ClinVar for MedGen (Select 767488) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1670589	NM_198253.3(TERT):c.2007G>A (p.Arg669=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +5 more	GLikely benign
Select item 1544724	NM_198253.3(TERT):c.375C>T (p.Asn125=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +8 more	GLikely benign
Select item 1412183	NM_198253.3(TERT):c.1070C>G (p.Ala357Gly)	TERT (A357G)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +8 more	GUncertain significance
Select item 1390895	NM_198253.3(TERT):c.124G>C (p.Gly42Arg)	LOC110806263, TERT (G42R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +7 more	GUncertain significance
Select item 906428	NM_198253.3(TERT):c.764C>A (p.Ser255Tyr)	TERT (S255Y)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +8 more	GUncertain significance
Select item 847848	NM_198253.3(TERT):c.847A>C (p.Thr283Pro)	TERT (T283P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +8 more	GUncertain significance
Select item 844907	NM_198253.3(TERT):c.2145C>T (p.Gly715=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GConflicting classifications of pathogenicity
Select item 758712	NM_198253.3(TERT):c.1110C>G (p.Pro370=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +8 more	GLikely benign
Select item 639956	NM_198253.3(TERT):c.895G>A (p.Val299Met)	TERT (V299M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 1 +7 more	GConflicting classifications of pathogenicity
Select item 638818	NM_198253.3(TERT):c.902G>A (p.Arg301His)	TERT (R301H)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +4 more	GUncertain significance
Select item 565378	NM_198253.3(TERT):c.1304T>A (p.Val435Glu)	TERT (V435E)	Single nucleotide variant (missense variant +1 more)	not specified +10 more	GUncertain significance
Select item 539214	NM_198253.3(TERT):c.863C>T (p.Ala288Val)	TERT (A288V)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +10 more	GConflicting classifications of pathogenicity
Select item 539205	NM_198253.3(TERT):c.1954G>A (p.Glu652Lys)	TERT (E652K)	Single nucleotide variant (missense variant +1 more)	Aplastic anemia +9 more	GConflicting classifications of pathogenicity
Select item 539202	NM_198253.3(TERT):c.1393G>C (p.Val465Leu)	TERT (V465L)	Single nucleotide variant (missense variant +1 more)	TERT-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 471857	NM_198253.3(TERT):c.2221G>A (p.Val741Met)	TERT (V741M)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 471849	NM_198253.3(TERT):c.2079C>T (p.Phe693=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +9 more	GLikely benign
Select item 446374	NM_198253.3(TERT):c.2287-5G>A	TERT	Single nucleotide variant (intron variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 416315	NM_198253.3(TERT):c.2190C>T (p.Ala730=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +8 more	GLikely benign
Select item 416292	NM_198253.3(TERT):c.1932G>A (p.Thr644=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +10 more	GLikely benign
Select item 416285	NM_198253.3(TERT):c.3303G>A (p.Thr1101=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +9 more	GLikely benign
Select item 410683	NM_198253.3(TERT):c.159G>C (p.Gln53His)	LOC110806263, TERT (Q53H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +8 more	GUncertain significance
Select item 410678	NM_198253.3(TERT):c.1108C>T (p.Pro370Ser)	TERT (P370S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +9 more	GUncertain significance
Select item 410674	NM_198253.3(TERT):c.1931C>T (p.Thr644Met)	TERT (T644M)	Single nucleotide variant (missense variant +1 more)	not provided +13 more	GConflicting classifications of pathogenicity
Select item 410651	NM_198253.3(TERT):c.336dup (p.Glu113fs)	TERT (E113fs)	Duplication (frameshift variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +7 more	GPathogenic/Likely pathogenic
Select item 350725	NM_198253.3(TERT):c.2383-15C>T	TERT	Single nucleotide variant (intron variant)	not provided +10 more	GBenign/Likely benign
Select item 289326	NM_198253.3(TERT):c.150G>A (p.Leu50=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 268080	NM_198253.3(TERT):c.887A>C (p.His296Pro)	TERT (H296P)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +9 more	GConflicting classifications of pathogenicity
Select item 242210	NM_198253.3(TERT):c.-57A>C	LOC110806263, TERT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 228005	NM_198253.3(TERT):c.1574-7G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +10 more	GBenign/Likely benign
Select item 212398	NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)	TERT (E441del)	Microsatellite (inframe_deletion +1 more)	Dyskeratosis congenita +11 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)	Aplastic anemia +10 more	GBenign
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 36947	NM_198253.3(TERT):c.508G>A (p.Val170Met)	TERT (V170M)	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)	Aplastic anemia +7 more	GUncertain significance
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

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Items: 35