ClinVar for Gene (Select 51083) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642045	NM_015973.5(GAL):c.315C>T (p.Leu105=)	GAL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2424412	NC_000011.9:g.(?_68197023)_(68458455_?)dup	GAL, LRP5 +1 more	Duplication	not provided	GUncertain significance
Select item 1807908	GRCh37/hg19 11q13.2-13.3(chr11:68246542-68515741)x3	GAL, PPP6R3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1412001	NC_000011.9:g.(?_68453042)_(68453136_?)del	GAL	Deletion	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 1285292	NM_015973.5(GAL):c.*15T>C	GAL	Single nucleotide variant (3 prime UTR variant)	Familial temporal lobe epilepsy 8	GBenign
Select item 1285291	NM_015973.5(GAL):c.301+16T>C	GAL	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 8	GBenign
Select item 1146014	NM_015973.5(GAL):c.42C>T (p.Leu14=)	GAL	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 8	GLikely benign
Select item 1140928	NM_015973.5(GAL):c.147C>G (p.Gly49=)	GAL	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 8	GLikely benign
Select item 1133243	NM_015973.5(GAL):c.141C>T (p.Ala47=)	GAL	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 8	GLikely benign
Select item 1123415	NM_015973.5(GAL):c.9A>C (p.Arg3=)	GAL	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 8	GLikely benign
Select item 1114290	NM_015973.5(GAL):c.81+8C>T	GAL	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 8	GLikely benign
Select item 1109721	NM_015973.5(GAL):c.309T>A (p.Gly103=)	GAL	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 8	GLikely benign
Select item 1051811	NM_015973.5(GAL):c.216G>A (p.Met72Ile)	GAL (M72I)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 1043494	NM_015973.5(GAL):c.263G>T (p.Arg88Leu)	GAL (R88L)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 1039520	NM_015973.5(GAL):c.200G>C (p.Arg67Pro)	GAL (R67P)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 1037569	NM_015973.5(GAL):c.13A>G (p.Ser5Gly)	GAL (S5G)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 1037453	NM_015973.5(GAL):c.7C>T (p.Arg3Ter)	GAL (R3*)	Single nucleotide variant (nonsense)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 1027299	NM_015973.5(GAL):c.223+3G>C	GAL	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 1021546	NM_015973.5(GAL):c.337G>A (p.Ala113Thr)	GAL (A113T)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 1018689	NM_015973.5(GAL):c.202C>T (p.Pro68Ser)	GAL (P68S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 999759	NM_015973.5(GAL):c.91A>G (p.Lys31Glu)	GAL (K31E)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 983369	NM_015973.5(GAL):c.316G>C (p.Asp106His)	GAL (D106H)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 969501	NM_015973.5(GAL):c.340G>A (p.Ala114Thr)	GAL (A114T)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 966590	NM_015973.5(GAL):c.77C>T (p.Ser26Leu)	GAL (S26L)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 956705	NM_015973.5(GAL):c.73_81+37del	GAL	Deletion (splice donor variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 951663	NM_015973.5(GAL):c.365G>A (p.Arg122Gln)	GAL (R122Q)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 940511	NM_015973.5(GAL):c.368C>T (p.Ser123Phe)	GAL (S123F)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8 +1 more	GUncertain significance
Select item 936741	NM_015973.5(GAL):c.37C>T (p.Leu13Phe)	GAL (L13F)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 931506	NM_015973.5(GAL):c.81+12G>A	GAL	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 872448	NM_015973.5(GAL):c.291G>T (p.Leu97Phe)	GAL (L97F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 864078	NM_015973.5(GAL):c.316G>A (p.Asp106Asn)	GAL (D106N)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 863573	NM_015973.5(GAL):c.191G>A (p.Arg64Gln)	GAL (R64Q)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 851392	NM_015973.5(GAL):c.311C>T (p.Ala104Val)	GAL (A104V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 851157	NM_015973.5(GAL):c.223+3G>A	GAL	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 850500	NM_015973.5(GAL):c.16G>A (p.Ala6Thr)	GAL (A6T)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 838372	NM_015973.5(GAL):c.28G>A (p.Ala10Thr)	GAL (A10T)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 837648	NM_015973.5(GAL):c.335C>G (p.Pro112Arg)	GAL (P112R)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 831647	NC_000011.10:g.(?_68684904)_(68691007_?)dup	GAL	Duplication	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 815438	GRCh37/hg19 11q13.2-13.3(chr11:68266294-68515741)x3	TESMIN, PPP6R3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 800277	NM_015973.5(GAL):c.142G>A (p.Val48Ile)	GAL (V48I)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GLikely benign
Select item 772106	NM_015973.5(GAL):c.339C>T (p.Ala113=)	GAL	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 8	GLikely benign
Select item 644385	NM_015973.5(GAL):c.166G>A (p.Asp56Asn)	GAL (D56N)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 642760	NM_015973.3(GAL):c.82del	GAL	Deletion	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 578366	NM_015973.5(GAL):c.137-2A>G	GAL	Single nucleotide variant (splice acceptor variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 574523	NM_015973.5(GAL):c.43G>A (p.Ala15Thr)	GAL (A15T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 571157	NM_015973.5(GAL):c.178C>T (p.Leu60Phe)	GAL (L60F)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8 +1 more	GUncertain significance
Select item 542528	NM_015973.5(GAL):c.177C>G (p.Gly59=)	GAL	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 8	GLikely benign
Select item 542527	NM_015973.5(GAL):c.253A>G (p.Asn85Asp)	GAL (N85D)	Single nucleotide variant (missense variant)	GAL-related condition +1 more	GLikely benign
Select item 542526	NM_015973.5(GAL):c.306C>T (p.Ala102=)	GAL	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 8	GLikely benign
Select item 542525	NM_015973.5(GAL):c.140C>T (p.Ala47Val)	GAL (A47V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 542524	NM_015973.5(GAL):c.199C>T (p.Arg67Trp)	GAL (R67W)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8 +1 more	GUncertain significance
Select item 475917	NM_015973.5(GAL):c.66G>A (p.Ala22=)	GAL	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 8	GLikely benign
Select item 475916	NM_015973.5(GAL):c.55T>C (p.Ser19Pro)	GAL (S19P)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GUncertain significance
Select item 475915	NM_015973.5(GAL):c.47C>T (p.Ala16Val)	GAL (A16V)	Single nucleotide variant (missense variant)	GAL-related condition +1 more	GBenign/Likely benign
Select item 475914	NM_015973.5(GAL):c.364C>T (p.Arg122Trp)	GAL (R122W)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GBenign
Select item 475913	NM_015973.5(GAL):c.361G>A (p.Glu121Lys)	GAL (E121K)	Single nucleotide variant (missense variant)	GAL-related condition +1 more	GBenign
Select item 475912	NM_015973.5(GAL):c.263G>A (p.Arg88His)	GAL (R88H)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8 +1 more	GUncertain significance
Select item 475911	NM_015973.5(GAL):c.205G>A (p.Glu69Lys)	GAL (E69K)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8 +1 more	GUncertain significance
Select item 475910	NM_015973.5(GAL):c.106C>T (p.Leu36=)	GAL	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 8	GLikely benign
Select item 442080	GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1	ANO1, C11orf24 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 372128	NM_015973.5(GAL):c.116C>A (p.Ala39Glu)	GAL (A39E)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GPathogenic
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	LOC130006238, LOC130006239 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 148930	GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3	LOC130006287, LOC130006288 +96 more	Copy number gain	See cases	GLikely benign
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 71