477[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 147654	GRCh38/hg38 1q23.2(chr1:160059626-160217512)x3	ATP1A2, ATP1A4 +18 more	Copy number gain	See cases	GBenign
Select item 147554	GRCh38/hg38 1q23.2(chr1:160059626-160136196)x1	ATP1A2, IGSF8 +8 more	Copy number loss	See cases	GBenign
Select item 147553	GRCh38/hg38 1q23.2(chr1:160059626-160136196)x3	ATP1A2, IGSF8 +8 more	Copy number gain	See cases	GBenign
Select item 668000	NM_000702.3(ATP1A2):c.-371A>T	ATP1A2	Single nucleotide variant	not provided	GBenign
Select item 1200959	NC_000001.11:g.160115676_160115687del	ATP1A2	Deletion	not provided	GLikely benign
Select item 1200922	NC_000001.11:g.160115692G>C	ATP1A2	Single nucleotide variant	not provided	GLikely benign
Select item 876550	NM_000702.3(ATP1A2):c.-146G>A	ATP1A2	Single nucleotide variant	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 293123	NM_000702.4(ATP1A2):c.-70G>A	ATP1A2	Single nucleotide variant (5 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
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 510638	NM_000702.4(ATP1A2):c.-33C>A	ATP1A2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 512192	NM_000702.4(ATP1A2):c.-31C>G	ATP1A2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514472	NM_000702.4(ATP1A2):c.-30G>A	ATP1A2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 204882	NM_000702.4(ATP1A2):c.-14C>G	ATP1A2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1023702	NM_000702.4(ATP1A2):c.2T>C (p.Met1Thr)	ATP1A2 (M1T)	Single nucleotide variant (missense variant +1 more)	Familial hemiplegic migraine	GUncertain significance
Select item 1508728	NM_000702.4(ATP1A2):c.7C>T (p.Arg3Cys)	ATP1A2 (R3C)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 204902	NM_000702.4(ATP1A2):c.8G>A (p.Arg3His)	ATP1A2 (R3H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1932600	NM_000702.4(ATP1A2):c.10G>A (p.Gly4Arg)	ATP1A2 (G4R)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2752813	NM_000702.4(ATP1A2):c.12+1G>A	ATP1A2	Single nucleotide variant (splice donor variant)	Familial hemiplegic migraine	GLikely pathogenic
Select item 3064837	NM_000702.4(ATP1A2):c.12+2T>A	ATP1A2	Single nucleotide variant (splice donor variant)	Migraine, familial hemiplegic, 2	GLikely pathogenic
Select item 1514709	NM_000702.4(ATP1A2):c.12+3G>A	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 1508823	NM_000702.4(ATP1A2):c.12+6T>C	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2051120	NM_000702.4(ATP1A2):c.12+9C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2999733	NM_000702.4(ATP1A2):c.12+10C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2173275	NM_000702.4(ATP1A2):c.12+11C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2753678	NM_000702.4(ATP1A2):c.12+16del	ATP1A2	Deletion (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 1213194	NM_000702.4(ATP1A2):c.12+80G>T	ATP1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678200	NM_000702.4(ATP1A2):c.12+205A>C	ATP1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668017	NM_000702.4(ATP1A2):c.12+292A>C	ATP1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180274	NM_000702.4(ATP1A2):c.13-237T>G	ATP1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670739	NM_000702.4(ATP1A2):c.13-22T>C	ATP1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 98 +4 more	GBenign
Select item 2709828	NM_000702.4(ATP1A2):c.13-20G>C	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 1637810	NM_000702.4(ATP1A2):c.13-20G>A	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2889492	NM_000702.4(ATP1A2):c.13-19C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GBenign
Select item 1221025	NM_000702.4(ATP1A2):c.13-15_13-12del	ATP1A2	Deletion (intron variant)	not provided	GBenign
Select item 204880	NM_000702.4(ATP1A2):c.13-13del	ATP1A2	Deletion (intron variant)	not specified	GBenign
Select item 166705	NM_000702.4(ATP1A2):c.13-11_13-8del	ATP1A2	Deletion (intron variant)	Migraine, familial hemiplegic, 2 +6 more	GBenign
Select item 1224680	NM_000702.4(ATP1A2):c.13-11T>C	ATP1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2874412	NM_000702.4(ATP1A2):c.13-8T>A	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 933537	NM_000702.4(ATP1A2):c.13-6C>A	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2998236	NM_000702.4(ATP1A2):c.13-5C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 1133332	NM_000702.4(ATP1A2):c.13-4T>G	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2118247	NM_000702.4(ATP1A2):c.13G>T (p.Ala5Ser)	ATP1A2 (A5S)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 853875	NM_000702.4(ATP1A2):c.19C>G (p.Arg7Gly)	ATP1A2 (R7G)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 588060	NM_000702.4(ATP1A2):c.19C>T (p.Arg7Cys)	ATP1A2 (R7C)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 1503799	NM_000702.4(ATP1A2):c.20G>C (p.Arg7Pro)	ATP1A2 (R7P)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 1462397	NM_000702.4(ATP1A2):c.20G>A (p.Arg7His)	ATP1A2 (R7H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1632814	NM_000702.4(ATP1A2):c.21T>A (p.Arg7=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 871960	NM_000702.4(ATP1A2):c.24G>A (p.Glu8=)	ATP1A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 204881	NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn)	ATP1A2 (Y9N)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +7 more	GBenign/Likely benign
