ClinVar for MedGen (Select 1645250) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24448911.	NR_001566.1(TERC):n.385G>A GRCh37: Chr3:169482464 GRCh38: Chr3:169764676	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 24277932.	NC_000003.11:g.(?_169482398)_(169482848_?)dup GRCh37: Chr3:169482398-169482848	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 24208793.	NR_001566.1(TERC):n.244C>G GRCh37: Chr3:169482605 GRCh38: Chr3:169764817	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 21992094.	NR_001566.1(TERC):n.306T>C GRCh37: Chr3:169482543 GRCh38: Chr3:169764755	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 21949205.	NR_001566.1(TERC):n.332C>T GRCh37: Chr3:169482517 GRCh38: Chr3:169764729	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 21946816.	NR_001566.1(TERC):n.141C>T GRCh37: Chr3:169482708 GRCh38: Chr3:169764920	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 21885647.	NR_001566.1(TERC):n.20T>G GRCh37: Chr3:169482829 GRCh38: Chr3:169765041	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 21826048.	NR_001566.1(TERC):n.90C>T GRCh37: Chr3:169482759 GRCh38: Chr3:169764971	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 21717559.	NR_001566.1(TERC):n.359_361delinsAAG GRCh37: Chr3:169482488-169482490 GRCh38: Chr3:169764700-169764702	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 215728810.	NR_001566.1(TERC):n.19C>T GRCh37: Chr3:169482830 GRCh38: Chr3:169765042	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 215484611.	NR_001566.1(TERC):n.106C>T GRCh37: Chr3:169482743 GRCh38: Chr3:169764955	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 215194312.	NR_001566.1(TERC):n.210A>C GRCh37: Chr3:169482639 GRCh38: Chr3:169764851	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 214746313.	NR_001566.1(TERC):n.190C>T GRCh37: Chr3:169482659 GRCh38: Chr3:169764871	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 214636814.	NR_001566.1(TERC):n.26G>T GRCh37: Chr3:169482823 GRCh38: Chr3:169765035	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 214629115.	NR_001566.1(TERC):n.163G>C GRCh37: Chr3:169482686 GRCh38: Chr3:169764898	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 213978616.	NR_001566.1(TERC):n.40T>G GRCh37: Chr3:169482809 GRCh38: Chr3:169765021	TERC, LOC110806306		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 213295817.	NR_001566.1(TERC):n.76G>A GRCh37: Chr3:169482773 GRCh38: Chr3:169764985	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213154218.	NR_001566.1(TERC):n.335G>T GRCh37: Chr3:169482514 GRCh38: Chr3:169764726	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 213092219.	NR_001566.1(TERC):n.327T>C GRCh37: Chr3:169482522 GRCh38: Chr3:169764734	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 212617720.	NR_001566.1(TERC):n.176dup GRCh37: Chr3:169482672-169482673 GRCh38: Chr3:169764884-169764885	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212594221.	NR_001566.1(TERC):n.279G>T GRCh37: Chr3:169482570 GRCh38: Chr3:169764782	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 212082422.	NR_001566.1(TERC):n.253G>A GRCh37: Chr3:169482596 GRCh38: Chr3:169764808	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 212014623.	NR_001566.1(TERC):n.155T>G GRCh37: Chr3:169482694 GRCh38: Chr3:169764906	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211774524.	NR_001566.1(TERC):n.72C>T GRCh37: Chr3:169482777 GRCh38: Chr3:169764989	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 211205625.	NR_001566.1(TERC):n.433G>A GRCh37: Chr3:169482416 GRCh38: Chr3:169764628	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 210574626.	NR_001566.1(TERC):n.116C>G GRCh37: Chr3:169482733 GRCh38: Chr3:169764945	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 210160427.	NR_001566.1(TERC):n.7C>T GRCh37: Chr3:169482842 GRCh38: Chr3:169765054	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 209963328.	NR_001566.1(TERC):n.43T>C GRCh37: Chr3:169482806 GRCh38: Chr3:169765018	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 209821429.	NR_001566.1(TERC):n.114_115del GRCh37: Chr3:169482734-169482735 GRCh38: Chr3:169764946-169764947	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Likely pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 208505030.	