C0265965[trait identifier] AND "Sema4, Sema4"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 325

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 465764	NR_001566.3(TERC):n.193G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita +1 more	GUncertain significance
Select item 471889	NM_198253.3(TERT):c.3363G>A (p.Pro1121=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 242240	NM_198253.3(TERT):c.3351C>T (p.Ala1117=)	TERT	Single nucleotide variant (synonymous variant +1 more)	TERT-related disorder +3 more	GLikely benign
Select item 471888	NM_198253.3(TERT):c.3302C>T (p.Thr1101Met)	TERT (T1101M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 701359	NM_198253.3(TERT):c.3267C>T (p.Tyr1089=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +5 more	GConflicting classifications of pathogenicity
Select item 471885	NM_198253.3(TERT):c.3186C>T (p.Ala1062=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 857286	NM_198253.3(TERT):c.3157+3A>T	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 350518	NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)	TERT (K1050N +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +6 more	GConflicting classifications of pathogenicity
Select item 572727	NM_198253.3(TERT):c.3116C>T (p.Thr1039Met)	TERT (T1039M +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 165376	NM_198253.3(TERT):c.3105C>T (p.Val1035=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +6 more	GConflicting classifications of pathogenicity
Select item 1591580	NM_198253.3(TERT):c.3033-13G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
Select item 1669881	NM_198253.3(TERT):c.3018G>C (p.Leu1006=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +3 more	GConflicting classifications of pathogenicity
Select item 242235	NM_198253.3(TERT):c.2991G>A (p.Val997=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +6 more	GConflicting classifications of pathogenicity
Select item 1537012	NM_198253.3(TERT):c.2844-12C>T	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 228006	NM_198253.3(TERT):c.2793C>T (p.Cys931=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 242230	NM_198253.3(TERT):c.2775C>T (p.His925=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 242229	NM_198253.3(TERT):c.2769G>A (p.Pro923=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 766865	NM_198253.3(TERT):c.2590C>T (p.Leu864=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 263107	NM_198253.3(TERT):c.2517G>A (p.Thr839=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +7 more	GBenign/Likely benign
Select item 699468	NM_198253.3(TERT):c.2469-9C>T	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 265268	NM_198253.3(TERT):c.2455C>T (p.Arg819Cys)	TERT (R819C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 350724	NM_198253.3(TERT):c.2391C>G (p.Ser797=)	TERT	Single nucleotide variant (synonymous variant)	Idiopathic Pulmonary Fibrosis +6 more	GConflicting classifications of pathogenicity
Select item 350725	NM_198253.3(TERT):c.2383-15C>T	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +10 more	GBenign/Likely benign
Select item 242226	NM_198253.3(TERT):c.2355G>A (p.Pro785=)	TERT	Single nucleotide variant (synonymous variant)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 242225	NM_198253.3(TERT):c.2255A>G (p.His752Arg)	TERT (H752R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 726370	NM_198253.3(TERT):c.2250C>T (p.Ala750=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 539199	NM_198253.3(TERT):c.2228G>A (p.Arg743Gln)	TERT (R743Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GConflicting classifications of pathogenicity
Select item 1692100	NM_198253.3(TERT):c.2149T>A (p.Tyr717Asn)	TERT (Y717N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 844907	NM_198253.3(TERT):c.2145C>T (p.Gly715=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 9 +3 more	GConflicting classifications of pathogenicity
Select item 539258	NM_198253.3(TERT):c.2139G>A (p.Val713=)	TERT	Single nucleotide variant (synonymous variant +1 more)	TERT-related disorder +5 more	GBenign/Likely benign
Select item 539268	NM_198253.3(TERT):c.2019C>T (p.Pro673=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GLikely benign
Select item 242221	NM_198253.3(TERT):c.2001C>T (p.Tyr667=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +6 more	GConflicting classifications of pathogenicity
Select item 539228	NM_198253.3(TERT):c.1983G>A (p.Leu661=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GLikely benign
