ClinVar for MedGen (Select 1794227) - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234965	NM_000702.4(ATP1A2):c.589G>T (p.Val197Phe)	ATP1A2, LOC126805890 (V197F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 98	GUncertain significance
Select item 3234873	NM_000702.4(ATP1A2):c.2942+7G>C	ATP1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 98	GUncertain significance
Select item 3068468	NM_000702.4(ATP1A2):c.1021T>C (p.Cys341Arg)	ATP1A2 (C341R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 98	GLikely pathogenic
Select item 2779651	NM_000702.4(ATP1A2):c.160C>A (p.Gln54Lys)	ATP1A2 (Q54K)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 2430257	NM_000702.4(ATP1A2):c.1022G>A (p.Cys341Tyr)	ATP1A2 (C341Y)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +1 more	GLikely pathogenic
Select item 1705641	NM_000702.4(ATP1A2):c.1408_1409del (p.Asp470fs)	ATP1A2 (D470fs)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy 98	GUncertain significance
Select item 1526131	NM_000702.4(ATP1A2):c.2387C>T (p.Pro796Leu)	ATP1A2 (P796L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 98 +1 more	GUncertain significance
Select item 1291207	NM_000702.4(ATP1A2):c.3034+61G>A	ATP1A2	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 2 +5 more	GBenign
Select item 1291203	NM_000702.4(ATP1A2):c.177+95T>C	ATP1A2	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 1 +5 more	GBenign
Select item 1285386	NM_000702.4(ATP1A2):c.2709+26G>A	ATP1A2	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 1 +4 more	GBenign
Select item 1271154	NM_000702.4(ATP1A2):c.382-85G>A	ATP1A2	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +5 more	GBenign
Select item 1266851	NM_000702.4(ATP1A2):c.1651+49C>T	ATP1A2	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 2 +4 more	GBenign
Select item 1256582	NM_000702.4(ATP1A2):c.588C>T (p.Arg196=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 1216390	NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln)	ATP1A2 (R908Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1197187	NM_000702.4(ATP1A2):c.178-21C>T	ATP1A2	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 1 +4 more	GBenign/Likely benign
Select item 1192341	NM_000702.4(ATP1A2):c.1326+49dup	ATP1A2	Duplication (intron variant)	Alternating hemiplegia of childhood 1 +5 more	GBenign
Select item 1182107	NM_000702.4(ATP1A2):c.2943-47C>G	ATP1A2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1178924	NM_000702.4(ATP1A2):c.2943-27G>C	ATP1A2	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +5 more	GBenign
Select item 874811	NM_000702.4(ATP1A2):c.*15G>A	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Developmental and epileptic encephalopathy 98 +4 more	GBenign/Likely benign
Select item 674717	NM_000702.4(ATP1A2):c.495+96G>A	ATP1A2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 670756	NM_000702.4(ATP1A2):c.1017+56G>A	ATP1A2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 670755	NM_000702.4(ATP1A2):c.748+84T>A	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 670754	NM_000702.4(ATP1A2):c.495+81T>A	ATP1A2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 670740	NM_000702.4(ATP1A2):c.495+65T>C	ATP1A2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 670739	NM_000702.4(ATP1A2):c.13-22T>C	ATP1A2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 590133	NM_000702.4(ATP1A2):c.969C>T (p.Ile323=)	ATP1A2	Single nucleotide variant (synonymous variant)	Migraine, familial hemiplegic, 2 +5 more	GBenign/Likely benign
Select item 570135	NM_000702.4(ATP1A2):c.1550C>A (p.Thr517Asn)	ATP1A2 (T517N)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 516526	NM_000702.4(ATP1A2):c.660G>A (p.Ser220=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 509169	NM_000702.4(ATP1A2):c.631-16A>G	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 98 +5 more	GBenign/Likely benign
Select item 507066	NM_000702.4(ATP1A2):c.2116-14C>T	ATP1A2	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +5 more	GBenign/Likely benign
Select item 493055	NM_000702.4(ATP1A2):c.1096G>A (p.Gly366Ser)	ATP1A2 (G366S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 98 +1 more	GLikely pathogenic
Select item 460306	NM_000702.4(ATP1A2):c.471T>C (p.Asp157=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 460300	NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 446871	NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg)	ATP1A2 (G855R)	Single nucleotide variant (missense variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +5 more	GPathogenic
Select item 421446	NM_000702.4(ATP1A2):c.1326+8del	ATP1A2	Deletion (intron variant)	Familial hemiplegic migraine +5 more	GBenign/Likely benign
Select item 406194	NM_000702.4(ATP1A2):c.1262G>A (p.Arg421Gln)	ATP1A2 (R421Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 385689	NM_000702.4(ATP1A2):c.2564-8A>G	ATP1A2	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +5 more	GBenign/Likely benign
Select item 384176	NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg)	ATP1A2 (T620R)	Single nucleotide variant (missense variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +5 more	GUncertain significance
Select item 383452	NM_000702.4(ATP1A2):c.1022G>T (p.Cys341Phe)	ATP1A2 (C341F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 377530	NM_000702.4(ATP1A2):c.1761T>C (p.Ser587=)	ATP1A2	Single nucleotide variant (synonymous variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +6 more	GBenign/Likely benign
Select item 377529	NM_000702.4(ATP1A2):c.1470C>T (p.Ile490=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine +7 more	GBenign/Likely benign
Select item 377527	NM_000702.4(ATP1A2):c.1203C>T (p.Thr401=)	ATP1A2	Single nucleotide variant (synonymous variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +6 more	GBenign/Likely benign
