"GeneDx"[submitter] AND "ATP2C1"[gene] - ClinVar

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

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 1237601	NC_000003.12:g.130850343C>T	ATP2C1	Single nucleotide variant	not provided	GBenign
Select item 1262929	NM_001199180.2(ATP2C1):c.-108T>G	ATP2C1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 343317	NM_001378687.1(ATP2C1):c.6+15C>G	ATP2C1	Single nucleotide variant (intron variant)	Familial benign pemphigus +2 more	GBenign
Select item 1236415	NM_001378687.1(ATP2C1):c.117+176T>C	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270134	NM_001378687.1(ATP2C1):c.117+327A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238682	NM_001378687.1(ATP2C1):c.118-240A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234965	NM_001378687.1(ATP2C1):c.234+78T>C	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242425	NM_001378687.1(ATP2C1):c.234+114T>C	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269552	NM_001378687.1(ATP2C1):c.234+315A>T	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223998	NM_001378687.1(ATP2C1):c.360+219C>T	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237364	NM_001378687.1(ATP2C1):c.361-144G>A	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277405	NM_001378687.1(ATP2C1):c.422+115A>T	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253397	NM_001378687.1(ATP2C1):c.422+241_422+242dup	ATP2C1	Duplication (intron variant)	not provided	GBenign
Select item 1269932	NM_001378687.1(ATP2C1):c.422+246T>C	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229368	NM_001378687.1(ATP2C1):c.423-332_423-331insCTGTGTGT	ATP2C1	Microsatellite (intron variant)	not provided	GBenign
Select item 1226870	NM_001378687.1(ATP2C1):c.423-316T>C	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261749	NM_001378687.1(ATP2C1):c.423-264C>A	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267891	NM_001378687.1(ATP2C1):c.423-160T>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 816949	NM_001378687.1(ATP2C1):c.457C>T (p.Arg153Ter)	ATP2C1 (R148* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1283414	NM_001378687.1(ATP2C1):c.531+265C>T	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 393232	NM_001378687.1(ATP2C1):c.544T>C (p.Ser182Pro)	ATP2C1 (S182P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810653	NM_001378687.1(ATP2C1):c.616A>C (p.Thr206Pro)	ATP2C1 (T201P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 343323	NM_001378687.1(ATP2C1):c.636G>A (p.Ser212=)	ATP2C1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 503743	NM_001378687.1(ATP2C1):c.667del (p.Val223fs)	ATP2C1 (V223fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1182564	NM_001378687.1(ATP2C1):c.756+98A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245666	NM_001378687.1(ATP2C1):c.899+285C>A	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265081	NM_001378687.1(ATP2C1):c.1024+37C>T	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278868	NM_001378687.1(ATP2C1):c.1024+67dup	ATP2C1	Duplication (intron variant)	not provided	GBenign
Select item 1266288	NM_001378687.1(ATP2C1):c.1024+122A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263144	NM_001378687.1(ATP2C1):c.1025-108A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282814	NM_001378687.1(ATP2C1):c.1025-47A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243196	NM_001378687.1(ATP2C1):c.1122+149C>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265180	NM_001378687.1(ATP2C1):c.1122+180A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230372	NM_001378687.1(ATP2C1):c.1123-232T>C	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228148	NM_001378687.1(ATP2C1):c.1123-199G>A	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261372	NM_001378687.1(ATP2C1):c.1123-180A>C	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271376	NM_001378687.1(ATP2C1):c.1123-143A>T	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272973	NM_001378687.1(ATP2C1):c.1308+152T>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226282	NM_001378687.1(ATP2C1):c.1309-179T>A	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429384	NM_001378687.1(ATP2C1):c.1535_1536dup (p.Glu513fs)	ATP2C1 (E513fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 453081	NM_001378687.1(ATP2C1):c.1707del (p.Thr570fs)	ATP2C1 (T570fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1287440	NM_001378687.1(ATP2C1):c.1741+256del	ATP2C1	Deletion (intron variant)	not provided	GBenign
Select item 1181509	NM_001378687.1(ATP2C1):c.1741+266del	ATP2C1	Deletion (intron variant)	not provided	GBenign
Select item 421924	NM_001378687.1(ATP2C1):c.1766A>G (p.Lys589Arg)	ATP2C1 (K589R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 817334	NM_001378687.1(ATP2C1):c.1810_1811del (p.Val604fs)	ATP2C1 (V588fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1287379	NM_001378687.1(ATP2C1):c.2058-157C>A	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287532	NM_001378687.1(ATP2C1):c.2126+113A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 379537	NM_001378687.1(ATP2C1):c.2197C>T (p.Gln733Ter)	ATP2C1 (Q733* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 432124	NM_001378687.1(ATP2C1):c.2213A>G (p.Asn738Ser)	ATP2C1 (N738S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1265320	NM_001378687.1(ATP2C1):c.2243+108A>C	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273570	NM_001378687.1(ATP2C1):c.2243+174A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 373762	NM_001378687.1(ATP2C1):c.2335dup (p.Ile779fs)	ATP2C1 (I779fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 372308	NM_001378687.1(ATP2C1):c.2375_2378del (p.Phe792fs)	ATP2C1 (F787fs +3 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1276922	NM_001378687.1(ATP2C1):c.2392-218A>C	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260876	NM_001378687.1(ATP2C1):c.2487+288A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251421	NM_001378687.1(ATP2C1):c.2488-206A>T	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 343332	NM_001378687.1(ATP2C1):c.2598G>A (p.Lys866=)	ATP2C1	Single nucleotide variant (synonymous variant)	Familial benign pemphigus +3 more	GBenign
Select item 1260355	NM_001378687.1(ATP2C1):c.2630-93dup	ATP2C1	Duplication (intron variant)	not provided	GBenign
Select item 1242589	NM_001378687.1(ATP2C1):c.2630-94_2630-93dup	ATP2C1	Duplication (intron variant)	not provided	GBenign
Select item 503515	NM_001378687.1(ATP2C1):c.*28del	ATP2C1	Deletion (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1234464	NM_014065.4(ASTE1):c.1709+100dup	ATP2C1, ASTE1	Duplication (intron variant)	not provided	GBenign

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: 62