NR_001566.1(TERC):n.192C>G GRCh37: Chr3:169482657 GRCh38: Chr3:169764869	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 208107031.	NR_001566.1(TERC):n.26G>A GRCh37: Chr3:169482823 GRCh38: Chr3:169765035	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 207726532.	NR_001566.1(TERC):n.44G>T GRCh37: Chr3:169482805 GRCh38: Chr3:169765017	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 206751933.	NR_001566.1(TERC):n.149C>T GRCh37: Chr3:169482700 GRCh38: Chr3:169764912	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 205976034.	NR_001566.1(TERC):n.62A>G GRCh37: Chr3:169482787 GRCh38: Chr3:169764999	TERC, LOC110806306		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 205934635.	NR_001566.1(TERC):n.353G>C GRCh37: Chr3:169482496 GRCh38: Chr3:169764708	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205531036.	NR_001566.1(TERC):n.380G>A GRCh37: Chr3:169482469 GRCh38: Chr3:169764681	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 204953937.	NR_001566.1(TERC):n.345G>T GRCh37: Chr3:169482504 GRCh38: Chr3:169764716	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 204347738.	NR_001566.1(TERC):n.83T>C GRCh37: Chr3:169482766 GRCh38: Chr3:169764978	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 203472239.	NR_001566.1(TERC):n.99T>C GRCh37: Chr3:169482750 GRCh38: Chr3:169764962	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 202947340.	NR_001566.1(TERC):n.31G>C GRCh37: Chr3:169482818 GRCh38: Chr3:169765030	TERC, LOC110806306		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 202495241.	NR_001566.1(TERC):n.21G>C GRCh37: Chr3:169482828 GRCh38: Chr3:169765040	TERC, LOC110806306		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 202275242.	NR_001566.1(TERC):n.199C>A GRCh37: Chr3:169482650 GRCh38: Chr3:169764862	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 202015143.	NR_001566.1(TERC):n.275C>T GRCh37: Chr3:169482574 GRCh38: Chr3:169764786	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 200172544.	NR_001566.1(TERC):n.65G>A GRCh37: Chr3:169482784 GRCh38: Chr3:169764996	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 199654645.	NR_001566.1(TERC):n.228G>T GRCh37: Chr3:169482621 GRCh38: Chr3:169764833	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 199652946.	NR_001566.1(TERC):n.389C>A GRCh37: Chr3:169482460 GRCh38: Chr3:169764672	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 199605647.	NR_001566.1(TERC):n.211C>A GRCh37: Chr3:169482638 GRCh38: Chr3:169764850	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 197707348.	NR_001566.1(TERC):n.327T>A GRCh37: Chr3:169482522 GRCh38: Chr3:169764734	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 195022549.	NR_001566.1(TERC):n.184T>C GRCh37: Chr3:169482665 GRCh38: Chr3:169764877	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 194829050.	NR_001566.1(TERC):n.43dup GRCh37: Chr3:169482805-169482806 GRCh38: Chr3:169765017-169765018	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 194051051.	NR_001566.1(TERC):n.87C>T GRCh37: Chr3:169482762 GRCh38: Chr3:169764974	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 192391552.	NR_001566.1(TERC):n.26G>C GRCh37: Chr3:169482823 GRCh38: Chr3:169765035	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 191309053.	NR_001566.1(TERC):n.32T>C GRCh37: Chr3:169482817 GRCh38: Chr3:169765029	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 191300854.	NR_001566.1(TERC):n.339G>A GRCh37: Chr3:169482510 GRCh38: Chr3:169764722	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 189716455.	NR_001566.1(TERC):n.18C>A GRCh37: Chr3:169482831 GRCh38: Chr3:169765043	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 189624756.	NR_001566.1(TERC):n.12G>A GRCh37: Chr3:169482837 GRCh38: Chr3:169765049	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 154472457.	