ClinVar for Gene (Select 27032) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382309	NM_001378687.1(ATP2C1):c.661A>G (p.Thr221Ala)	ATP2C1 (T205A +3 more)	Single nucleotide variant (missense variant)	Familial benign pemphigus	GLikely pathogenic
Select item 3340302	NM_001378687.1(ATP2C1):c.423-2A>G	ATP2C1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3328966	NM_001378687.1(ATP2C1):c.2168T>G (p.Met723Arg)	ATP2C1 (M718R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247013	NC_000003.11:g.(?_130678099)_(130686283_?)del	ATP2C1	Deletion	not provided	GPathogenic
Select item 3131585	NM_001378687.1(ATP2C1):c.563T>C (p.Leu188Ser)	ATP2C1 (L172S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131584	NM_001378687.1(ATP2C1):c.423T>C (p.Cys141=)	ATP2C1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3131583	NM_001378687.1(ATP2C1):c.335T>C (p.Ile112Thr)	ATP2C1 (I112T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131582	NM_001378687.1(ATP2C1):c.28C>G (p.Pro10Ala)	ATP2C1 (P10A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3131581	NM_001378687.1(ATP2C1):c.1690G>A (p.Val564Ile)	ATP2C1 (V564I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131580	NM_001378687.1(ATP2C1):c.1364G>C (p.Ser455Thr)	ATP2C1 (S439T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131579	NM_001378687.1(ATP2C1):c.1148T>A (p.Phe383Tyr)	ATP2C1 (F378Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130525	NM_014065.4(ASTE1):c.1816T>C (p.Tyr606His)	ASTE1, ATP2C1 (Y631H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3064721	NM_001378687.1(ATP2C1):c.2167A>G (p.Met723Val)	ATP2C1 (M707V +3 more)	Single nucleotide variant (missense variant)	Familial benign pemphigus	GUncertain significance
Select item 3048711	NM_014065.4(ASTE1):c.1708C>T (p.Arg570Ter)	ASTE1, ATP2C1 (R570* +1 more)	Single nucleotide variant (missense variant +3 more)	ASTE1-related disorder	GLikely benign
Select item 3048509	NM_001378687.1(ATP2C1):c.2400C>T (p.Asp800=)	ATP2C1	Single nucleotide variant (synonymous variant)	ATP2C1-related disorder	GLikely benign
Select item 3048246	NM_001378687.1(ATP2C1):c.118-8T>C	ATP2C1	Single nucleotide variant (intron variant)	ATP2C1-related disorder	GLikely benign
Select item 3045395	NM_001378687.1(ATP2C1):c.-8G>A	ATP2C1	Single nucleotide variant (5 prime UTR variant +1 more)	ATP2C1-related disorder	GLikely benign
Select item 3040036	NM_001378687.1(ATP2C1):c.1650T>G (p.Thr550=)	ATP2C1	Single nucleotide variant (synonymous variant)	ATP2C1-related disorder	GLikely benign
Select item 3035209	NM_001199180.2(ATP2C1):c.62T>A (p.Ile21Asn)	ATP2C1 (I21N)	Single nucleotide variant (missense variant)	ATP2C1-related disorder	GBenign
Select item 3026968	NM_001378687.1(ATP2C1):c.2587C>T (p.Pro863Ser)	ATP2C1 (P847S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907343	NM_001378687.1(ATP2C1):c.520C>G (p.Arg174Gly)	ATP2C1 (R169G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899833	NM_001378687.1(ATP2C1):c.1218+16del	ATP2C1	Deletion (intron variant)	not provided	GBenign
Select item 2891992	NM_001378687.1(ATP2C1):c.532-7C>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2869404	NM_001378687.1(ATP2C1):c.1309-4_1309-2delinsTTG	ATP2C1	Indel (splice acceptor variant)	not provided	GPathogenic
Select item 2799643	NM_001378687.1(ATP2C1):c.2243+4C>A	ATP2C1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2765723	NM_001378687.1(ATP2C1):c.1044T>A (p.Cys348Ter)	ATP2C1 (C348* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2764746	NM_001378687.1(ATP2C1):c.1351_1354dup (p.Tyr452Ter)	ATP2C1 (Y436* +3 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 2748804	NM_001378687.1(ATP2C1):c.900-2A>T	ATP2C1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2734571	NM_001378687.1(ATP2C1):c.1816C>T (p.Gln606Ter)	ATP2C1 (Q601* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2734570	NM_001378687.1(ATP2C1):c.1031G>A (p.Cys344Tyr)	ATP2C1 (C344Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654148	NM_001378687.1(ATP2C1):c.-180-73_-180-47del	ATP2C1	Deletion (intron variant)	not provided	GBenign
