ClinVar for MedGen (Select 341705) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1606761	NM_017838.4(NHP2):c.337-14T>C	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita +2 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 353025	NM_017838.4(NHP2):c.190G>A (p.Val64Met)	NHP2 (V64M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
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 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 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)	Agenesis of the corpus callosum with peripheral neuropathy +3 more	GBenign/Likely benign
Select item 315631	NM_018648.4(NOP10):c.*136T>C	NOP10, SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy +3 more	GBenign/Likely benign
Select item 315630	NM_018648.4(NOP10):c.*149G>A	NOP10, SLC12A6	Single nucleotide variant (3 prime UTR variant)	Dyskeratosis congenita, autosomal recessive 1 +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
Select item 261036	NM_018648.4(NOP10):c.55-15G>C	NOP10	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 241214	NM_017838.4(NHP2):c.351C>T (p.Ala117=)	NHP2, RMND5B (P82L +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita, autosomal recessive 1 +3 more	GBenign/Likely benign
Select item 235529	NM_018648.4(NOP10):c.34G>C (p.Asp12His)	NOP10 (D12H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 29901	NM_198253.3(TERT):c.2701C>T (p.Arg901Trp)	TERT (R901W)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 29900	NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)	TERT (R811C)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 4282	NM_017838.4(NHP2):c.460T>A (p.Ter154Arg)	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 4281	NM_017838.4(NHP2):c.376G>A (p.Val126Met)	NHP2, RMND5B (V126M)	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita, autosomal recessive 2	GPathogenic
Select item 4280	NM_017838.4(NHP2):c.415T>C (p.Tyr139His)	NHP2, RMND5B (Y139H)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 2	GPathogenic
Select item 4279	NM_018648.4(NOP10):c.100C>T (p.Arg34Trp)	NOP10 (R34W)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GPathogenic

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Items: 69