ClinVar for Gene (Select 100533107) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 3588

<< First< Prev

Page of 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
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 3180296	NM_003823.4(TNFRSF6B):c.877C>T (p.Arg293Cys)	RTEL1-TNFRSF6B, TNFRSF6B (R293C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3180295	NM_003823.4(TNFRSF6B):c.851G>T (p.Arg284Met)	RTEL1-TNFRSF6B, TNFRSF6B (R284M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3180294	NM_003823.4(TNFRSF6B):c.724T>C (p.Trp242Arg)	RTEL1-TNFRSF6B, TNFRSF6B (W242R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3180293	NM_003823.4(TNFRSF6B):c.593G>A (p.Gly198Asp)	RTEL1-TNFRSF6B, TNFRSF6B (G198D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3180291	NM_003823.4(TNFRSF6B):c.148G>A (p.Ala50Thr)	RTEL1-TNFRSF6B, TNFRSF6B (A50T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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-TNFRSF6B, RTEL1	Single nucleotide variant (non-coding transcript variant +2 more)	RTEL1-related disorder	GLikely benign
Select item 3032358	NM_003823.4(TNFRSF6B):c.813G>A (p.Ala271=)	RTEL1-TNFRSF6B, TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	TNFRSF6B-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 3031681	NM_003823.4(TNFRSF6B):c.34C>G (p.Leu12Val)	RTEL1-TNFRSF6B, TNFRSF6B (A1314G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	TNFRSF6B-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 3023708	NM_003823.4(TNFRSF6B):c.295G>A (p.Glu99Lys)	RTEL1-TNFRSF6B, TNFRSF6B (E99K)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3023340	NM_003823.4(TNFRSF6B):c.366C>T (p.His122=)	RTEL1-TNFRSF6B, TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3019417	NM_003823.4(TNFRSF6B):c.418G>A (p.Ala140Thr)	RTEL1-TNFRSF6B, TNFRSF6B (A140T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3014615	NM_003823.4(TNFRSF6B):c.367G>A (p.Ala123Thr)	RTEL1-TNFRSF6B, TNFRSF6B (A123T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3013250	NM_003823.4(TNFRSF6B):c.692G>A (p.Arg231Gln)	RTEL1-TNFRSF6B, TNFRSF6B (R231Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3012184	NM_003823.4(TNFRSF6B):c.137G>T (p.Arg46Leu)	RTEL1-TNFRSF6B, TNFRSF6B (R46L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3010040	NM_003823.4(TNFRSF6B):c.253C>T (p.Leu85=)	RTEL1-TNFRSF6B, TNFRSF6B (P1387L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3008265	NM_003823.4(TNFRSF6B):c.654T>C (p.Phe218=)	TNFRSF6B, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3006932	NM_003823.4(TNFRSF6B):c.666G>A (p.Gln222=)	RTEL1-TNFRSF6B, TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3006213	NM_003823.4(TNFRSF6B):c.213C>T (p.Gly71=)	RTEL1-TNFRSF6B, TNFRSF6B (P1374S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3002136	NM_003823.4(TNFRSF6B):c.889C>A (p.Leu297Ile)	RTEL1-TNFRSF6B, TNFRSF6B (L297I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3000132	NM_003823.4(TNFRSF6B):c.129A>T (p.Thr43=)	RTEL1-TNFRSF6B, TNFRSF6B (R1346W)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2997238	NM_003823.4(TNFRSF6B):c.771_791del (p.Arg258_Leu264del)	RTEL1-TNFRSF6B, TNFRSF6B	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2995606	NM_003823.4(TNFRSF6B):c.55C>T (p.Pro19Ser)	RTEL1-TNFRSF6B, TNFRSF6B (P19S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2993947	NM_003823.4(TNFRSF6B):c.218G>A (p.Cys73Tyr)	RTEL1-TNFRSF6B, TNFRSF6B (C73Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2988169	NM_003823.4(TNFRSF6B):c.752C>T (p.Ala251Val)	TNFRSF6B, RTEL1-TNFRSF6B (A251V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2985007	NM_003823.4(TNFRSF6B):c.70G>A (p.Val24Met)	RTEL1-TNFRSF6B, TNFRSF6B (V24M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2984727	NM_003823.4(TNFRSF6B):c.532G>C (p.Gly178Arg)	RTEL1-TNFRSF6B, TNFRSF6B (G178R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2982986	NM_003823.4(TNFRSF6B):c.424+19G>A	RTEL1-TNFRSF6B, TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982728	NM_003823.4(TNFRSF6B):c.638G>A (p.Arg213His)	RTEL1-TNFRSF6B, TNFRSF6B (R213H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2982608	NM_003823.4(TNFRSF6B):c.56C>T (p.Pro19Leu)	RTEL1-TNFRSF6B, TNFRSF6B (P19L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2980155	NM_003823.4(TNFRSF6B):c.800C>T (p.Ala267Val)	RTEL1-TNFRSF6B, TNFRSF6B (A267V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2969603	NM_003823.4(TNFRSF6B):c.529C>T (p.Leu177=)	RTEL1-TNFRSF6B, TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2967062	NM_003823.4(TNFRSF6B):c.769C>T (p.Leu257=)	RTEL1-TNFRSF6B, TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2965901	NM_003823.4(TNFRSF6B):c.319G>A (p.Ala107Thr)	RTEL1-TNFRSF6B, TNFRSF6B (A107T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2965792	NM_003823.4(TNFRSF6B):c.722_723delinsAA (p.Gly241Glu)	RTEL1-TNFRSF6B, TNFRSF6B (G241E)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2964729	NM_003823.4(TNFRSF6B):c.833_841del (p.Gln278_Leu280del)	RTEL1-TNFRSF6B, TNFRSF6B	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2960320	NM_003823.4(TNFRSF6B):c.392C>T (p.Ser131Leu)	RTEL1-TNFRSF6B, TNFRSF6B (S131L)	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 (synonymous 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)	Dyskeratosis congenita, autosomal recessive 5 +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-TNFRSF6B, RTEL1	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, RTEL1-TNFRSF6B	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, RTEL1-TNFRSF6B	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-TNFRSF6B, RTEL1	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, RTEL1-TNFRSF6B	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
Select item 2951564	NM_001283009.2(RTEL1):c.1262A>C (p.Tyr421Ser)	RTEL1, RTEL1-TNFRSF6B (Y421S +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 2951467	NM_001283009.2(RTEL1):c.3500-8G>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 2951343	NM_001283009.2(RTEL1):c.3110-13A>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 2951208	NM_001283009.2(RTEL1):c.2414-18A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign

<< First< Prev

Page of 36