ClinVar for Gene (Select 55505) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201182	NM_018648.4(NOP10):c.64C>T (p.Pro22Ser)	NOP10 (P22S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2912938	NM_018648.4(NOP10):c.161T>G (p.Val54Gly)	NOP10 (V54G)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 2912548	NM_018648.4(NOP10):c.54+16_54+17del	NOP10	Deletion (intron variant)	Dyskeratosis congenita, autosomal recessive 1	GLikely benign
Select item 2804202	NM_018648.4(NOP10):c.151C>T (p.Arg51Cys)	NOP10 (R51C)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 2789275	NM_018648.4(NOP10):c.27G>A (p.Glu9=)	NOP10	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 1	GLikely benign
Select item 2725850	NM_018648.4(NOP10):c.54+10G>C	NOP10	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 1	GLikely benign
Select item 2724206	NM_018648.4(NOP10):c.40_41delinsTG (p.Val14Cys)	NOP10 (V14C)	Indel (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 2718563	NM_018648.4(NOP10):c.10C>T (p.Gln4Ter)	NOP10 (Q4*)	Single nucleotide variant (nonsense)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 2685508	GRCh37/hg19 15q13.3-14(chr15:32914240-34671790)x1	AVEN, CHRM5 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2685507	GRCh37/hg19 15q13.3-14(chr15:32914239-34780626)x1	ARHGAP11A, AVEN +13 more	Copy number loss	not provided	GUncertain significance
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2506513	NM_018648.4(NOP10):c.47C>T (p.Thr16Met)	NOP10	Single nucleotide variant (missense variant)	Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2	GPathogenic
Select item 2504086	NM_018648.4(NOP10):c.17A>G (p.Tyr6Cys)	NOP10	Single nucleotide variant (missense variant)	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9	GPathogenic
Select item 2427227	NC_000015.9:g.(?_34526072)_(35087019_?)del	ACTC1, GJD2 +6 more	Deletion	not provided	GPathogenic
Select item 2427224	NC_000015.9:g.(?_34567526)_(34635274_?)dup	NOP10, SLC12A6	Duplication	not provided	GUncertain significance
Select item 2425304	NC_000015.9:g.(?_34526082)_(35087009_?)del	ACTC1, GJD2 +6 more	Deletion	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2199674	NM_018648.4(NOP10):c.173A>G (p.Gln58Arg)	NOP10 (Q58R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 2150118	NM_018648.4(NOP10):c.185C>T (p.Pro62Leu)	NOP10 (P62L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 2118885	NM_018648.4(NOP10):c.54+19_54+29del	NOP10	Deletion (intron variant)	Dyskeratosis congenita, autosomal recessive 1	GLikely benign
Select item 2049282	NM_018648.4(NOP10):c.76_77del (p.Gln26fs)	NOP10 (Q26fs)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 2044489	NM_018648.4(NOP10):c.55-10C>T	NOP10	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 1	GLikely benign
Select item 1968335	NM_018648.4(NOP10):c.91C>T (p.His31Tyr)	NOP10 (H31Y)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1967479	NM_018648.4(NOP10):c.95C>G (p.Pro32Arg)	NOP10 (P32R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1965628	NM_018648.4(NOP10):c.128G>A (p.Arg43Gln)	NOP10 (R43Q)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1947972	NM_018648.4(NOP10):c.181C>T (p.Arg61Cys)	NOP10 (R61C)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1946628	NM_018648.4(NOP10):c.42C>A (p.Val14=)	NOP10	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 1	GLikely benign
Select item 1712253	GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3	KATNBL1, NUTM1 +13 more	Copy number gain	See cases	GPathogenic
Select item 1519452	NM_018648.4(NOP10):c.36T>G (p.Asp12Glu)	NOP10 (D12E)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1478462	NM_018648.4(NOP10):c.54+19del	NOP10	Deletion (intron variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1449170	NC_000015.9:g.(?_34634169)_(34635274_?)dup	NOP10	Duplication	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1441454	NM_018648.4(NOP10):c.154T>C (p.Phe52Leu)	NOP10 (F52L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1428113	NM_018648.4(NOP10):c.75A>T (p.Gln25His)	NOP10 (Q25H)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	GPathogenic
Select item 1337475	NM_018648.4(NOP10):c.52A>C (p.Lys18Gln)	NOP10 (K18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1317915	NC_000015.10:g.34343179T>C	NOP10	Single nucleotide variant	not provided	GLikely benign
Select item 1317777	NC_000015.10:g.34343396G>A	NOP10, NUTM1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1317083	NC_000015.10:g.34343198C>G	NOP10	Single nucleotide variant	not provided	GLikely benign
Select item 1316650	NM_018648.4(NOP10):c.55-125A>G	NOP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316649	NC_000015.10:g.34343182C>T	NOP10	Single nucleotide variant	not provided	GLikely benign
Select item 1296833	NM_018648.4(NOP10):c.54+21G>A	NOP10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1288019	NM_018648.4(NOP10):c.54+192C>A	NOP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281454	NM_018648.4(NOP10):c.55-192C>T	NOP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252235	NM_018648.4(NOP10):c.55-317T>C	NOP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239525	NM_018648.4(NOP10):c.55-210_55-209insCTTCTGACCTCAAG	NOP10	Insertion (intron variant)	not provided	GBenign
Select item 1119301	NM_018648.4(NOP10):c.102G>A (p.Arg34=)	NOP10	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 1	GLikely benign
Select item 1106251	NM_018648.4(NOP10):c.150A>G (p.Lys50=)	NOP10	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 1	GLikely benign
