ClinVar for MedGen (Select 78580) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3227123	NM_001143992.2(WRAP53):c.854T>C (p.Phe285Ser)	WRAP53 (F285S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3227122	NM_001143992.2(WRAP53):c.829C>G (p.Leu277Val)	WRAP53 (L277V)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3227121	NM_001143992.2(WRAP53):c.828G>A (p.Glu276=)	WRAP53	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 3201182	NM_018648.4(NOP10):c.64C>T (p.Pro22Ser)	NOP10 (P22S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3199808	NM_017838.4(NHP2):c.311C>T (p.Pro104Leu)	NHP2 (P104L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3190768	NM_001143992.2(WRAP53):c.1036G>A (p.Gly346Ser)	WRAP53 (G346S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3082634	NM_001363.5(DKC1):c.257A>G (p.Tyr86Cys)	DKC1 (Y86C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3022119	NM_017838.4(NHP2):c.267G>A (p.Glu89=)	NHP2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3020932	NM_001363.5(DKC1):c.772-10del	DKC1	Deletion (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3020670	NM_025099.6(CTC1):c.1439+8G>A	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3020157	NM_001363.5(DKC1):c.16+8C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3019804	NM_025099.6(CTC1):c.3012-12G>C	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3019214	NM_001363.5(DKC1):c.816G>C (p.Leu272=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3018221	NM_001363.5(DKC1):c.1477-10T>C	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3017896	NM_001363.5(DKC1):c.1036+19T>G	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3016872	NM_001363.5(DKC1):c.548G>A (p.Arg183Gln)	DKC1 (R183Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3016503	NM_001099274.3(TINF2):c.507+12G>A	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 3015705	NM_001099274.3(TINF2):c.1166T>G (p.Ile389Arg)	TINF2 (I389R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3015074	NM_025099.6(CTC1):c.315C>T (p.Pro105=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3013666	NM_025099.6(CTC1):c.1077+1G>A	CTC1	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita	GLikely pathogenic
Select item 3013572	NM_001099274.3(TINF2):c.298-15C>T	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3009252	NM_001363.5(DKC1):c.12G>A (p.Ala4=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3007515	NM_025099.6(CTC1):c.1938G>A (p.Arg646=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3007484	NM_001363.5(DKC1):c.16+10G>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3007473	NM_001099274.3(TINF2):c.399+9G>C	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3006842	NM_001099274.3(TINF2):c.954G>C (p.Met318Ile)	TINF2 (M283I +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3006530	NM_025099.6(CTC1):c.3011+19A>G	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3005196	NM_001363.5(DKC1):c.448+11G>A	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3004971	NM_001363.5(DKC1):c.684A>G (p.Thr228=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3004743	NM_025099.6(CTC1):c.1815C>T (p.Ala605=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3002806	NM_001363.5(DKC1):c.621C>T (p.Tyr207=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3001449	NM_001099274.3(TINF2):c.73G>A (p.Gly25Arg)	LOC130055403, TINF2 (G25R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 3001207	NM_001363.5(DKC1):c.795T>C (p.Asp265=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2999710	NM_001363.5(DKC1):c.984G>A (p.Glu328=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2999216	NM_001099274.3(TINF2):c.487C>T (p.Pro163Ser)	TINF2 (P163S +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2999023	NM_001363.5(DKC1):c.1171C>T (p.Leu391=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2999020	NM_025099.6(CTC1):c.2202G>C (p.Leu734Phe)	CTC1 (L734F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2997409	NM_001363.5(DKC1):c.1036+13G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2995549	NM_025099.6(CTC1):c.147C>G (p.Val49=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2995081	NM_025099.6(CTC1):c.3515-8C>T	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2993632	NM_001363.5(DKC1):c.1398C>G (p.Ile466Met)	DKC1 (I461M +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 2993366	NM_025099.6(CTC1):c.3266G>A (p.Arg1089Lys)	CTC1 (R1089K)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 2993267	NM_025099.6(CTC1):c.2055G>C (p.Gln685His)	CTC1 (Q685H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2992656	NM_001363.5(DKC1):c.778A>G (p.Met260Val)	DKC1 (M260V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2992174	NM_025099.6(CTC1):c.1785_1786del (p.Cys596fs)	CTC1 (C596fs)	Microsatellite (frameshift variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 2991533	NM_025099.6(CTC1):c.3012-18C>T	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2990922	NM_025099.6(CTC1):c.439A>G (p.Ile147Val)	CTC1 (I147V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2990485	NM_001363.5(DKC1):c.843C>T (p.Tyr281=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2988286	NM_001363.5(DKC1):c.264-10T>C	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2986135	NM_017838.4(NHP2):c.15G>A (p.Lys5=)	NHP2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2984701	NM_001363.5(DKC1):c.1259+8C>T	DKC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2984120	NM_025099.6(CTC1):c.802C>T (p.Gln268Ter)	CTC1 (Q268*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita	GPathogenic