Select item 416276	NM_198253.3(TERT):c.1974G>A (p.Val658=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +7 more	GConflicting classifications of pathogenicity
Select item 416275	NM_198253.3(TERT):c.1968G>A (p.Ser656=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +3 more	GLikely benign
Select item 471843	NM_198253.3(TERT):c.1953C>T (p.Ala651=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 242220	NM_198253.3(TERT):c.1936C>T (p.Arg646Cys)	TERT (R646C)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1158975	NM_198253.3(TERT):c.1890G>T (p.Leu630=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 436979	NM_198253.3(TERT):c.1884C>T (p.Asp628=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 165379	NM_198253.3(TERT):c.1812A>G (p.Ala604=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 650096	NM_198253.3(TERT):c.1657G>A (p.Val553Ile)	TERT (V553I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 539254	NM_198253.3(TERT):c.1656C>T (p.Tyr552=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 228005	NM_198253.3(TERT):c.1574-7G>A	TERT	Single nucleotide variant (intron variant)	Aplastic anemia +10 more	GBenign/Likely benign
Select item 665298	NM_198253.3(TERT):c.1552G>T (p.Ala518Ser)	TERT (A518S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 1692099	NM_198253.3(TERT):c.1546G>A (p.Asp516Asn)	TERT (D516N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 1095028	NM_198253.3(TERT):c.1422C>T (p.Pro474=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 242216	NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)	TERT (R446S)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 212398	NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)	TERT (E441del)	Microsatellite (inframe_deletion +1 more)	Idiopathic Pulmonary Fibrosis +11 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 provided +8 more	GConflicting classifications of pathogenicity
Select item 242211	NM_198253.3(TERT):c.1138C>T (p.Pro380Ser)	TERT (P380S)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +5 more	GBenign
Select item 956943	NM_198253.3(TERT):c.1043G>A (p.Ser348Asn)	TERT (S348N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
Select item 165380	NM_198253.3(TERT):c.969G>A (p.Pro323=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +5 more	GBenign/Likely benign
Select item 471904	NM_198253.3(TERT):c.838G>A (p.Glu280Lys)	TERT (E280K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +6 more	GConflicting classifications of pathogenicity
Select item 471902	NM_198253.3(TERT):c.779G>A (p.Gly260Asp)	TERT (G260D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +4 more	GConflicting classifications of pathogenicity
Select item 970991	NM_198253.3(TERT):c.777G>A (p.Pro259=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 758462	NM_198253.3(TERT):c.702G>A (p.Leu234=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 733305	NM_198253.3(TERT):c.672C>T (p.Arg224=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GLikely benign
Select item 12729	NM_198253.3(TERT):c.604G>A (p.Ala202Thr)	TERT (A202T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +7 more	GConflicting classifications of pathogenicity
Select item 350804	NM_198253.3(TERT):c.572G>C (p.Ser191Thr)	TERT (S191T)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +8 more	GConflicting classifications of pathogenicity
Select item 242242	NM_198253.3(TERT):c.534C>T (p.Leu178=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not provided +7 more	GBenign/Likely benign
Select item 1099645	NM_198253.3(TERT):c.456G>C (p.Leu152=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
Select item 471841	NM_198253.3(TERT):c.193C>G (p.Pro65Ala)	LOC110806263, TERT (P65A)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GConflicting classifications of pathogenicity
Select item 1413513	NM_198253.3(TERT):c.136G>T (p.Ala46Ser)	LOC110806263, TERT (A46S)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 934247	NM_017838.4(NHP2):c.394C>T (p.His132Tyr)	NHP2, RMND5B (H132Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 241213	NM_017838.4(NHP2):c.302G>A (p.Arg101Gln)	NHP2 (R101Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GBenign/Likely benign
