476[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 711

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 1177949	NM_000701.8(ATP1A1):c.-78C>T	ATP1A1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 2813096	NM_000701.8(ATP1A1):c.9G>A (p.Lys3=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931397	NM_000701.8(ATP1A1):c.10G>C (p.Gly4Arg)	ATP1A1 (G4R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704508	NM_000701.8(ATP1A1):c.12+3G>T	ATP1A1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2964353	NM_000701.8(ATP1A1):c.12+8T>G	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944083	NM_000701.8(ATP1A1):c.12+9C>A	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636242	NM_000701.8(ATP1A1):c.12+11G>A	ATP1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2958463	NM_000701.8(ATP1A1):c.12+12G>A	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974525	NM_000701.8(ATP1A1):c.12+19C>T	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280079	NM_000701.8(ATP1A1):c.12+501del	ATP1A1, LOC129931261	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
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 1251879	NM_000701.8(ATP1A1):c.13-203G>A	ATP1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1673728	NM_000701.8(ATP1A1):c.13-16C>G	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032345	NM_000701.8(ATP1A1):c.13-11T>C	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2171190	NM_000701.8(ATP1A1):c.13-4A>G	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740462	NM_000701.8(ATP1A1):c.13G>A (p.Val5Ile)	ATP1A1 (V5I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1517330	NM_000701.8(ATP1A1):c.13G>T (p.Val5Phe)	ATP1A1 (V5F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1364803	NM_000701.8(ATP1A1):c.14T>C (p.Val5Ala)	ATP1A1 (V5A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2033110	NM_000701.8(ATP1A1):c.18A>T (p.Gly6=)	ATP1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2235961	NM_000701.8(ATP1A1):c.19C>T (p.Arg7Cys)	ATP1A1 (R7C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2991281	NM_000701.8(ATP1A1):c.20G>A (p.Arg7His)	ATP1A1 (R7H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2639014	NM_000701.8(ATP1A1):c.20G>T (p.Arg7Leu)	ATP1A1 (R7L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2963834	NM_000701.8(ATP1A1):c.25A>C (p.Lys9Gln)	ATP1A1 (K9Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1717186	NM_000701.8(ATP1A1):c.33G>T (p.Glu11Asp)	ATP1A1 (E11D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2855197	NM_000701.8(ATP1A1):c.34C>T (p.Pro12Ser)	ATP1A1 (P12S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880683	NM_000701.8(ATP1A1):c.36T>C (p.Pro12=)	ATP1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2783079	NM_000701.8(ATP1A1):c.38C>A (p.Ala13Glu)	ATP1A1 (A13E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1536522	NM_000701.8(ATP1A1):c.39A>G (p.Ala13=)	ATP1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2742876	NM_000701.8(ATP1A1):c.42T>C (p.Ala14=)	ATP1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957534	NM_000701.8(ATP1A1):c.48A>G (p.Ser16=)	ATP1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1424041	NM_000701.8(ATP1A1):c.53A>G (p.Gln18Arg)	ATP1A1 (Q18R)	Single nucleotide variant (missense variant +1 more)	ATP1A1-related condition +1 more	GUncertain significance
Select item 1985694	NM_000701.8(ATP1A1):c.66GGGCAAAAA[3] (p.Lys28_Asp29insGlyLysLys)	ATP1A1	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1604634	NM_000701.8(ATP1A1):c.60T>C (p.Asp20=)	ATP1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2185837	NM_000701.8(ATP1A1):c.66GGGCAAAAA[1] (p.23GKK[1])	ATP1A1	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1722114	NM_000701.8(ATP1A1):c.62A>G (p.Lys21Arg)	ATP1A1 (K21R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967818	NM_000701.8(ATP1A1):c.66G>A (p.Lys22=)	ATP1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2270363	NM_000701.8(ATP1A1):c.68G>A (p.Gly23Asp)	ATP1A1 (G23D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2083471	NM_000701.8(ATP1A1):c.69C>A (p.Gly23=)	ATP1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1381823	NM_000701.8(ATP1A1):c.79A>C (p.Lys27Gln)	ATP1A1 (K27Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2034418	NM_000701.8(ATP1A1):c.81A>G (p.Lys27=)	ATP1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2852881	NM_000701.8(ATP1A1):c.89G>A (p.Arg30Lys)	ATP1A1 (R30K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2114202	NM_000701.8(ATP1A1):c.91G>T (p.Asp31Tyr)	ATP1A1 (D31Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1936559	NM_000701.8(ATP1A1):c.93C>T (p.Asp31=)	ATP1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012544	NM_000701.8(ATP1A1):c.102A>G (p.Glu34=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954165	NM_000701.8(ATP1A1):c.123+8C>T	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014817	NM_000701.8(ATP1A1):c.123+9T>A	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117807	NM_000701.8(ATP1A1):c.123+10A>G	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003191	NM_000701.8(ATP1A1):c.123+13A>C	