"ATP1A2-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 204883	NM_000702.4(ATP1A2):c.246C>G (p.Pro82=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 2629518	NM_000702.4(ATP1A2):c.262del (p.Val88fs)	ATP1A2 (V88fs)	Deletion (frameshift variant)	ATP1A2-related condition	GLikely pathogenic
Select item 293126	NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 3029764	NM_000702.4(ATP1A2):c.456C>T (p.Ser152=)	ATP1A2	Single nucleotide variant (synonymous variant)	ATP1A2-related condition	GLikely benign
Select item 391638	NM_000702.4(ATP1A2):c.513G>A (p.Arg171=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 413804	NM_000702.4(ATP1A2):c.600C>T (p.Asp200=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	ATP1A2-related condition +1 more	GLikely benign
Select item 588262	NM_000702.4(ATP1A2):c.712C>T (p.Arg238Cys)	ATP1A2, LOC126805890 (R238C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 453128	NM_000702.4(ATP1A2):c.736A>G (p.Asn246Asp)	ATP1A2, LOC126805890 (N246D)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2090882	NM_000702.4(ATP1A2):c.749-4G>A	ATP1A2	Single nucleotide variant (intron variant)	ATP1A2-related condition +1 more	GLikely benign
Select item 381259	NM_000702.4(ATP1A2):c.789G>A (p.Thr263=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 198746	NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln)	ATP1A2 (R279Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1253331	NM_000702.4(ATP1A2):c.888C>T (p.Val296=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine +2 more	GLikely benign
Select item 430293	NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr)	ATP1A2 (A297T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2629611	NM_000702.4(ATP1A2):c.970G>T (p.Gly324Cys)	ATP1A2 (G324C)	Single nucleotide variant (missense variant)	ATP1A2-related condition	GUncertain significance
Select item 377525	NM_000702.4(ATP1A2):c.987C>T (p.Asn329=)	ATP1A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2632702	NM_000702.4(ATP1A2):c.1112T>A (p.Ile371Asn)	ATP1A2 (I371N)	Single nucleotide variant (missense variant)	ATP1A2-related condition	GUncertain significance
Select item 136447	NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=)	ATP1A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +8 more	GBenign
Select item 2631443	NM_000702.4(ATP1A2):c.1216+1G>A	ATP1A2	Single nucleotide variant (splice donor variant)	ATP1A2-related condition	GLikely pathogenic
Select item 12928	NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met)	ATP1A2 (T415M)	Single nucleotide variant (missense variant)	ATP1A2-related condition +3 more	GUncertain significance
Select item 377528	NM_000702.4(ATP1A2):c.1251G>C (p.Thr417=)	ATP1A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 590168	NM_000702.4(ATP1A2):c.1332C>T (p.Asp444=)	ATP1A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2633583	NM_000702.4(ATP1A2):c.1417C>T (p.Pro473Ser)	ATP1A2 (P473S)	Single nucleotide variant (missense variant)	ATP1A2-related condition	GUncertain significance
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 204888	NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)	ATP1A2 (E492K)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +6 more	GConflicting classifications of pathogenicity
Select item 381674	NM_000702.4(ATP1A2):c.1581C>G (p.Leu527=)	ATP1A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 655681	NM_000702.4(ATP1A2):c.1735A>G (p.Lys579Glu)	ATP1A2 (K579E)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +2 more	GConflicting classifications of pathogenicity
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 +7 more	GBenign/Likely benign
Select item 449379	NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr)	ATP1A2 (A606T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +2 more	GPathogenic
Select item 698593	NM_000702.4(ATP1A2):c.2229C>T (p.Ala743=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine +1 more	GLikely benign
Select item 3033419	NM_000702.4(ATP1A2):c.2285-1G>A	ATP1A2	Single nucleotide variant (splice acceptor variant)	ATP1A2-related condition	GLikely pathogenic
Select item 1303059	NM_000702.4(ATP1A2):c.2287C>T (p.Arg763Cys)	ATP1A2 (R763C)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +2 more	GUncertain significance
Select item 2633258	NM_000702.4(ATP1A2):c.2439+3G>C	ATP1A2	Single nucleotide variant (intron variant)	ATP1A2-related condition	GUncertain significance
Select item 2630908	NM_000702.4(ATP1A2):c.2454_2456del (p.Leu819del)	ATP1A2 (L819del)	Deletion (inframe_deletion)	ATP1A2-related condition	GUncertain significance
Select item 3031373	NM_000702.4(ATP1A2):c.2496G>A (p.Gln832=)	ATP1A2	Single nucleotide variant (synonymous variant)	ATP1A2-related condition	GLikely benign
Select item 2085094	NM_000702.4(ATP1A2):c.2553C>T (p.Tyr851=)	ATP1A2	Single nucleotide variant (synonymous variant)	ATP1A2-related condition +1 more	GLikely benign
Select item 238168	NM_000702.4(ATP1A2):c.2636G>A (p.Arg879Gln)	ATP1A2 (R879Q)	Single nucleotide variant (missense variant)	ATP1A2-related condition +3 more	GLikely benign
Select item 3060496	NM_000702.4(ATP1A2):c.2787T>C (p.Ala929=)	ATP1A2	Single nucleotide variant (synonymous variant)	ATP1A2-related condition	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 37