TMEM272[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 58255	GRCh38/hg38 13q14.3(chr13:51717666-52258617)x3	ALG11, ATP7B +35 more	Copy number gain	See cases	GUncertain significance
Select item 2371667	NM_031290.4(CCDC70):c.-24C>T	CCDC70, TMEM272	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2374610	NM_031290.4(CCDC70):c.-14G>A	CCDC70, TMEM272	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2618141	NM_031290.4(CCDC70):c.13A>G (p.Lys5Glu)	CCDC70, TMEM272 (K5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365826	NM_031290.4(CCDC70):c.13A>C (p.Lys5Gln)	CCDC70, TMEM272 (K5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139325	NM_031290.4(CCDC70):c.14A>G (p.Lys5Arg)	CCDC70, TMEM272 (K5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139327	NM_031290.4(CCDC70):c.56C>T (p.Ala19Val)	CCDC70, TMEM272 (A19V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2306682	NM_031290.4(CCDC70):c.73A>T (p.Ile25Phe)	CCDC70, TMEM272 (I25F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379297	NM_031290.4(CCDC70):c.76C>T (p.Arg26Cys)	CCDC70, TMEM272 (R26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264275	NM_031290.4(CCDC70):c.91A>G (p.Met31Val)	CCDC70, TMEM272 (M31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321829	NM_031290.4(CCDC70):c.115G>T (p.Ala39Ser)	CCDC70, TMEM272 (A39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139320	NM_031290.4(CCDC70):c.135A>C (p.Lys45Asn)	CCDC70, TMEM272 (K45N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139321	NM_031290.4(CCDC70):c.182T>G (p.Phe61Cys)	CCDC70, TMEM272 (F61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139322	NM_031290.4(CCDC70):c.287T>G (p.Phe96Cys)	CCDC70, TMEM272 (F96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139323	NM_031290.4(CCDC70):c.325A>G (p.Thr109Ala)	CCDC70, TMEM272 (T109A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394345	NM_031290.4(CCDC70):c.344G>A (p.Arg115His)	CCDC70, TMEM272 (R115H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219461	NM_031290.4(CCDC70):c.363T>A (p.Asp121Glu)	CCDC70, TMEM272 (D121E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264276	NM_031290.4(CCDC70):c.385A>T (p.Asn129Tyr)	CCDC70, TMEM272 (N129Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139324	NM_031290.4(CCDC70):c.407G>A (p.Arg136Gln)	CCDC70, TMEM272 (R136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466125	NM_031290.4(CCDC70):c.412C>T (p.Leu138Phe)	CCDC70, TMEM272 (L138F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210853	NM_031290.4(CCDC70):c.463G>C (p.Glu155Gln)	CCDC70, TMEM272 (E155Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139326	NM_031290.4(CCDC70):c.479T>C (p.Leu160Pro)	CCDC70, TMEM272 (L160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256948	NM_031290.4(CCDC70):c.570G>T (p.Glu190Asp)	CCDC70, TMEM272 (E190D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353534	NM_031290.4(CCDC70):c.575A>G (p.Asn192Ser)	CCDC70, TMEM272 (N192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491102	NM_031290.4(CCDC70):c.622G>A (p.Ala208Thr)	CCDC70, TMEM272 (A208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308528	NM_031290.4(CCDC70):c.637C>T (p.Arg213Cys)	CCDC70, TMEM272 (R213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206164	NM_031290.4(CCDC70):c.655C>G (p.Arg219Gly)	CCDC70, TMEM272 (R219G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 312340	NM_000053.4(ATP7B):c.*1901G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312341	NM_000053.4(ATP7B):c.*1805C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312343	NM_000053.4(ATP7B):c.*1782C>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GBenign
Select item 312342	NM_000053.4(ATP7B):c.*1782del	ATP7B, TMEM272	Deletion (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881201	NM_000053.4(ATP7B):c.*1773C>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312344	NM_000053.4(ATP7B):c.*1756T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881668	NM_000053.4(ATP7B):c.*1746C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881669	NM_000053.4(ATP7B):c.*1744C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GLikely benign
Select item 312345	NM_000053.4(ATP7B):c.*1717G>T	TMEM272, ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GBenign
Select item 312346	NM_000053.4(ATP7B):c.*1708A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GBenign
Select item 312347	NM_000053.4(ATP7B):c.*1659A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881670	NM_000053.4(ATP7B):c.*1618G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312348	NM_000053.4(ATP7B):c.*1592T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312349	NM_000053.4(ATP7B):c.*1558T>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312350	NM_000053.4(ATP7B):c.*1499A>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312351	NM_000053.4(ATP7B):c.*1493T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312352	NM_000053.4(ATP7B):c.*1491A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 882821	NM_000053.4(ATP7B):c.*1423T>C	TMEM272, ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312353	NM_000053.4(ATP7B):c.*1409A>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312354	NM_000053.4(ATP7B):c.*1385G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 882822	NM_000053.4(ATP7B):c.*1286G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312355	NM_000053.4(ATP7B):c.*1265A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883608	NM_000053.4(ATP7B):c.*1240T>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883609	NM_000053.4(ATP7B):c.*1206G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312356	NM_000053.4(ATP7B):c.*1182C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GBenign
Select item 312357	NM_000053.4(ATP7B):c.*1172G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GBenign
Select item 883610	NM_000053.4(ATP7B):c.*1170C>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883611	NM_000053.4(ATP7B):c.*1128G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883612	NM_000053.4(ATP7B):c.*1124C>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881253	NM_000053.4(ATP7B):c.*1104C>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312358	NM_000053.4(ATP7B):c.*1095C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312359	NM_000053.4(ATP7B):c.*1076A>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312360	NM_000053.4(ATP7B):c.*1036C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881254	NM_000053.4(ATP7B):c.*1019A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312361	NM_000053.4(ATP7B):c.*1014A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312362	NM_000053.4(ATP7B):c.*1009G>A	TMEM272, ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GLikely benign
Select item 881711	NM_000053.4(ATP7B):c.*1005G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312363	NM_000053.4(ATP7B):c.*1005G>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312364	NM_000053.4(ATP7B):c.994_997del	ATP7B, TMEM272	Deletion (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312365	NM_000053.4(ATP7B):c.*963C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881712	NM_000053.4(ATP7B):c.*920G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312366	NM_000053.4(ATP7B):c.*870C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312367	NM_000053.4(ATP7B):c.*851T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881713	NM_000053.4(ATP7B):c.*843C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance

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