ClinVar for MedGen (Select 815307) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065802	NM_016529.6(ATP8A2):c.3334C>T (p.Arg1112Ter)	ATP8A2 (R1112* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 3064367	NM_016529.6(ATP8A2):c.1669C>T (p.Gln557Ter)	ATP8A2 (Q517* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 2688655	NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)	ATP8A2 (P879L +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 2628313	NM_016529.6(ATP8A2):c.1580-18C>G	ATP8A2	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 2579236	GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0	ATP8A2	Copy number loss	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 2499390	NM_016529.6(ATP8A2):c.1339G>A (p.Gly447Arg)	ATP8A2 (G407R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444321	NM_016529.6(ATP8A2):c.1272T>G (p.Tyr424Ter)	ATP8A2 (Y384* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 2439399	NM_016529.6(ATP8A2):c.-1016T>A	ATP8A2	Single nucleotide variant	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 2439398	NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)	ATP8A2 (P452A +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 2439397	NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)	ATP8A2 (V647F +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 2436153	NM_016529.6(ATP8A2):c.1322dup (p.Lys442fs)	ATP8A2 (K402fs +1 more)	Duplication (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 1805938	NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)	ATP8A2 (K604T +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 1804808	NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)	ATP8A2 (K883* +2 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 1526205	NM_016529.6(ATP8A2):c.518del (p.Gly173fs)	ATP8A2 (G133fs +1 more)	Deletion (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 1526185	NM_016529.6(ATP8A2):c.3273-3C>G	ATP8A2	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 1526029	NM_016529.6(ATP8A2):c.709del (p.Thr237fs)	ATP8A2 (T197fs +1 more)	Deletion (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 1339193	NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro)	ATP8A2 (A732P +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 1323981	NM_016529.6(ATP8A2):c.2212-1G>C	ATP8A2	Single nucleotide variant (splice acceptor variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 1323964	NM_016529.6(ATP8A2):c.3272+1G>A	ATP8A2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1323963	NM_016529.6(ATP8A2):c.1474-2del	ATP8A2	Deletion (splice acceptor variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 1301742	NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile)	ATP8A2 (M515I +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 1192489	NM_016529.6(ATP8A2):c.3184-88G>A	ATP8A2	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GBenign
Select item 1192488	NM_016529.6(ATP8A2):c.3183+95C>T	ATP8A2	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GBenign
Select item 1192487	NM_016529.6(ATP8A2):c.2384+55C>T	ATP8A2	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GBenign
Select item 1192486	NM_016529.6(ATP8A2):c.1185+71A>G	ATP8A2	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GBenign
Select item 1184354	NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln)	ATP8A2 (R619Q +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 +1 more	GUncertain significance
Select item 1168538	NM_016529.6(ATP8A2):c.2008-4G>C	ATP8A2	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 +1 more	GBenign
Select item 1033826	NM_016529.6(ATP8A2):c.77-2A>G	ATP8A2	Single nucleotide variant (splice acceptor variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 1029610	NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys)	ATP8A2 (Y248C +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 1029609	NM_016529.6(ATP8A2):c.3469+1G>C	ATP8A2	Single nucleotide variant (splice donor variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 1029608	NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)	ATP8A2 (R720* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 996952	NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val)	ATP8A2 (I901V +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 994318	NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=)	ATP8A2	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 +2 more	GBenign/Likely benign
Select item 976733	NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs)	ATP8A2 (L191fs +1 more)	Deletion (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 931002	NM_016529.6(ATP8A2):c.1058-2A>G	ATP8A2	Single nucleotide variant (splice acceptor variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 930222	NM_016529.6(ATP8A2):c.210del (p.Asp70fs)	ATP8A2 (D30fs +1 more)	Deletion (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 812083	NM_016529.6(ATP8A2):c.1868-2A>G	ATP8A2	Single nucleotide variant (splice acceptor variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 812081	NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val)	ATP8A2 (M398V +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 812080	NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His)	ATP8A2 (D785H +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 802914	NM_016529.6(ATP8A2):c.2655del (p.Asn886fs)	ATP8A2 (N846fs +1 more)	Deletion (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 800921	NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp)	ATP8A2 (N917D)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 800920	NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)	ATP8A2 (R541* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 800507	NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter)	ATP8A2 (Y639* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 548590	NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp)	ATP8A2 (R1147W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 547903	NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val)	ATP8A2 (A53V +1 more)	Single nucleotide variant (missense variant)	ATP8A2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 522654	NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln)	ATP8A2 (R738Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 522073	NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs)	ATP8A2 (R548fs +1 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 431717	NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr)	ATP8A2 (A897T)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 429349	NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter)	ATP8A2 (R586* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 418701	NM_016529.6(ATP8A2):c.2293G>T (p.Asp765Tyr)	ATP8A2 (D765Y +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 +1 more	GLikely pathogenic
Select item 128490	NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 128489	NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 50946	NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met)	ATP8A2 (I376M +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic

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Links from MedGen

Items: 53