NM_198253.3(TERT):c.375C>T (p.Asn125=) GRCh37: Chr5:1294626 GRCh38: Chr5:1294511	TERT		Hereditary cancer-predisposing syndrome, Dyskeratosis congenita, Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis, Interstitial lung disease 2, Melanoma, cutaneous malignant, susceptibility to, 9, Dyskeratosis congenita, autosomal dominant 1, Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, Aplastic anemia, Dyskeratosis congenita, autosomal dominant 2, Acute myeloid leukemia ...see more	Likely benign (Feb 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152318258.	NR_001566.1(TERC):n.211C>T GRCh37: Chr3:169482638 GRCh38: Chr3:169764850	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 151976659.	NR_001566.1(TERC):n.56C>G GRCh37: Chr3:169482793 GRCh38: Chr3:169765005	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 151706660.	NR_001566.1(TERC):n.397G>A GRCh37: Chr3:169482452 GRCh38: Chr3:169764664	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 151688461.	NM_001099274.3(TINF2):c.1285C>A (p.Leu429Ile) GRCh37: Chr14:24709074 GRCh38: Chr14:24239868	TINF2	L394I, L429I	Dyskeratosis congenita, autosomal dominant 3, Revesz syndrome, Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita	Uncertain significance (Jan 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150347062.	NR_001566.1(TERC):n.408C>T GRCh37: Chr3:169482441 GRCh38: Chr3:169764653	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 150264463.	NR_001566.1(TERC):n.148C>G GRCh37: Chr3:169482701 GRCh38: Chr3:169764913	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 149878364.	NR_001566.1(TERC):n.401C>T GRCh37: Chr3:169482448 GRCh38: Chr3:169764660	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 149701965.	NR_001566.1(TERC):n.54A>G GRCh37: Chr3:169482795 GRCh38: Chr3:169765007	TERC, LOC110806306		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Sep 22, 2021)	criteria provided, single submitter
Select item 149372766.	NR_001566.1(TERC):n.297C>T GRCh37: Chr3:169482552 GRCh38: Chr3:169764764	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 7, 2021)	criteria provided, single submitter
Select item 149338867.	NR_001566.1(TERC):n.31G>A GRCh37: Chr3:169482818 GRCh38: Chr3:169765030	TERC, LOC110806306		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jul 8, 2021)	criteria provided, single submitter
Select item 147967768.	NR_001566.1(TERC):n.243C>T GRCh37: Chr3:169482606 GRCh38: Chr3:169764818	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 147870469.	NR_001566.1(TERC):n.331T>C GRCh37: Chr3:169482518 GRCh38: Chr3:169764730	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jul 6, 2021)	criteria provided, single submitter
Select item 147855670.	NR_001566.1(TERC):n.283G>T GRCh37: Chr3:169482566 GRCh38: Chr3:169764778	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 2, 2021)	criteria provided, single submitter
Select item 146696571.	NR_001566.1(TERC):n.209dup GRCh37: Chr3:169482639-169482640 GRCh38: Chr3:169764851-169764852	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 146389072.	NR_001566.1(TERC):n.349T>C GRCh37: Chr3:169482500 GRCh38: Chr3:169764712	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 146367273.	NR_001566.1(TERC):n.153G>T GRCh37: Chr3:169482696 GRCh38: Chr3:169764908	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 146221874.	NR_001566.1(TERC):n.424G>T GRCh37: Chr3:169482425 GRCh38: Chr3:169764637	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 145104375.	NR_001566.1(TERC):n.432A>C GRCh37: Chr3:169482417 GRCh38: Chr3:169764629	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 144570676.	NR_001566.1(TERC):n.340A>G GRCh37: Chr3:169482509 GRCh38: Chr3:169764721	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Sep 9, 2021)	criteria provided, single submitter
Select item 144382477.	NR_001566.1(TERC):n.145C>T GRCh37: Chr3:169482704 GRCh38: Chr3:169764916	TERC, LOC110806306		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 144375078.	NR_001566.1(TERC):n.296C>A GRCh37: Chr3:169482553 GRCh38: Chr3:169764765	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter
Select item 144179279.	NR_001566.1(TERC):n.29T>C GRCh37: Chr3:169482820 GRCh38: Chr3:169765032	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 143086780.	NR_001566.1(TERC):n.431C>T GRCh37: Chr3:169482418 GRCh38: Chr3:169764630	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 142955381.	NR_001566.1(TERC):n.405A>G GRCh37: Chr3:169482444 GRCh38: Chr3:169764656	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 6, 2021)	criteria provided, single submitter