Select item 2611048	NM_001378687.1(ATP2C1):c.1117G>A (p.Ala373Thr)	ATP2C1 (A357T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609571	NM_001378687.1(ATP2C1):c.2090A>G (p.Asn697Ser)	ATP2C1 (N692S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608804	NM_014065.4(ASTE1):c.1577C>T (p.Ala526Val)	ASTE1, ATP2C1 (A526V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2544187	NM_001378687.1(ATP2C1):c.1266G>A (p.Met422Ile)	ATP2C1 (M456I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538348	NM_001378687.1(ATP2C1):c.2036A>G (p.Asp679Gly)	ATP2C1 (D663G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529864	NM_001378687.1(ATP2C1):c.2350A>G (p.Ile784Val)	ATP2C1 (I768V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529076	NM_001378687.1(ATP2C1):c.1009A>G (p.Ile337Val)	ATP2C1 (I321V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517230	NM_014065.4(ASTE1):c.1856T>C (p.Ile619Thr)	ASTE1, ATP2C1 (I644T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509946	NM_001378687.1(ATP2C1):c.1615C>G (p.Leu539Val)	ATP2C1 (L523V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495816	NM_001378687.1(ATP2C1):c.1403G>C (p.Arg468Pro)	ATP2C1 (R452P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465836	NM_001378687.1(ATP2C1):c.1748G>A (p.Arg583His)	ATP2C1 (R617H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460984	NM_001378687.1(ATP2C1):c.1190A>G (p.Tyr397Cys)	ATP2C1 (Y397C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2425951	NC_000003.11:g.(?_130711775)_(130720194_?)del	ATP2C1	Deletion	not provided	GPathogenic
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2400763	NM_014065.4(ASTE1):c.1586G>A (p.Arg529Gln)	ASTE1, ATP2C1 (R529Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2398949	NM_001378687.1(ATP2C1):c.1508C>A (p.Thr503Asn)	ATP2C1 (T487N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390289	NM_001378687.1(ATP2C1):c.2278C>T (p.Arg760Cys)	ATP2C1 (R755C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373613	NM_014065.4(ASTE1):c.1949A>G (p.His650Arg)	ASTE1, ATP2C1 (H675R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312322	NM_001378687.1(ATP2C1):c.2715C>G (p.Ile905Met)	ATP2C1 (I889M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310952	NM_001378687.1(ATP2C1):c.1165G>C (p.Asp389His)	ATP2C1 (D373H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295349	NM_001378687.1(ATP2C1):c.1471A>G (p.Thr491Ala)	ATP2C1 (T475A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291555	NM_014065.4(ASTE1):c.1607T>C (p.Leu536Ser)	ASTE1, ATP2C1 (L536S)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2265049	NM_014065.4(ASTE1):c.1540G>A (p.Ala514Thr)	ASTE1, ATP2C1 (A514T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2262782	NM_001378687.1(ATP2C1):c.574A>G (p.Thr192Ala)	ATP2C1 (T176A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258126	NM_001378687.1(ATP2C1):c.1006C>T (p.Pro336Ser)	ATP2C1 (P331S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245540	NM_001378687.1(ATP2C1):c.28C>T (p.Pro10Ser)	ATP2C1 (P44S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224210	NM_001378687.1(ATP2C1):c.41A>C (p.Asn14Thr)	ATP2C1 (N48T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2186026	NM_001378687.1(ATP2C1):c.1980G>A (p.Ala660=)	ATP2C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2147650	NM_001378687.1(ATP2C1):c.486C>T (p.Cys162=)	ATP2C1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2113397	NM_001378687.1(ATP2C1):c.1839+2T>C	ATP2C1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2097916	NM_001378687.1(ATP2C1):c.1356C>A (p.Tyr452Ter)	ATP2C1 (Y447* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2031331	NM_001378687.1(ATP2C1):c.2256_2259del (p.Pro753fs)	ATP2C1 (P737fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1908185	NM_001378687.1(ATP2C1):c.1219-12T>C	ATP2C1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907818	NM_001378687.1(ATP2C1):c.2127-7dup	ATP2C1	Duplication (intron variant)	not provided	GBenign
Select item 1899989	NM_001378687.1(ATP2C1):c.2487+20G>T	ATP2C1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1879592	NM_001378687.1(ATP2C1):c.2338C>A (p.Leu780Ile)	ATP2C1 (L764I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878434	NM_001378687.1(ATP2C1):c.1570+3A>C	ATP2C1	Single nucleotide variant (intron variant)	Familial benign pemphigus	GLikely pathogenic
Select item 1878433	NM_001378687.1(ATP2C1):c.1840-4del	ATP2C1	Deletion (intron variant)	Familial benign pemphigus	GLikely pathogenic
Select item 1878432	NM_001378687.1(ATP2C1):c.1840_1844del (p.Val614fs)	ATP2C1 (V648fs +3 more)	Deletion (frameshift variant)	Familial benign pemphigus	GLikely pathogenic
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 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1686484	NM_001378687.1(ATP2C1):c.2058-17T>C	ATP2C1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1665302	NM_001378687.1(ATP2C1):c.324+17A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1598576	NM_001378687.1(ATP2C1):c.2058-20C>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1591483	NM_001378687.1(ATP2C1):c.2488-19CT[2]	ATP2C1	Microsatellite (intron variant)	not provided	GBenign
Select item 1591426	NM_001378687.1(ATP2C1):c.234+18C>T	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1573868	NM_001378687.1(ATP2C1):c.2057+18G>A	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1563861	NM_001378687.1(ATP2C1):c.6+12del	ATP2C1	Deletion (intron variant)	not provided	GLikely benign
Select item 1506843	NM_001378687.1(ATP2C1):c.2185C>G (p.Leu729Val)	ATP2C1 (L724V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1451141	NM_001378687.1(ATP2C1):c.2395C>T (p.Arg799Ter)	ATP2C1 (R799* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1299867	NM_001378687.1(ATP2C1):c.754G>T (p.Glu252Ter)	ATP2C1 (E236* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1287532	NM_001378687.1(ATP2C1):c.2126+113A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287440	NM_001378687.1(ATP2C1):c.1741+256del	ATP2C1	Deletion (intron variant)	not provided	GBenign
Select item 1287379	NM_001378687.1(ATP2C1):c.2058-157C>A	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283414	NM_001378687.1(ATP2C1):c.531+265C>T	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 1278868	NM_001378687.1(ATP2C1):c.1024+67dup	ATP2C1	Duplication (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 1276922	NM_001378687.1(ATP2C1):c.2392-218A>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 1272973	NM_001378687.1(ATP2C1):c.1308+152T>G	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 1270134	NM_001378687.1(ATP2C1):c.117+327A>G	ATP2C1	Single nucleotide variant (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 1269552	NM_001378687.1(ATP2C1):c.234+315A>T	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 1266288	NM_001378687.1(ATP2C1):c.1024+122A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265320	NM_001378687.1(ATP2C1):c.2243+108A>C	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign

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