ClinVar for MedGen (Select 1675904) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237519	NM_000701.8(ATP1A1):c.821C>G (p.Ala274Gly)	ATP1A1 (A243G +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 2	GLikely pathogenic
Select item 3236059	NM_000701.8(ATP1A1):c.1144A>G (p.Thr382Ala)	ATP1A1 (T351A +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 2	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 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 1700229	NM_000701.8(ATP1A1):c.2660G>A (p.Arg887Gln)	ATP1A1, ATP1A1-AS1 (R856Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hypomagnesemia, seizures, and intellectual disability 2 +1 more	GConflicting classifications of pathogenicity
Select item 1687398	NM_000701.8(ATP1A1):c.905T>G (p.Leu302Arg)	ATP1A1 (L271R +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 2	GPathogenic
Select item 1334984	NM_000701.8(ATP1A1):c.158G>A (p.Arg53His)	ATP1A1 (R22H +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 2 +1 more	GUncertain significance
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)	Hypomagnesemia, seizures, and intellectual disability 2 +2 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)	Hypomagnesemia, seizures, and intellectual disability 2 +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)	not provided +2 more	GBenign
Select item 1274903	NM_000701.8(ATP1A1):c.3043+8T>C	ATP1A1, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1267145	NM_000701.8(ATP1A1):c.1110G>A (p.Thr370=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1261446	NM_000701.8(ATP1A1):c.1223-32G>A	ATP1A1	Single nucleotide variant (intron variant)	Hypomagnesemia, seizures, and intellectual disability 2 +2 more	GBenign
Select item 1227676	NM_000701.8(ATP1A1):c.1024-100T>G	ATP1A1	Single nucleotide variant (intron variant)	Hypomagnesemia, seizures, and intellectual disability 2 +2 more	GBenign
Select item 1225564	NM_000701.8(ATP1A1):c.2952-37C>T	ATP1A1-AS1, ATP1A1	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, ATP1A1-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 992402	NM_000701.8(ATP1A1):c.1866C>G (p.Ile622Met)	ATP1A1-AS1, ATP1A1 (I591M +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 2	GUncertain significance
Select item 931678	NM_000701.8(ATP1A1):c.12+727T>A	ATP1A1	Single nucleotide variant (intron variant)	Hypomagnesemia, seizures, and intellectual disability 2	GUncertain significance
Select item 931627	NM_000701.8(ATP1A1):c.2542C>T (p.Arg848Trp)	ATP1A1, ATP1A1-AS1 (R848W +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 2	GUncertain significance
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 619298	NM_000701.8(ATP1A1):c.2791T>C (p.Trp931Arg)	ATP1A1, ATP1A1-AS1 (W931R +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 2	GPathogenic
Select item 617643	NM_000701.8(ATP1A1):c.2576T>G (p.Met859Arg)	ATP1A1-AS1, ATP1A1 (M859R +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 2	GPathogenic
Select item 617642	NM_000701.8(ATP1A1):c.907G>C (p.Gly303Arg)	ATP1A1 (G303R +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 2	GPathogenic
Select item 617641	NM_000701.8(ATP1A1):c.905T>C (p.Leu302Pro)	ATP1A1 (L302P +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 2	GPathogenic

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Items: 27