Select item 965425	NM_017838.4(NHP2):c.289_290del (p.Met97fs)	NHP2 (M97fs)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 241212	NM_017838.4(NHP2):c.270A>G (p.Val90=)	NHP2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 1691883	NM_017838.4(NHP2):c.235A>T (p.Met79Leu)	NHP2 (M79L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 353025	NM_017838.4(NHP2):c.190G>A (p.Val64Met)	NHP2 (V64M)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 353026	NM_017838.4(NHP2):c.160+11C>T	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita +1 more	GBenign/Likely benign
Select item 416617	NM_017838.4(NHP2):c.72C>T (p.Tyr24=)	NHP2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 662182	NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val)	TINF2 (A401V +1 more)	Single nucleotide variant (missense variant +1 more)	Revesz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 312945	NM_001099274.3(TINF2):c.1290C>G (p.Pro430=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 3 +2 more	GBenign/Likely benign
Select item 862199	NM_001099274.3(TINF2):c.1288C>A (p.Pro430Thr)	TINF2 (P430T +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1366435	NM_001099274.3(TINF2):c.1285C>G (p.Leu429Val)	TINF2 (L429V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1145665	NM_001099274.3(TINF2):c.1285C>T (p.Leu429=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1692544	NM_001099274.3(TINF2):c.1222-11del	TINF2	Deletion (3 prime UTR variant +1 more)	Dyskeratosis congenita	GConflicting classifications of pathogenicity
Select item 413987	NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)	TINF2 (I389T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 857461	NM_001099274.3(TINF2):c.1081A>G (p.Met361Val)	TINF2 (M361V +1 more)	Single nucleotide variant (missense variant +1 more)	TINF2-related disorder +2 more	GUncertain significance
Select item 1395836	NM_001099274.3(TINF2):c.1061+4_1061+7del	TINF2	Microsatellite (frameshift variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 1692543	NM_001099274.3(TINF2):c.1060G>A (p.Glu354Lys)	TINF2 (E319K +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1170761	NM_001099274.3(TINF2):c.1059G>A (p.Lys353=)	TINF2	Single nucleotide variant (synonymous variant)	TINF2-related disorder +1 more	GBenign/Likely benign
Select item 1692551	NM_001099274.3(TINF2):c.864T>C (p.Phe288=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 1692550	NM_001099274.3(TINF2):c.828G>T (p.Arg276Ser)	TINF2 (R241S +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1692549	NM_001099274.3(TINF2):c.823A>C (p.Thr275Pro)	TINF2 (T240P +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1285221	NM_001099274.3(TINF2):c.819C>T (p.Ala273=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 312949	NM_001099274.3(TINF2):c.771C>T (p.His257=)	TINF2	Single nucleotide variant (synonymous variant)	TINF2-related disorder +4 more	GBenign/Likely benign
Select item 38916	NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)	TINF2 (S245Y +1 more)	Single nucleotide variant (missense variant)	Revesz syndrome +4 more	GBenign/Likely benign
Select item 38915	NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)	TINF2 (P236S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1692548	NM_001099274.3(TINF2):c.617C>T (p.Thr206Ile)	TINF2 (T171I +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 977087	NM_001099274.3(TINF2):c.503A>G (p.Gln168Arg)	TINF2 (Q133R +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1168443	NM_001099274.3(TINF2):c.492A>G (p.Thr164=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GBenign/Likely benign
Select item 1692547	NM_001099274.3(TINF2):c.433G>A (p.Ala145Thr)	TINF2 (A110T +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 572348	NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe)	TINF2 (L135F +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1377187	NM_001099274.3(TINF2):c.370G>C (p.Ala124Pro)	TINF2 (A89P +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 529182	NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg)	TINF2 (K101R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1692546	NM_001099274.3(TINF2):c.280G>C (p.Val94Leu)	TINF2 (V94L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1692545	NM_001099274.3(TINF2):c.146T>C (p.Val49Ala)	LOC130055403, TINF2 (V49A)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 577018	NM_001099274.3(TINF2):c.127G>A (p.Ala43Thr)	LOC130055403, TINF2 (A43T)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 312956	NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala)	LOC130055403, TINF2 (G25A)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign

<< First< Prev

Page of 4