Select item 432321	NM_000702.4(ATP1A2):c.29C>T (p.Ser10Leu)	ATP1A2 (S10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795620	NM_000702.4(ATP1A2):c.36C>G (p.Ala12=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 381382	NM_000702.4(ATP1A2):c.36C>T (p.Ala12=)	ATP1A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 446874	NM_000702.4(ATP1A2):c.37G>A (p.Ala13Thr)	ATP1A2 (A13T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +3 more	GUncertain significance
Select item 2133029	NM_000702.4(ATP1A2):c.38C>T (p.Ala13Val)	ATP1A2 (A13V)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 392896	NM_000702.4(ATP1A2):c.44C>T (p.Thr15Met)	ATP1A2 (T15M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 873681	NM_000702.4(ATP1A2):c.45G>A (p.Thr15=)	ATP1A2	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 1 +2 more	GConflicting classifications of pathogenicity
Select item 2420169	NM_000702.4(ATP1A2):c.46G>A (p.Ala16Thr)	ATP1A2 (A16T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 204900	NM_000702.4(ATP1A2):c.56G>T (p.Gly19Val)	ATP1A2 (G19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721642	NM_000702.4(ATP1A2):c.57G>A (p.Gly19=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2639492	NM_000702.4(ATP1A2):c.57G>T (p.Gly19=)	ATP1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 576811	NM_000702.4(ATP1A2):c.58G>A (p.Gly20Ser)	ATP1A2 (G20S)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 1307515	NM_000702.4(ATP1A2):c.59G>A (p.Gly20Asp)	ATP1A2 (G20D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1655904	NM_000702.4(ATP1A2):c.60C>T (p.Gly20=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 1021525	NM_000702.4(ATP1A2):c.61G>A (p.Gly21Ser)	ATP1A2 (G21S)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GLikely benign
Select item 863661	NM_000702.4(ATP1A2):c.67A>G (p.Lys23Glu)	ATP1A2 (K23E)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 1133999	NM_000702.4(ATP1A2):c.75G>A (p.Gln25=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2896455	NM_000702.4(ATP1A2):c.91G>A (p.Asp31Asn)	ATP1A2 (D31N)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2746109	NM_000702.4(ATP1A2):c.96G>A (p.Glu32=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 951003	NM_000702.4(ATP1A2):c.106G>A (p.Glu36Lys)	ATP1A2 (E36K)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 511793	NM_000702.4(ATP1A2):c.108G>A (p.Glu36=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 293124	NM_000702.4(ATP1A2):c.111G>A (p.Val37=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine +2 more	GUncertain significance
Select item 953860	NM_000702.4(ATP1A2):c.112G>A (p.Ala38Thr)	ATP1A2 (A38T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 446868	NM_000702.4(ATP1A2):c.117+1G>A	ATP1A2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 969561	NM_000702.4(ATP1A2):c.117+3G>A	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2701256	NM_000702.4(ATP1A2):c.117+19C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 1215341	NM_000702.4(ATP1A2):c.117+83G>A	ATP1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955567	NM_000702.4(ATP1A2):c.118-19C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2795829	NM_000702.4(ATP1A2):c.118-18T>C	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 625279	NM_000702.4(ATP1A2):c.118-12T>A	ATP1A2	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 1671270	NM_000702.4(ATP1A2):c.126C>T (p.His42=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 204909	NM_000702.4(ATP1A2):c.128A>G (p.Lys43Arg)	ATP1A2 (K43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484261	NM_000702.4(ATP1A2):c.129G>C (p.Lys43Asn)	ATP1A2 (K43N)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 128478	NM_000702.4(ATP1A2):c.129G>A (p.Lys43=)	ATP1A2	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 1 +7 more	GBenign
Select item 1047006	NM_000702.4(ATP1A2):c.133T>A (p.Ser45Thr)	ATP1A2 (S45T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 660927	NM_000702.4(ATP1A2):c.149G>T (p.Gly50Val)	ATP1A2 (G50V)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 841998	NM_000702.4(ATP1A2):c.151C>T (p.Arg51Cys)	ATP1A2 (R51C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 372793	NM_000702.4(ATP1A2):c.152G>A (p.Arg51His)	ATP1A2 (R51H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 204901	NM_000702.4(ATP1A2):c.152G>T (p.Arg51Leu)	ATP1A2 (R51L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2147896	NM_000702.4(ATP1A2):c.158A>G (p.Tyr53Cys)	ATP1A2 (Y53C)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 763482	NM_000702.4(ATP1A2):c.159C>T (p.Tyr53=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2779651	NM_000702.4(ATP1A2):c.160C>A (p.Gln54Lys)	ATP1A2 (Q54K)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2257826	NM_000702.4(ATP1A2):c.163G>T (p.Val55Leu)	ATP1A2 (V55L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2038596	NM_000702.4(ATP1A2):c.168C>T (p.Asp56=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2187423	NM_000702.4(ATP1A2):c.170T>C (p.Leu57Pro)	ATP1A2 (L57P)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 1554412	NM_000702.4(ATP1A2):c.171G>C (p.Leu57=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2755345	NM_000702.4(ATP1A2):c.172T>A (p.Ser58Thr)	ATP1A2 (S58T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2142253	NM_000702.4(ATP1A2):c.174C>T (p.Ser58=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign

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