Related gene-specific medical variations for Gene (Select 51750) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371369	NM_001283009.2(RTEL1):c.2084T>A (p.Ile695Asn)	RTEL1, RTEL1-TNFRSF6B (I472N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3370842	NM_001283009.2(RTEL1):c.3253G>A (p.Ala1085Thr)	RTEL1, RTEL1-TNFRSF6B (A1085T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3367995	NM_001283009.2(RTEL1):c.2930G>T (p.Gly977Val)	RTEL1, RTEL1-TNFRSF6B (G1001V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3365289	NM_001283009.2(RTEL1):c.2883G>T (p.Lys961Asn)	RTEL1, RTEL1-TNFRSF6B (K738N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3362163	NM_001283009.2(RTEL1):c.1418G>T (p.Arg473Leu)	RTEL1 (R250L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3361870	NM_001283009.2(RTEL1):c.1207G>C (p.Asp403His)	RTEL1 (D180H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3361257	NM_001283009.2(RTEL1):c.1690C>T (p.Pro564Ser)	RTEL1 (P341S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3350156	NM_001283009.2(RTEL1):c.623C>G (p.Pro208Arg)	RTEL1, RTEL1-TNFRSF6B (P208R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	RTEL1-related disorder	GUncertain significance
Select item 3347851	NM_001283009.2(RTEL1):c.3109+1G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	RTEL1-related disorder	GLikely pathogenic
Select item 3346368	NM_001283009.2(RTEL1):c.3581G>A (p.Gly1194Glu)	RTEL1, RTEL1-TNFRSF6B (G1194E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder	GUncertain significance
Select item 3344634	NM_001283009.2(RTEL1):c.1722+1G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	RTEL1-related disorder	GLikely pathogenic
Select item 3343033	NM_001283009.2(RTEL1):c.2495G>A (p.Arg832Lys)	RTEL1, RTEL1-TNFRSF6B (R609K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3342928	NM_001283009.2(RTEL1):c.1595G>A (p.Arg532Gln)	RTEL1, RTEL1-TNFRSF6B (R309Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3315628	NM_001283009.2(RTEL1):c.194A>G (p.Asp65Gly)	RTEL1, RTEL1-TNFRSF6B (D65G)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3315627	NM_001283009.2(RTEL1):c.2999C>G (p.Thr1000Arg)	RTEL1, RTEL1-TNFRSF6B (T777R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3315625	NM_001283009.2(RTEL1):c.1837G>T (p.Gly613Trp)	RTEL1, RTEL1-TNFRSF6B (G613W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3315624	NM_001283009.2(RTEL1):c.440A>G (p.His147Arg)	RTEL1, RTEL1-TNFRSF6B (H147R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3315623	NM_001283009.2(RTEL1):c.2941G>C (p.Glu981Gln)	RTEL1, RTEL1-TNFRSF6B (E1005Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3315621	NM_001283009.2(RTEL1):c.997G>C (p.Glu333Gln)	RTEL1, RTEL1-TNFRSF6B (E333Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3255382	NM_001283009.2(RTEL1):c.1910A>G (p.Asn637Ser)	RTEL1, RTEL1-TNFRSF6B (N414S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	GUncertain significance
Select item 3253318	NM_001283009.2(RTEL1):c.225G>C (p.Arg75Ser)	RTEL1, RTEL1-TNFRSF6B (R75S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3253217	NM_001283009.2(RTEL1):c.1384C>G (p.His462Asp)	RTEL1, RTEL1-TNFRSF6B (H239D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3248306	NC_000020.10:g.(?_62324287)_(62324806_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 3248305	NC_000020.10:g.(?_62316041)_(62319096_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 3248304	NC_000020.10:g.(?_62290756)_(62297442_?)dup	RTEL1	Duplication	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 3248303	NC_000020.10:g.(?_62303889)_(62312092_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 3248302	NC_000020.10:g.(?_62303889)_(62305466_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 3248301	NC_000020.10:g.(?_62290756)_(62324646_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 3248300	NC_000020.10:g.(?