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776367	NM_000701.8(ATP1A1):c.123+19A>G	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024750	NM_000701.8(ATP1A1):c.123+19A>T	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921697	NM_000701.8(ATP1A1):c.123+19A>C	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230945	NM_000701.8(ATP1A1):c.123+225C>G	ATP1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1939963	NM_000701.8(ATP1A1):c.124-19T>C	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821964	NM_000701.8(ATP1A1):c.124-18G>A	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1552355	NM_000701.8(ATP1A1):c.124-12G>A	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1614397	NM_000701.8(ATP1A1):c.124-8T>A	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783217	NM_000701.8(ATP1A1):c.124-7C>T	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 545677	NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg)	ATP1A1 (L48R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2705568	NM_000701.8(ATP1A1):c.144T>G (p.Leu48=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026902	NM_000701.8(ATP1A1):c.144T>C (p.Leu48=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718133	NM_000701.8(ATP1A1):c.145G>C (p.Asp49His)	ATP1A1 (D18H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2298465	NM_000701.8(ATP1A1):c.145G>T (p.Asp49Tyr)	ATP1A1 (D18Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1463943	NM_000701.8(ATP1A1):c.157C>T (p.Arg53Cys)	ATP1A1 (R22C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1334984	NM_000701.8(ATP1A1):c.158G>A (p.Arg53His)	ATP1A1 (R22H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137931	NM_000701.8(ATP1A1):c.165T>C (p.Tyr55=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1308958	NM_000701.8(ATP1A1):c.176T>C (p.Leu59Ser)	ATP1A1 (L28S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880713	NM_000701.8(ATP1A1):c.181C>T (p.Arg61Trp)	ATP1A1 (R30W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487152	NM_000701.8(ATP1A1):c.182G>A (p.Arg61Gln)	ATP1A1 (R30Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1353537	NM_000701.8(ATP1A1):c.183+3A>G	ATP1A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 779298	NM_000701.8(ATP1A1):c.183+4T>C	ATP1A1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2107197	NM_000701.8(ATP1A1):c.183+8C>G	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664630	NM_000701.8(ATP1A1):c.183+8C>T	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543846	NM_000701.8(ATP1A1):c.183+19G>A	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868495	NM_000701.8(ATP1A1):c.184-18T>C	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975608	NM_000701.8(ATP1A1):c.184-17A>G	ATP1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1309631	NM_000701.8(ATP1A1):c.184-10T>G	ATP1A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1950455	NM_000701.8(ATP1A1):c.191C>G (p.Thr64Arg)	ATP1A1 (T33R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053853	NM_000701.8(ATP1A1):c.198T>C (p.Ala66=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883607	NM_000701.8(ATP1A1):c.218C>T (p.Ala73Val)	ATP1A1 (A73V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827382	NM_000701.8(ATP1A1):c.219G>C (p.Ala73=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649391	NM_000701.8(ATP1A1):c.219G>A (p.Ala73=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2138796	NM_000701.8(ATP1A1):c.220C>A (p.Arg74=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2422056	NM_000701.8(ATP1A1):c.221G>A (p.Arg74Gln)	ATP1A1 (R43Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975451	NM_000701.8(ATP1A1):c.234C>T (p.Asn78=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967915	NM_000701.8(ATP1A1):c.235G>A (p.Ala79Thr)	ATP1A1 (A48T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396162	NM_000701.8(ATP1A1):c.248C>T (p.Pro83Leu)	ATP1A1 (P83L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010364	NM_000701.8(ATP1A1):c.249T>G (p.Pro83=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915220	NM_000701.8(ATP1A1):c.256A>G (p.Thr86Ala)	ATP1A1 (T86A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986936	NM_000701.8(ATP1A1):c.264A>G (p.Glu88=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749679	NM_000701.8(ATP1A1):c.283C>T (p.Gln95Ter)	ATP1A1 (Q64* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3131462	NM_000701.8(ATP1A1):c.286C>T (p.Leu96Phe)	ATP1A1 (L65F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2824468	NM_000701.8(ATP1A1):c.286C>G (p.Leu96Val)	ATP1A1 (L65V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590071	NM_000701.8(ATP1A1):c.297G>A (p.Gly99=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 162465	NM_000701.8(ATP1A1):c.299_313del (p.Phe100_Leu104del)	ATP1A1	Deletion (inframe_deletion)	Aldosterone-producing adrenal cortex adenoma	GPathogenic
Select item 1952362	NM_000701.8(ATP1A1):c.300C>T (p.Phe100=)	ATP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085837	NM_000701.8(ATP1A1):c.304A>G (p.Met102Val)	ATP1A1 (M71V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 8