395	NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)	SRPX2 (L344I)	Single nucleotide variant (missense variant)	SRPX2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 972034	NM_014467.3(SRPX2):c.1046C>G (p.Ala349Gly)	SRPX2 (A349G)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	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 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 840631	NM_014467.3(SRPX2):c.1143G>A (p.Leu381=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 533651	NM_014467.3(SRPX2):c.1144G>A (p.Val382Met)	SRPX2 (V382M)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	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 139325	NM_014467.3(SRPX2):c.1218-6C>T	SRPX2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 590212	NM_014467.3(SRPX2):c.1221A>G (p.Gln407=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +1 more	GLikely benign
Select item 207386	NM_014467.3(SRPX2):c.1229G>A (p.Arg410His)	SRPX2 (R410H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 566880	NM_014467.3(SRPX2):c.1238G>A (p.Arg413His)	SRPX2 (R413H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 212309	NM_014467.3(SRPX2):c.1255G>A (p.Val419Met)	SRPX2 (V419M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 940180	NM_014467.3(SRPX2):c.1276A>G (p.Ile426Val)	SRPX2 (I426V)	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 465066	NM_014467.3(SRPX2):c.1289G>A (p.Arg430His)	SRPX2 (R430H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 139326	NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=)	SRPX2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely 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 574675	NM_014467.3(SRPX2):c.1313A>T (p.Glu438Val)	SRPX2 (E438V)	Single nucleotide variant (missense variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 756140	NM_014467.3(SRPX2):c.1365C>T (p.Thr455=)	SRPX2	Single nucleotide variant (synonymous variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GLikely benign
Select item 130374	NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln)	SRPX2 (R458Q)	Single nucleotide variant (missense variant)	SRPX2-related condition +3 more	GBenign/Likely 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 1375651	NC_000023.10:g.(?_99917153)_(100662891_?)dup	ARL13A, BTK +14 more	Duplication	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 833080	NC_000023.11:g.(?_100646303)_(100671007_?)dup	SRPX2	Duplication	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance

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Items: 86