ClinVar for MedGen (Select 1648475) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066218	NM_000701.8(ATP1A1):c.1888G>C (p.Gly630Arg)	ATP1A1, ATP1A1-AS1 (G599R +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD	GUncertain significance
Select item 2986874	NM_000701.8(ATP1A1):c.1538G>A (p.Arg513Lys)	ATP1A1, ATP1A1-AS1 (R482K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2671759	NM_000701.8(ATP1A1):c.3007G>A (p.Glu1003Lys)	ATP1A1, ATP1A1-AS1 (E1003K +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD	GUncertain significance
Select item 2665056	NM_000701.8(ATP1A1):c.518G>A (p.Arg173Gln)	ATP1A1 (R142Q +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD +1 more	GUncertain significance
Select item 2431048	NM_000701.8(ATP1A1):c.1789G>A (p.Ala597Thr)	ATP1A1, ATP1A1-AS1 (A566T +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD +1 more	GConflicting classifications of pathogenicity
Select item 1699367	NM_000701.8(ATP1A1):c.8A>C (p.Lys3Thr)	ATP1A1 (K3T)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD	GUncertain significance
Select item 1687417	NM_000701.8(ATP1A1):c.2957C>T (p.Thr986Ile)	ATP1A1, ATP1A1-AS1 (T955I +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD	GUncertain significance
Select item 1685248	NM_000701.8(ATP1A1):c.1799C>G (p.Pro600Arg)	ATP1A1, ATP1A1-AS1 (P569R +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD	GLikely pathogenic
Select item 1299690	NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg)	ATP1A1, ATP1A1-AS1 (G518R +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD +1 more	GConflicting classifications of pathogenicity
Select item 1294598	NM_000701.8(ATP1A1):c.637-17C>T	ATP1A1	Single nucleotide variant (intron variant)	Hypomagnesemia, seizures, and intellectual disability 2 +2 more	GBenign
Select item 1288743	NM_000701.8(ATP1A1):c.3057G>A (p.Lys1019=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	ATP1A1-related disorder +3 more	GBenign
Select item 1287014	NM_000701.8(ATP1A1):c.1024-64G>A	ATP1A1	Single nucleotide variant (intron variant)	Hypomagnesemia, seizures, and intellectual disability 2 +2 more	GBenign
Select item 1286325	NM_000701.8(ATP1A1):c.755-77A>T	ATP1A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1279059	NM_000701.8(ATP1A1):c.1974-14del	ATP1A1, ATP1A1-AS1	Deletion (intron variant)	Hypomagnesemia, seizures, and intellectual disability 2 +2 more	GBenign
Select item 1275937	NM_000701.8(ATP1A1):c.741C>A (p.Thr247=)	ATP1A1	Single nucleotide variant (synonymous variant)	Hypomagnesemia, seizures, and intellectual disability 2 +3 more	GBenign
Select item 1274903	NM_000701.8(ATP1A1):c.3043+8T>C	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	Charcot-marie-tooth disease, axonal, type 2DD +2 more	GBenign
Select item 1267145	NM_000701.8(ATP1A1):c.1110G>A (p.Thr370=)	ATP1A1	Single nucleotide variant (synonymous variant)	Charcot-marie-tooth disease, axonal, type 2DD +2 more	GBenign
Select item 1261446	NM_000701.8(ATP1A1):c.1223-32G>A	ATP1A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1227676	NM_000701.8(ATP1A1):c.1024-100T>G	ATP1A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1225564	NM_000701.8(ATP1A1):c.2952-37C>T	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	Hypomagnesemia, seizures, and intellectual disability 2 +2 more	GBenign
Select item 1181423	NM_000701.8(ATP1A1):c.3043+38T>C	ATP1A1-AS1, ATP1A1	Single nucleotide variant (intron variant)	Hypomagnesemia, seizures, and intellectual disability 2 +2 more	GBenign
Select item 1174506	NM_000701.8(ATP1A1):c.1001A>G (p.Glu334Gly)	ATP1A1 (E303G +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD	GLikely pathogenic
Select item 1029934	NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro)	ATP1A1, ATP1A1-AS1 (L813P +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD +1 more	GLikely pathogenic
Select item 995868	NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs)	ATP1A1-AS1, ATP1A1 (C906fs +1 more)	Deletion (frameshift variant)	Charcot-marie-tooth disease, axonal, type 2DD	GLikely pathogenic
Select item 872433	NM_000701.8(ATP1A1):c.2355C>T (p.Pro785=)	ATP1A1, ATP1A1-AS1	Single nucleotide variant (synonymous variant)	Hypomagnesemia, seizures, and intellectual disability 2 +2 more	GBenign/Likely benign
Select item 545681	NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala)	ATP1A1, ATP1A1-AS1 (D811A +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-marie-tooth disease, axonal, type 2DD +1 more	GConflicting classifications of pathogenicity
Select item 545680	NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)	ATP1A1, ATP1A1-AS1 (I592T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 545679	NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr)	ATP1A1, ATP1A1-AS1 (P600T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 545678	NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala)	ATP1A1, ATP1A1-AS1 (P600A +1 more)	Single nucleotide variant (missense variant)	Charcot-marie-tooth disease, axonal, type 2DD	GPathogenic
Select item 545677	NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg)	ATP1A1 (L48R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 30