Select item 142919782.	NR_001566.1(TERC):n.357T>C GRCh37: Chr3:169482492 GRCh38: Chr3:169764704	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 142863783.	NR_001566.1(TERC):n.125del GRCh37: Chr3:169482724 GRCh38: Chr3:169764936	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 142728084.	NR_001566.1(TERC):n.440G>A GRCh37: Chr3:169482409 GRCh38: Chr3:169764621	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 141608385.	NR_001566.1(TERC):n.439G>C GRCh37: Chr3:169482410 GRCh38: Chr3:169764622	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 2, 2021)	criteria provided, single submitter
Select item 141218386.	NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) GRCh37: Chr5:1293931 GRCh38: Chr5:1293816	TERT	A357G	Dyskeratosis congenita, autosomal dominant 1, Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, Melanoma, cutaneous malignant, susceptibility to, 9, Interstitial lung disease 2, Aplastic anemia, Acute myeloid leukemia, Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita, autosomal dominant 2, Hereditary cancer-predisposing syndrome, Dyskeratosis congenita ...see more	Uncertain significance (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140918287.	NR_001566.1(TERC):n.404G>T GRCh37: Chr3:169482445 GRCh38: Chr3:169764657	TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 140518988.	NR_001566.1(TERC):n.131C>T GRCh37: Chr3:169482718 GRCh38: Chr3:169764930	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 139657989.	NR_001566.1(TERC):n.88C>A GRCh37: Chr3:169482761 GRCh38: Chr3:169764973	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 139217890.	NR_001566.1(TERC):n.60G>A GRCh37: Chr3:169482789 GRCh38: Chr3:169765001	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 139089591.	NM_198253.3(TERT):c.124G>C (p.Gly42Arg) GRCh37: Chr5:1294981 GRCh38: Chr5:1294866	LOC110806263, TERT	G42R	Dyskeratosis congenita, autosomal dominant 1, Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, Melanoma, cutaneous malignant, susceptibility to, 9, Interstitial lung disease 2, Aplastic anemia, Acute myeloid leukemia, Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita, autosomal dominant 2	Uncertain significance (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139048692.	NC_000003.11:g.(?_169482388)_(170130102_?)dup GRCh37: Chr3:169482388-170130102	ACTRT3, GPR160, LRRC31, LRRC34, LRRIQ4, MYNN, PHC3, PRKCI, SAMD7, SEC62, SKIL, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Oct 31, 2021)	criteria provided, single submitter
Select item 138987793.	NR_001566.1(TERC):n.198C>T GRCh37: Chr3:169482651 GRCh38: Chr3:169764863	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 138700694.	NR_001566.1(TERC):n.38T>A GRCh37: Chr3:169482811 GRCh38: Chr3:169765023	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 138627195.	NR_001566.1(TERC):n.357T>A GRCh37: Chr3:169482492 GRCh38: Chr3:169764704	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 138553896.	NM_001099274.3(TINF2):c.802G>C (p.Val268Leu) GRCh37: Chr14:24709884 GRCh38: Chr14:24240678	TINF2	V268L, V233L	not specified, Dyskeratosis congenita, Revesz syndrome, Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita, autosomal dominant 3	Uncertain significance (Jun 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 138133897.	NR_001566.1(TERC):n.39T>C GRCh37: Chr3:169482810 GRCh38: Chr3:169765022	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 136882698.	NR_001566.1(TERC):n.255C>T GRCh37: Chr3:169482594 GRCh38: Chr3:169764806	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 136675699.	NR_001566.1(TERC):n.163G>A GRCh37: Chr3:169482686 GRCh38: Chr3:169764898	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jul 12, 2021)	criteria provided, single submitter
Select item 1365229100.	NR_001566.1(TERC):n.201dup GRCh37: Chr3:169482647-169482648 GRCh38: Chr3:169764859-169764860	LOC110806306, TERC		Dyskeratosis congenita, autosomal dominant 1	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter

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