Select item 2982058	NM_001099274.3(TINF2):c.93T>G (p.Phe31Leu)	LOC130055403, TINF2 (F31L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2979914	NM_025099.6(CTC1):c.3441T>C (p.Thr1147=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2979765	NM_001099274.3(TINF2):c.389C>G (p.Ser130Trp)	TINF2 (S130W +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2979683	NM_025099.6(CTC1):c.2610T>C (p.Asp870=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2979519	NM_001099274.3(TINF2):c.926A>T (p.His309Leu)	TINF2 (H309L +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2978099	NM_001363.5(DKC1):c.189T>C (p.Asn63=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2976632	NM_001363.5(DKC1):c.16+11C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2975844	NM_001099274.3(TINF2):c.1062-2A>G	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2974211	NM_001099274.3(TINF2):c.564C>G (p.Ala188=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2974148	NM_025099.6(CTC1):c.3586T>C (p.Leu1196=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2974055	NM_017838.4(NHP2):c.365G>A (p.Arg122His)	NHP2, RMND5B (A165T +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2973758	NM_001099274.3(TINF2):c.801A>C (p.Arg267Ser)	TINF2 (R232S +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2972681	NM_001363.5(DKC1):c.219A>G (p.Ala73=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2971421	NM_001363.5(DKC1):c.475C>T (p.Leu159=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2971275	NM_025099.6(CTC1):c.1353C>G (p.Ser451=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2971255	NM_025099.6(CTC1):c.33+9T>C	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2969472	NM_025099.6(CTC1):c.2888C>G (p.Pro963Arg)	CTC1 (P963R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2969339	NM_001099274.3(TINF2):c.508-10C>T	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2968587	NM_001363.5(DKC1):c.709T>C (p.Leu237=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2968521	NM_001099274.3(TINF2):c.605-20G>A	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2968106	NM_001099274.3(TINF2):c.1292C>A (p.Pro431His)	TINF2 (P431H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2965460	NM_025099.6(CTC1):c.603C>T (p.Ile201=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2962589	NM_001363.5(DKC1):c.498G>A (p.Gly166=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2961811	NM_025099.6(CTC1):c.2242G>T (p.Val748Phe)	CTC1 (V748F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2961301	NM_001099274.3(TINF2):c.459G>A (p.Glu153=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2959169	NM_025099.6(CTC1):c.3377C>T (p.Ala1126Val)	CTC1 (A1126V)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 2958070	NM_001099274.3(TINF2):c.948A>G (p.Leu316=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2920170	NM_017838.4(NHP2):c.364C>A (p.Arg122Ser)	NHP2, RMND5B (S86R +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2919943	NM_001099274.3(TINF2):c.529A>T (p.Met177Leu)	TINF2 (M142L +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2919851	NM_001099274.3(TINF2):c.1062-19_1062-18del	TINF2	Deletion (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2919839	NM_025099.6(CTC1):c.128T>C (p.Ile43Thr)	CTC1 (I43T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2919461	NM_001363.5(DKC1):c.1477-28_1477-18del	DKC1	Deletion (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2918983	NM_001363.5(DKC1):c.1156-17C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2918959	NM_017838.4(NHP2):c.161-7G>A	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2918752	NM_017838.4(NHP2):c.160G>A (p.Ala54Thr)	NHP2 (A54T)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2918595	NM_001363.5(DKC1):c.1233C>T (p.Thr411=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2918404	NM_001363.5(DKC1):c.579G>A (p.Gln193=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2918329	NM_025099.6(CTC1):c.1198T>C (p.Cys400Arg)	CTC1 (C400R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2918088	NM_025099.6(CTC1):c.623G>A (p.Ser208Asn)	CTC1 (S208N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2917942	NM_001099274.3(TINF2):c.1010dup (p.Arg338fs)	TINF2 (R338fs +1 more)	Duplication (frameshift variant)	Dyskeratosis congenita	GUncertain significance
Select item 2917068	NM_025099.6(CTC1):c.1819-4G>T	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2915492	NM_025099.6(CTC1):c.273A>G (p.Ala91=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2915124	NM_001363.5(DKC1):c.1339-20A>C	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2915095	NM_017838.4(NHP2):c.160+5G>C	NHP2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 2914707	NM_025099.6(CTC1):c.2538T>C (p.Ala846=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2914644	NM_001099274.3(TINF2):c.307G>C (p.Asp103His)	TINF2 (D68H +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2914164	NM_025099.6(CTC1):c.146_149del (p.Val49fs)	CTC1 (V49fs)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 2914027	NM_001099274.3(TINF2):c.968C>T (p.Ala323Val)	TINF2 (A323V +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance

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