27032[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 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 3035209	NM_001199180.2(ATP2C1):c.62T>A (p.Ile21Asn)	ATP2C1 (I21N)	Single nucleotide variant (missense variant)	ATP2C1-related disorder	GBenign
Select item 2654148	NM_001378687.1(ATP2C1):c.-180-73_-180-47del	ATP2C1	Deletion (intron variant)	not provided	GBenign
Select item 902375	NM_001378687.1(ATP2C1):c.-180-72G>A	ATP2C1	Single nucleotide variant (intron variant)	Familial benign pemphigus	GUncertain significance
Select item 902376	NM_001378687.1(ATP2C1):c.-180-57C>T	ATP2C1	Single nucleotide variant (intron variant)	Familial benign pemphigus +1 more	GUncertain significance
Select item 343313	NM_001378687.1(ATP2C1):c.-180-33C>A	ATP2C1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 903236	NM_001378687.1(ATP2C1):c.-90G>C	ATP2C1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial benign pemphigus	GUncertain significance
Select item 343314	NM_001378687.1(ATP2C1):c.-80TC[1]	ATP2C1	Microsatellite (5 prime UTR variant +1 more)	Familial benign pemphigus	GUncertain significance
Select item 343315	NM_001378687.1(ATP2C1):c.-66C>T	ATP2C1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial benign pemphigus	GUncertain significance
Select item 343316	NM_001378687.1(ATP2C1):c.-64A>G	ATP2C1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial benign pemphigus	GUncertain significance
Select item 903237	NM_001378687.1(ATP2C1):c.-33T>C	ATP2C1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial benign pemphigus	GBenign
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 1563861	NM_001378687.1(ATP2C1):c.6+12del	ATP2C1	Deletion (intron variant)	not provided	GLikely benign
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 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 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 903238	NM_001378687.1(ATP2C1):c.41A>G (p.Asn14Ser)	ATP2C1 (N14S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial benign pemphigus	GUncertain significance
Select item 1176463	NM_001378687.1(ATP2C1):c.117+1del	ATP2C1	Deletion (splice donor variant)	not provided	GPathogenic
Select item 343318	NM_001378687.1(ATP2C1):c.117+7G>A	ATP2C1	Single nucleotide variant (intron variant)	Familial benign pemphigus +1 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 3048246	NM_001378687.1(ATP2C1):c.118-8T>C	ATP2C1	Single nucleotide variant (intron variant)	ATP2C1-related disorder	GLikely benign
Select item 343319	NM_001378687.1(ATP2C1):c.135T>C (p.Gly45=)	ATP2C1	Single nucleotide variant (synonymous variant +1 more)	Familial benign pemphigus	GLikely benign
Select item 1591426	NM_001378687.1(ATP2C1):c.234+18C>T	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 1665302	NM_001378687.1(ATP2C1):c.324+17A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 3340302	NM_001378687.1(ATP2C1):c.423-2A>G	ATP2C1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 816949	NM_001378687.1(ATP2C1):c.457C>T (p.Arg153Ter)	ATP2C1 (R148* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2147650	NM_001378687.1(ATP2C1):c.486C>T (p.Cys162=)	ATP2C1	Single nucleotide variant (synonymous 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 343320	NM_001378687.1(ATP2C1):c.531+10G>A	ATP2C1	Single nucleotide variant (intron variant)	Familial benign pemphigus	GBenign
Select item 1283414	NM_001378687.1(ATP2C1):c.531+265C>T	ATP2C1	Single nucleotide variant (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 343321	NM_001378687.1(ATP2C1):c.532-6C>T	ATP2C1	Single nucleotide variant (intron variant)	Familial benign pemphigus	GUncertain significance
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 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 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 343322	NM_001378687.1(ATP2C1):c.585T>C (p.Cys195=)	ATP2C1	Single nucleotide variant (synonymous variant)	Familial benign pemphigus +1 more	GBenign
Select item 899636	NM_001378687.1(ATP2C1):c.593T>G (p.Val198Gly)	ATP2C1 (V193G +3 more)	Single nucleotide variant (missense variant)	Familial benign pemphigus +1 more	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 899637	NM_001378687.1(ATP2C1):c.635C>T (p.Ser212Leu)	ATP2C1 (S207L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 783404	NM_001378687.1(ATP2C1):c.691G>A (p.Val231Ile)	ATP2C1 (V226I +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 899638	NM_001378687.1(ATP2C1):c.694G>A (p.Val232Ile)	ATP2C1 (V227I +3 more)	Single nucleotide variant (missense variant)	Familial benign pemphigus	GUncertain significance
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 1182564	NM_001378687.1(ATP2C1):c.756+98A>G	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 5581	NM_001378687.1(ATP2C1):c.769_772dup (p.Leu258fs)	ATP2C1 (L242fs +3 more)	Duplication (frameshift variant)	Familial benign pemphigus	GPathogenic
Select item 343324	NM_001378687.1(ATP2C1):c.782G>A (p.Ser261Asn)	ATP2C1 (S261N +3 more)	Single nucleotide variant (missense variant)	Familial benign pemphigus	GBenign
Select item 783405	NM_001378687.1(ATP2C1):c.834A>G (p.Gly278=)	ATP2C1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 900771	NM_001378687.1(ATP2C1):c.874C>G (p.Leu292Val)	ATP2C1 (L276V +3 more)	Single nucleotide variant (missense variant)	Familial benign pemphigus	GUncertain significance
Select item 900772	NM_001378687.1(ATP2C1):c.899+6T>C	ATP2C1	Single nucleotide variant (intron variant)	Familial benign pemphigus	GUncertain significance
Select item 1245666	NM_001378687.1(ATP2C1):c.899+285C>A	ATP2C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2748804	NM_001378687.1(ATP2C1):c.900-2A>T	ATP2C1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1264346	NM_001378687.1(ATP2C1):c.900-1G>C	ATP2C1	Single nucleotide variant (splice acceptor variant)	Familial benign pemphigus	GPathogenic
Select item 5585	NM_001378687.1(ATP2C1):c.900-1G>A	ATP2C1	Single nucleotide variant (splice acceptor variant)	Familial benign pemphigus	GPathogenic
Select item 5582	NM_001378687.1(ATP2C1):c.910G>A (p.Ala304Thr)	ATP2C1 (A304T +3 more)	Single nucleotide variant (missense variant)	Familial benign pemphigus	GPathogenic
Select item 343325	NM_001378687.1(ATP2C1):c.996G>A (p.Val332=)	ATP2C1	Single nucleotide variant (synonymous variant)	Familial benign pemphigus	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 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 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 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 2765723	NM_001378687.1(ATP2C1):c.1044T>A (p.Cys348Ter)	ATP2C1 (C348* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 900773	NM_001378687.1(ATP2C1):c.1146A>G (p.Gln382=)	ATP2C1	Single nucleotide variant (synonymous variant)	Familial benign pemphigus +1 more	GLikely benign
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 2310952	NM_001378687.1(ATP2C1):c.1165G>C (p.Asp389His)	ATP2C1 (D373H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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