_62309478)_(62324656_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 3240386	NM_001283009.2(RTEL1):c.3650G>A (p.Trp1217Ter)	RTEL1, RTEL1-TNFRSF6B (W1217* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 3240385	NM_001283009.2(RTEL1):c.619dup (p.Cys207fs)	RTEL1, RTEL1-TNFRSF6B (C207fs +1 more)	Duplication (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 3240384	NM_001283009.2(RTEL1):c.1081del (p.Thr361fs)	RTEL1, RTEL1-TNFRSF6B (T138fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 3240383	NM_001283009.2(RTEL1):c.2532_2533del (p.Ala845fs)	RTEL1, RTEL1-TNFRSF6B (A622fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 3240382	NM_001283009.2(RTEL1):c.3406_3409dup (p.Gly1137fs)	RTEL1-TNFRSF6B, RTEL1 (G1137fs +2 more)	Duplication (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 3240381	NM_001283009.2(RTEL1):c.302-1G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 3239580	NM_001283009.2(RTEL1):c.3411C>T (p.Gly1137=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3239506	NM_001283009.2(RTEL1):c.3199G>A (p.Ala1067Thr)	RTEL1, RTEL1-TNFRSF6B (A1067T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3237360	NM_001283009.2(RTEL1):c.396-43T>C	RTEL1, RTEL1-TNFRSF6B (L142S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 3237359	NM_001283009.2(RTEL1):c.692A>T (p.Asp231Val)	RTEL1, RTEL1-TNFRSF6B (D231V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	GUncertain significance
Select item 3237358	NM_001283009.2(RTEL1):c.3292G>C (p.Val1098Leu)	RTEL1, RTEL1-TNFRSF6B (V1098L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	GUncertain significance
Select item 3228188	NM_001283009.2(RTEL1):c.636C>T (p.Ser212=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3228187	NM_001283009.2(RTEL1):c.2792T>A (p.Leu931Gln)	RTEL1, RTEL1-TNFRSF6B (L708Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3228186	NM_001283009.2(RTEL1):c.2768A>C (p.Lys923Thr)	RTEL1, RTEL1-TNFRSF6B (K700T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3228185	NM_001283009.2(RTEL1):c.237G>A (p.Glu79=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3228184	NM_001283009.2(RTEL1):c.2173C>T (p.Pro725Ser)	RTEL1, RTEL1-TNFRSF6B (P502S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156818	NM_001283009.2(RTEL1):c.536A>G (p.Glu179Gly)	RTEL1, RTEL1-TNFRSF6B (E179G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3156817	NM_001283009.2(RTEL1):c.511T>A (p.Ser171Thr)	RTEL1, RTEL1-TNFRSF6B (S195T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3156816	NM_001283009.2(RTEL1):c.505A>G (p.Ser169Gly)	RTEL1, RTEL1-TNFRSF6B (S193G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3156815	NM_001283009.2(RTEL1):c.3625C>G (p.Pro1209Ala)	RTEL1, RTEL1-TNFRSF6B (P986A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156814	NM_001283009.2(RTEL1):c.3583G>A (p.Ala1195Thr)	RTEL1, RTEL1-TNFRSF6B (A972T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156812	NM_001283009.2(RTEL1):c.3209C>T (p.Ala1070Val)	RTEL1, RTEL1-TNFRSF6B (A1094V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156811	NM_001283009.2(RTEL1):c.3133T>C (p.Trp1045Arg)	RTEL1, RTEL1-TNFRSF6B (W1045R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156810	NM_001283009.2(RTEL1):c.2839A>G (p.Asn947Asp)	RTEL1, RTEL1-TNFRSF6B (N971D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156809	NM_001283009.2(RTEL1):c.1802C>T (p.Thr601Ile)	RTEL1, RTEL1-TNFRSF6B (T601I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156808	NM_001283009.2(RTEL1):c.1490C>T (p.Pro497Leu)	RTEL1, RTEL1-TNFRSF6B (P497L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3061543	NM_001283009.2(RTEL1):c.2709G>A (p.Val903=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder	GLikely benign
Select item 3055325	NM_001283009.2(RTEL1):c.1279C>T (p.Pro427Ser)	RTEL1, RTEL1-TNFRSF6B (P204S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder	GUncertain significance
Select item 3053021	NM_001283009.2(RTEL1):c.396-75C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related disorder	GLikely benign
Select item 3050715	NM_001283009.2(RTEL1):c.3344-7C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related disorder	GLikely benign
Select item 3034453	NM_001283009.2(RTEL1):c.351G>C (p.Ser117=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	RTEL1-related disorder	GLikely benign
Select item 3032251	NM_001283009.2(RTEL1):c.2467G>A (p.Glu823Lys)	RTEL1, RTEL1-TNFRSF6B (E600K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder	GUncertain significance
Select item 3031105	NM_001283009.2(RTEL1):c.6C>T (p.Pro2=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	RTEL1-related disorder	GLikely benign
