C0002874[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39296	NC_000003.12:g.169764611C>T	TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 39294	NR_001566.3(TERC):n.389_390delCC	TERC	Deletion	Aplastic anemia	GPathogenic
Select item 39291	NR_001566.3(TERC):n.323C>T	LOC110806306, TERC	Single nucleotide variant	Aplastic anemia	GPathogenic
Select item 39290	NR_001566.3(TERC):n.322G>A	LOC110806306, TERC	Single nucleotide variant	Aplastic anemia	GPathogenic
Select item 39289	NR_001566.3(TERC):n.305G>A	LOC110806306, TERC	Single nucleotide variant	Aplastic anemia	GPathogenic
Select item 39284	NR_001566.3(TERC):n.180C>T	LOC110806306, TERC	Single nucleotide variant	Aplastic anemia	GPathogenic
Select item 39283	NR_001566.3(TERC):n.178G>A	LOC110806306, TERC	Single nucleotide variant	Aplastic anemia	GPathogenic
Select item 39281	NR_001566.3(TERC):n.117A>C	LOC110806306, TERC	Single nucleotide variant	Aplastic anemia	GPathogenic
Select item 7325	NR_001566.3(TERC):n.108_111delCTGA	LOC110806306, TERC	Deletion	Dyskeratosis congenita, autosomal dominant 1	GPathogenic
Select item 7324	NR_001566.3(TERC):n.72C>G	LOC110806306, TERC	Single nucleotide variant	Aplastic anemia +1 more	GPathogenic
Select item 7323	NR_001566.3(TERC):n.58G>A	TERC, LOC110806306	Single nucleotide variant	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 +3 more	GBenign/Likely benign
Select item 39287	NR_001566.3(TERC):n.26_32delGGGTGGT	LOC110806306, TERC	Deletion	Aplastic anemia	GPathogenic
Select item 39122	NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)	TERT (T1110M +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +8 more	GUncertain significance
Select item 12733	NM_198253.3(TERT):c.3268G>A (p.Val1090Met)	TERT (V1090M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GUncertain significance
Select item 39121	NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)	TERT (A1062T +1 more)	Single nucleotide variant (missense variant +1 more)	Aplastic anemia +7 more	GConflicting classifications of pathogenicity
Select item 39120	NM_198253.3(TERT):c.3043T>C (p.Cys1015Arg)	TERT (C1015R +1 more)	Single nucleotide variant (missense variant +1 more)	Aplastic anemia	Gnot provided
Select item 39119	NM_198253.3(TERT):c.3039C>T (p.His1013=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Acute myeloid leukemia +7 more	GBenign
Select item 39118	NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)	TERT (R979W +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 39116	NM_198253.3(TERT):c.2628C>G (p.His876Gln)	TERT (H876Q)	Single nucleotide variant (missense variant +1 more)	Aplastic anemia	Gnot provided
Select item 39114	NM_198253.3(TERT):c.2537A>G (p.Tyr846Cys)	TERT (Y846C)	Single nucleotide variant (missense variant +1 more)	Aplastic anemia	Gnot provided
Select item 12732	NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys)	TERT (Y772C)	Single nucleotide variant (missense variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	GPathogenic
Select item 39109	NM_198253.3(TERT):c.2147C>T (p.Ala716Val)	TERT (A716V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 39107	NM_198253.3(TERT):c.2097C>T (p.Ala699=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Acute myeloid leukemia +7 more	GBenign
Select item 12731	NM_198253.3(TERT):c.2080G>A (p.Val694Met)	TERT (V694M)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 12730	NM_198253.3(TERT):c.1234C>T (p.His412Tyr)	TERT (H412Y)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 39126	NM_198253.3(TERT):c.915G>A (p.Ala305=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not provided +10 more	GBenign
Select item 39125	NM_198253.3(TERT):c.835G>A (p.Ala279Thr)	TERT (A279T)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +6 more	GBenign
Select item 12729	NM_198253.3(TERT):c.604G>A (p.Ala202Thr)	TERT (A202T)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 21545	NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)	SBDS (R218*)	Single nucleotide variant (nonsense)	Aplastic anemia +1 more	GPathogenic/Likely pathogenic
Select item 21541	NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)	SBDS (R169C)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GConflicting classifications of pathogenicity
Select item 21539	NM_016038.4(SBDS):c.297_300del (p.Glu99fs)	SBDS (E99fs)	Microsatellite (frameshift variant)	Aplastic anemia +2 more	GPathogenic
Select item 3196	NM_016038.4(SBDS):c.258+2T>C	SBDS	Single nucleotide variant (splice donor variant)	SBDS-related disorder +11 more	GPathogenic/Likely pathogenic
Select item 21538	NM_016038.4(SBDS):c.258+1G>C	SBDS	Single nucleotide variant (splice donor variant)	Shwachman-Diamond syndrome 1 +3 more	GPathogenic
Select item 3195	NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)	SBDS (K62*)	Indel (nonsense)	Shwachman syndrome +4 more	GPathogenic
Select item 265256	NM_016038.4(SBDS):c.120del (p.Ser41fs)	SBDS (S41fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 141731	NM_002485.5(NBN):c.1142del (p.Pro381fs)	NBN (P299fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 6947	NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)	NBN (Y281*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 375604	NM_002485.5(NBN):c.900_924del (p.Gly301fs)	NBN (G219fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 6942	NM_002485.5(NBN):c.836_839del (p.Gln279fs)	NBN (Q279fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GPathogenic
Select item 127878	NM_002485.5(NBN):c.698_701del (p.Lys233fs)	NBN (K151fs)	Deletion (frameshift variant)	Aplastic anemia +4 more	GPathogenic
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	Microcephaly +6 more	GPathogenic
Select item 13709	NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)	PRF1 (W374*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 13721	NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs)	PRF1 (L364fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis +2 more	GPathogenic
Select item 468305	NM_001083116.3(PRF1):c.50del (p.Leu17fs)	PRF1 (L17fs)	Deletion (frameshift variant)	Autoinflammatory syndrome +5 more	GPathogenic
Select item 38925	NM_001099274.3(TINF2):c.862T>C (p.Phe288Leu)	TINF2 (F288L +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	Gnot provided

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Items: 45