Select item 377526	NM_000702.4(ATP1A2):c.1104G>A (p.Thr368=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 373628	NM_000702.4(ATP1A2):c.1097G>C (p.Gly366Ala)	ATP1A2 (G366A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 293162	NM_000702.4(ATP1A2):c.*1095T>A	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Migraine, familial hemiplegic, 2 +4 more	GBenign
Select item 293160	NM_000702.4(ATP1A2):c.*1026A>G	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Migraine, familial hemiplegic, 2 +4 more	GBenign
Select item 293154	NM_000702.4(ATP1A2):c.*748C>T	ATP1A2	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign
Select item 293153	NM_000702.4(ATP1A2):c.*746C>T	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +4 more	GBenign
Select item 293152	NM_000702.4(ATP1A2):c.*703G>A	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +4 more	GBenign
Select item 293137	NM_000702.4(ATP1A2):c.*72G>A	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Migraine, familial hemiplegic, 2 +4 more	GBenign
Select item 293134	NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 293132	NM_000702.4(ATP1A2):c.1572G>A (p.Glu524=)	ATP1A2	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 1 +4 more	GBenign/Likely benign
Select item 293126	NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 256764	NM_000702.4(ATP1A2):c.3034+14C>T	ATP1A2	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +6 more	GBenign
Select item 256763	NM_000702.4(ATP1A2):c.1652-11C>G	ATP1A2	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +6 more	GBenign
Select item 204898	NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys)	ATP1A2 (M813K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 98 +1 more	GPathogenic/Likely pathogenic
Select item 204889	NM_000702.4(ATP1A2):c.1501G>A (p.Val501Met)	ATP1A2 (V501M)	Single nucleotide variant (missense variant)	not provided +5 more	GLikely benign
Select item 204883	NM_000702.4(ATP1A2):c.246C>G (p.Pro82=)	ATP1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 98 +6 more	GBenign/Likely benign
Select item 204881	NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn)	ATP1A2 (Y9N)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 204877	NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 204876	NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=)	ATP1A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 204875	NM_000702.4(ATP1A2):c.2841-20dup	ATP1A2	Duplication (intron variant)	not specified +5 more	GBenign
Select item 204871	NM_000702.4(ATP1A2):c.1317C>T (p.Ser439=)	ATP1A2	Single nucleotide variant (synonymous variant)	Migraine, familial hemiplegic, 2 +5 more	GBenign/Likely benign
Select item 197163	NM_000702.4(ATP1A2):c.381+16C>T	ATP1A2	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 1 +6 more	GBenign
Select item 197162	NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu)	ATP1A2 (R65L)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +5 more	GConflicting classifications of pathogenicity
Select item 166705	NM_000702.4(ATP1A2):c.13-11_13-8del	ATP1A2	Deletion (intron variant)	Familial hemiplegic migraine +6 more	GBenign
Select item 136458	NM_000702.4(ATP1A2):c.-48C>G	ATP1A2	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy 98 +4 more	GBenign
Select item 136457	NM_000702.4(ATP1A2):c.2943-15C>T	ATP1A2	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 136456	NM_000702.4(ATP1A2):c.2937G>T (p.Pro979=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 136455	NM_000702.4(ATP1A2):c.2709+11C>T	ATP1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 98 +6 more	GBenign
Select item 136454	NM_000702.4(ATP1A2):c.2514G>A (p.Thr838=)	ATP1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 98 +5 more	GBenign/Likely benign
Select item 136453	NM_000702.4(ATP1A2):c.2284+18G>T	ATP1A2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 136452	NM_000702.4(ATP1A2):c.2115+14C>T	ATP1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 98 +5 more	GBenign
Select item 136451	NM_000702.4(ATP1A2):c.1652-7C>G	ATP1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 98 +5 more	GBenign
Select item 136450	NM_000702.4(ATP1A2):c.1652-7C>A	ATP1A2	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 136449	NM_000702.4(ATP1A2):c.1652-18C>A	ATP1A2	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 136448	NM_000702.4(ATP1A2):c.1128G>A (p.Thr376=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 136447	NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=)	ATP1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 98 +7 more	GBenign
Select item 128485	NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)	ATP1A2 (G114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 128484	NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=)	ATP1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 98 +6 more	GBenign
Select item 128483	NM_000702.4(ATP1A2):c.2563+4C>T	ATP1A2	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +6 more	GBenign
Select item 128481	NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=)	ATP1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 98 +7 more	GBenign
Select item 128480	NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=)	ATP1A2	Single nucleotide variant (synonymous variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +7 more	GBenign
Select item 128479	NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=)	ATP1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 98 +7 more	GBenign
Select item 128478	NM_000702.4(ATP1A2):c.129G>A (p.Lys43=)	ATP1A2	Single nucleotide variant (synonymous variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +7 more	GBenign
Select item 128477	NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=)	ATP1A2	Single nucleotide variant (synonymous variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +7 more	GBenign

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Items: 86