Select item 1059000	NM_018648.4(NOP10):c.92A>G (p.His31Arg)	NOP10 (H31R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1054241	NM_018648.4(NOP10):c.156C>G (p.Phe52Leu)	NOP10 (F52L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1054213	NM_018648.4(NOP10):c.31G>A (p.Gly11Arg)	NOP10 (G11R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1047758	NM_018648.4(NOP10):c.127C>G (p.Arg43Gly)	NOP10 (R43G)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1036993	NM_018648.4(NOP10):c.141dup (p.Ile48fs)	NOP10 (I48fs)	Duplication (frameshift variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 1018359	NM_018648.4(NOP10):c.89C>A (p.Ala30Asp)	NOP10 (A30D)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 1000345	NC_000015.9:g.(?_34634149)_(34635294_?)del	NOP10	Deletion	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 980027	GRCh37/hg19 15q13.3-14(chr15:32914238-34879217)x1	GOLGA8B, GOLGA8A +14 more	Copy number loss	not provided	GUncertain significance
Select item 887951	NM_018648.4(NOP10):c.*80C>T	NOP10	Single nucleotide variant (3 prime UTR variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 887950	NM_018648.4(NOP10):c.*108T>C	NOP10	Single nucleotide variant (3 prime UTR variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 887949	NM_018648.4(NOP10):c.*132T>G	NOP10	Single nucleotide variant (3 prime UTR variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 886695	NM_018648.4(NOP10):c.*184A>G	NOP10	Single nucleotide variant (3 prime UTR variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 885737	NM_018648.3(NOP10):c.-101C>G	NOP10	Single nucleotide variant	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 885736	NM_018648.3(NOP10):c.-88A>G	LOC130056750, NOP10	Single nucleotide variant	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 857255	NM_018648.4(NOP10):c.89C>G (p.Ala30Gly)	NOP10 (A30G)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 830917	NC_000015.10:g.(?_34341948)_(34343093_?)dup	NOP10	Duplication	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 815702	GRCh37/hg19 15q14(chr15:34197488-38656254)x1	ACTC1, AQR +19 more	Copy number loss	not provided	GPathogenic
Select item 815698	GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1	ACTC1, AQR +23 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 741413	NM_018648.4(NOP10):c.165C>T (p.Leu55=)	NOP10	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 1	GLikely benign
Select item 698096	NM_018648.4(NOP10):c.24C>T (p.Asn8=)	NOP10	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 686130	GRCh37/hg19 15q13.3-14(chr15:32915592-34671601)x3	ARHGAP11A, AVEN +13 more	Copy number gain	not provided	GUncertain significance
Select item 651009	NM_018648.4(NOP10):c.122_135delinsCACC (p.Tyr41fs)	NOP10 (Y41fs)	Indel (frameshift variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 644541	NM_018648.4(NOP10):c.27G>T (p.Glu9Asp)	NOP10 (E9D)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 564192	GRCh37/hg19 15q13.3-14(chr15:32920693-34868996)x3	EMC4, EMC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 564191	GRCh37/hg19 15q13.3-14(chr15:32446829-34868996)x1	ARHGAP11A, AVEN +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 466307	NM_018648.4(NOP10):c.55-10C>A	NOP10	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 466306	NM_018648.4(NOP10):c.179C>T (p.Pro60Leu)	NOP10 (P60L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 436023	NM_018648.4(NOP10):c.55-11T>C	NOP10	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 1 +2 more	GBenign/Likely benign
Select item 403246	NC_000015.10:g.34343662G>C	NOP10, NUTM1 (K10N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394689	GRCh37/hg19 15q13.3-14(chr15:32908373-34659183)x3	ARHGAP11A, AVEN +12 more	Copy number gain	See cases	GUncertain significance
Select item 369090	NM_018648.3(NOP10):c.-95T>C	LOC130056750, NOP10	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 315642	NM_018648.4(NOP10):c.-57C>T	LOC130056750, NOP10	Single nucleotide variant (5 prime UTR variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 315641	NM_018648.4(NOP10):c.-50C>T	LOC130056750, NOP10	Single nucleotide variant (5 prime UTR variant)	Dyskeratosis Congenita, Recessive	GUncertain significance
Select item 315640	NM_018648.4(NOP10):c.-38C>T	LOC130056750, NOP10	Single nucleotide variant (5 prime UTR variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 315639	NM_018648.4(NOP10):c.6del (p.Leu3fs)	NOP10 (L3fs)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance
Select item 315638	NM_018648.4(NOP10):c.51G>C (p.Leu17=)	NOP10	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 1	GConflicting classifications of pathogenicity
Select item 315637	NM_018648.4(NOP10):c.55-9C>T	NOP10	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 315636	NM_018648.4(NOP10):c.*30A>G	NOP10	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 315635	NM_018648.4(NOP10):c.*31C>T	NOP10	Single nucleotide variant (3 prime UTR variant)	Dyskeratosis congenita, autosomal recessive 1 +2 more	GBenign
Select item 315634	NM_018648.4(NOP10):c.*41dup	NOP10	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 315633	NM_018648.4(NOP10):c.*45G>C	NOP10	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 315632	NM_018648.4(NOP10):c.*129G>A	NOP10, SLC12A6	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 315631	NM_018648.4(NOP10):c.*136T>C	NOP10, SLC12A6	Single nucleotide variant (3 prime UTR variant)	Dyskeratosis Congenita, Recessive +3 more	GBenign/Likely benign
Select item 315630	NM_018648.4(NOP10):c.*149G>A	NOP10, SLC12A6	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 315629	NM_018648.4(NOP10):c.*172T>G	NOP10	Single nucleotide variant (3 prime UTR variant)	Dyskeratosis congenita, autosomal recessive 1	GUncertain significance

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