ClinVar for MedGen (Select 78580) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333250	NM_001143992.2(WRAP53):c.1516C>T (p.Arg506Cys)	WRAP53 (R506C)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3333249	NM_001143992.2(WRAP53):c.897T>C (p.Thr299=)	WRAP53	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 3272184	NM_001363.5(DKC1):c.1232C>T (p.Thr411Ile)	DKC1 (T411I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	SSR4, TEX28 +40 more	Deletion	Spastic paraplegia +6 more	GPathogenic
Select item 3242938	NC_000017.10:g.(?_8129271)_(8134741_?)del	CTC1	Deletion	Dyskeratosis congenita	GPathogenic
Select item 3242937	NC_000017.10:g.(?_8146283)_(8151354_?)del	CTC1	Deletion	Dyskeratosis congenita	GPathogenic
Select item 3238615	NM_198253.3(TERT):c.363C>T (p.Ser121=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238614	NM_198253.3(TERT):c.350C>T (p.Thr117Ile)	TERT (T117I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238613	NM_198253.3(TERT):c.3387C>T (p.Thr1129=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238612	NM_198253.3(TERT):c.3343C>G (p.Leu1115Val)	TERT (L1052V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238611	NM_198253.3(TERT):c.3320T>A (p.Leu1107His)	TERT (L1044H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 3238610	NM_198253.3(TERT):c.3319C>T (p.Leu1107Phe)	TERT (L1044F +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238609	NM_198253.3(TERT):c.3309G>C (p.Leu1103=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238608	NM_198253.3(TERT):c.3307C>T (p.Leu1103=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238607	NM_198253.3(TERT):c.3303G>T (p.Thr1101=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238606	NM_198253.3(TERT):c.3289A>G (p.Arg1097Gly)	TERT (R1034G +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238605	NM_198253.3(TERT):c.3273A>G (p.Pro1091=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238604	NM_198253.3(TERT):c.326G>A (p.Gly109Glu)	TERT (G109E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238603	NM_198253.3(TERT):c.3257G>T (p.Arg1086Leu)	TERT (R1023L +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238602	NM_198253.3(TERT):c.3240C>G (p.Leu1080=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238601	NM_198253.3(TERT):c.3227A>C (p.Gln1076Pro)	TERT (Q1013P +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238600	NM_198253.3(TERT):c.2436C>A (p.Phe812Leu)	TERT (F812L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GLikely benign
Select item 3238599	NM_198253.3(TERT):c.317G>C (p.Gly106Ala)	TERT (G106A)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238598	NM_198253.3(TERT):c.1174C>T (p.Leu392=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238597	NM_198253.3(TERT):c.3145G>C (p.Ala1049Pro)	TERT (A1049P +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238596	NM_198253.3(TERT):c.3134C>T (p.Ser1045Phe)	TERT (S1045F +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238595	NM_198253.3(TERT):c.311T>A (p.Leu104Gln)	TERT (L104Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238594	NM_198253.3(TERT):c.3106A>G (p.Ile1036Val)	TERT (I1036V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238593	NM_198253.3(TERT):c.308T>G (p.Leu103Arg)	TERT (L103R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238592	NM_198253.3(TERT):c.307C>G (p.Leu103Val)	TERT (L103V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238591	NM_198253.3(TERT):c.2996C>A (p.Thr999Asn)	TERT (T936N +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238590	NM_198253.3(TERT):c.2988G>T (p.Thr996=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238589	NM_198253.3(TERT):c.2973G>C (p.Val991=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238588	NM_198253.3(TERT):c.2971G>A (p.Val991Met)	TERT (V928M +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238587	NM_198253.3(TERT):c.2953C>T (p.Leu985=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238586	NM_198253.3(TERT):c.294C>T (p.Ala98=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238585	NM_198253.3(TERT):c.291G>A (p.Leu97=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238584	NM_198253.3(TERT):c.2885G>C (p.Arg962Pro)	TERT (R899P +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238583	NM_198253.3(TERT):c.1152G>T (p.Gln384His)	TERT (Q384H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238582	NM_198253.3(TERT):c.2810C>G (p.Thr937Ser)	TERT (T937S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238581	NM_198253.3(TERT):c.114G>A (p.Leu38=)	LOC110806263, TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238580	NM_198253.3(TERT):c.2766G>T (p.Met922Ile)	TERT (M922I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238579	NM_198253.3(TERT):c.2762A>G (p.Gln921Arg)	TERT (Q921R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238578	NM_198253.3(TERT):c.1147C>T (p.Pro383Ser)	TERT (P383S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238577	NM_198253.3(TERT):c.2733C>A (p.Asp911Glu)	TERT (D911E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238576	NM_198253.3(TERT):c.270G>C (p.Glu90Asp)	TERT (E90D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 3238575	NM_198253.3(TERT):c.2700G>A (p.Leu900=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238574	NM_198253.3(TERT):c.2687G>A (p.Cys896Tyr)	TERT (C896Y)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238573	NM_198253.3(TERT):c.2679G>A (p.Glu893=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238572	NM_198253.3(TERT):c.2665C>G (p.Arg889Gly)	TERT (R889G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238571	