Select item 3027305	NM_001283009.2(RTEL1):c.5C>A (p.Pro2His)	RTEL1, RTEL1-TNFRSF6B (P2H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3026917	NM_001283009.2(RTEL1):c.1126C>G (p.Leu376Val)	RTEL1, RTEL1-TNFRSF6B (L153V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2954281	NM_001283009.2(RTEL1):c.270C>A (p.Gly90=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2954279	NM_001283009.2(RTEL1):c.3033T>G (p.Ala1011=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2954177	NM_001283009.2(RTEL1):c.1267-17G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2954080	NM_001283009.2(RTEL1):c.1636+19C>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2954042	NM_001283009.2(RTEL1):c.1482-11G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2953992	NM_001283009.2(RTEL1):c.1329C>T (p.Thr443=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2953836	NM_001283009.2(RTEL1):c.700-8T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2953743	NM_001283009.2(RTEL1):c.3525del (p.Lys1176fs)	RTEL1, RTEL1-TNFRSF6B (K1176fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 2953717	NM_001283009.2(RTEL1):c.102+16C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2953656	NM_001283009.2(RTEL1):c.1440C>A (p.Gly480=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2953460	NM_001283009.2(RTEL1):c.3360G>A (p.Val1120=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2953392	NM_001283009.2(RTEL1):c.2142-18G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2953163	NM_001283009.2(RTEL1):c.3343+11C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2953159	NM_001283009.2(RTEL1):c.2663T>G (p.Val888Gly)	RTEL1, RTEL1-TNFRSF6B (V665G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance
Select item 2953149	NM_001283009.2(RTEL1):c.3499+1G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely pathogenic
Select item 2953148	NM_001283009.2(RTEL1):c.2557-15C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2953135	NM_001283009.2(RTEL1):c.2295del (p.Ser767fs)	RTEL1, RTEL1-TNFRSF6B (S767fs +2 more)	Deletion (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic
Select item 2952996	NM_001283009.2(RTEL1):c.2141+14G>C	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952831	NM_001283009.2(RTEL1):c.3109+1G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely pathogenic
Select item 2952825	NM_001283009.2(RTEL1):c.302-15_302-12del	RTEL1, RTEL1-TNFRSF6B	Microsatellite (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952731	NM_001283009.2(RTEL1):c.3500-9del	RTEL1-TNFRSF6B, RTEL1	Deletion (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952632	NM_001283009.2(RTEL1):c.2622G>C (p.Gly874=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952597	NM_001283009.2(RTEL1):c.642C>T (p.Asn214=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952351	NM_001283009.2(RTEL1):c.687G>A (p.Leu229=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952349	NM_001283009.2(RTEL1):c.2414-6C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952292	NM_001283009.2(RTEL1):c.2026-12C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952155	NM_001283009.2(RTEL1):c.2441G>T (p.Ser814Ile)	RTEL1, RTEL1-TNFRSF6B (S814I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance
Select item 2952088	NM_001283009.2(RTEL1):c.2004C>A (p.Gly668=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952072	NM_001283009.2(RTEL1):c.2034T>C (p.Ser678=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951997	NM_001283009.2(RTEL1):c.2928T>G (p.Cys976Trp)	RTEL1, RTEL1-TNFRSF6B (C753W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance
Select item 2951872	NM_001283009.2(RTEL1):c.2487G>A (p.Gln829=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951833	NM_001283009.2(RTEL1):c.2851+7T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951744	NM_001283009.2(RTEL1):c.1135+7G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951740	NM_001283009.2(RTEL1):c.1267-14C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951727	NM_001283009.2(RTEL1):c.2993-15A>G	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951618	NM_001283009.2(RTEL1):c.2413+1G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely pathogenic

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