NM_198253.3(TERT):c.2664C>G (p.Val888=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238570	NM_198253.3(TERT):c.2653A>G (p.Arg885Gly)	TERT (R885G +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238569	NM_198253.3(TERT):c.1142G>T (p.Arg381Leu)	TERT (R381L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238568	NM_198253.3(TERT):c.2634C>T (p.Thr878=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238567	NM_198253.3(TERT):c.2622A>C (p.Thr874=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238566	NM_198253.3(TERT):c.2611T>C (p.Leu871=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238565	NM_198253.3(TERT):c.2575C>A (p.Arg859=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238564	NM_198253.3(TERT):c.248G>T (p.Arg83Leu)	LOC110806263, TERT (R83L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238563	NM_198253.3(TERT):c.2482T>A (p.Cys828Ser)	TERT (C828S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238562	NM_198253.3(TERT):c.2460C>G (p.Ile820Met)	TERT (I820M)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3238561	NM_198253.3(TERT):c.1134G>A (p.Arg378=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238560	NM_198253.3(TERT):c.2435T>C (p.Phe812Ser)	TERT (F812S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3238559	NM_198253.3(TERT):c.2427C>T (p.Phe809=)	TERT	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 3238558	NM_198253.3(TERT):c.2415C>A (p.Leu805=)	TERT	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 3238557	NM_198253.3(TERT):c.23G>T (p.Arg8Leu)	LOC110806263, TERT (R8L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238556	NM_198253.3(TERT):c.2384G>A (p.Ser795Asn)	TERT (S795N)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3238555	NM_198253.3(TERT):c.2373C>T (p.Val791=)	TERT	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 3238554	NM_198253.3(TERT):c.2369T>A (p.Val790Asp)	TERT (V790D)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3238553	NM_198253.3(TERT):c.2332G>T (p.Ala778Ser)	TERT (A778S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3238552	NM_198253.3(TERT):c.2320C>G (p.Arg774Gly)	TERT (R774G)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3238551	NM_198253.3(TERT):c.2303A>G (p.Asp768Gly)	TERT (D768G)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3238550	NM_198253.3(TERT):c.2301A>T (p.Thr767=)	TERT	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 3238549	NM_198253.3(TERT):c.2287G>T (p.Val763Phe)	TERT (V763F)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3238548	NM_198253.3(TERT):c.1119A>G (p.Pro373=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238547	NM_198253.3(TERT):c.2254C>G (p.His752Asp)	TERT (H752D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238546	NM_198253.3(TERT):c.1116G>A (p.Met372Ile)	TERT (M372I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238545	NM_198253.3(TERT):c.2232T>C (p.Tyr744=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238544	NM_198253.3(TERT):c.1109C>A (p.Pro370His)	TERT (P370H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238543	NM_198253.3(TERT):c.2144G>C (p.Gly715Ala)	TERT (G715A)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238542	NM_198253.3(TERT):c.2139G>T (p.Val713=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238541	NM_198253.3(TERT):c.1104C>T (p.Ser368=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238540	NM_198253.3(TERT):c.2066C>A (p.Ala689Asp)	TERT (A689D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238539	NM_198253.3(TERT):c.1089C>T (p.Thr363=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238538	NM_198253.3(TERT):c.2017C>T (p.Pro673Ser)	TERT (P673S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238537	NM_198253.3(TERT):c.2015G>T (p.Arg672Leu)	TERT (R672L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238536	NM_198253.3(TERT):c.2007G>T (p.Arg669=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238535	NM_198253.3(TERT):c.2006G>T (p.Arg669Leu)	TERT (R669L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238534	NM_198253.3(TERT):c.2000A>G (p.Tyr667Cys)	TERT (Y667C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238533	NM_198253.3(TERT):c.1960C>G (p.Leu654Val)	TERT (L654V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238532	NM_198253.3(TERT):c.1955A>G (p.Glu652Gly)	TERT (E652G)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238531	NM_198253.3(TERT):c.1952C>T (p.Ala651Val)	TERT (A651V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238530	NM_198253.3(TERT):c.1942G>C (p.Glu648Gln)	TERT (E648Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238529	NM_198253.3(TERT):c.1930A>G (p.Thr644Ala)	TERT (T644A)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238528	NM_198253.3(TERT):c.1912T>C (p.Tyr638His)	TERT (Y638H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238527	NM_198253.3(TERT):c.1903A>C (p.Asn635His)	TERT (N635H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238526	NM_198253.3(TERT):c.1863C>G (p.Leu621=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3238525	NM_198253.3(TERT):c.185C>G (p.Ala62Gly)	LOC110806263, TERT (A62G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238524	NM_198253.3(TERT):c.1736G>A (p.Ser579Asn)	TERT (S579N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238523	NM_198253.3(TERT):c.167T>A (p.Val56Glu)	LOC110806263, TERT (V56E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3238522	NM_198253.3(TERT):c.1647G>C (p.Met549Ile)	TERT (M549I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance

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