ClinVar for MedGen (Select 155487) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239663	NM_001277058.2(ERCC6):c.3091C>T (p.Arg1031Ter)	ERCC6, PGBD3 (R1031* +1 more)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 3024167	NM_000124.4(ERCC6):c.2321_2322del (p.Lys774fs)	ERCC6 (K774fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GPathogenic
Select item 2663790	NC_000010.10:g.(?_49383876)_(52383915_?)del	C10orf71, CHAT +22 more	Deletion	Cockayne syndrome type 2	GPathogenic
Select item 2430381	NM_000124.4(ERCC6):c.22del (p.His8fs)	ERCC6 (H8fs)	Deletion (frameshift variant)	DE SANCTIS-CACCHIONE SYNDROME +2 more	GPathogenic
Select item 2155677	NM_000124.4(ERCC6):c.1685+5G>A	ERCC6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2008277	NM_000124.4(ERCC6):c.439dup (p.Leu147fs)	ERCC6 (L147fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1973627	NM_000124.4(ERCC6):c.2054T>C (p.Leu685Pro)	ERCC6 (L685P)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1800797	NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter)	ERCC6 (R1087*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1726993	NM_000124.4(ERCC6):c.2636del (p.Lys879fs)	ERCC6 (K879fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726883	NM_000124.4(ERCC6):c.2881_2882insTCTTCGT (p.Arg961fs)	ERCC6, LOC126860933 (R961fs)	Insertion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726861	NM_000124.4(ERCC6):c.2307_2308insATTGT (p.Asp770fs)	ERCC6 (D770fs)	Insertion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726814	NM_000124.4(ERCC6):c.2134_2135del (p.Thr712fs)	ERCC6 (T712fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726747	NM_000124.4(ERCC6):c.3682A>T (p.Lys1228Ter)	ERCC6 (K1228*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726718	NM_000124.4(ERCC6):c.1467_1468del (p.Ser489fs)	ERCC6 (S489fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726639	NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)	ERCC6, LOC126860933 (Y932*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726631	NM_000124.4(ERCC6):c.2035C>T (p.Gln679Ter)	ERCC6 (Q679*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726531	NM_000124.4(ERCC6):c.1174G>T (p.Glu392Ter)	ERCC6, PGBD3 (E392*)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726473	NM_000124.4(ERCC6):c.1307_1316del (p.Ala436fs)	ERCC6, PGBD3 (A436fs)	Deletion (frameshift variant +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726451	NM_000124.4(ERCC6):c.3677_3678del (p.Val1226fs)	ERCC6 (V1226fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726378	NM_000124.4(ERCC6):c.1914T>A (p.Tyr638Ter)	ERCC6 (Y638*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726354	NM_000124.4(ERCC6):c.1905del (p.Ser636fs)	ERCC6 (S636fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726183	NM_000124.4(ERCC6):c.3623_3624insTG (p.Ser1209fs)	ERCC6 (S1209fs)	Insertion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1726063	NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs)	ERCC6, PGBD3 (K405fs)	Insertion (frameshift variant +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725967	NM_000124.4(ERCC6):c.1040del (p.Gly347fs)	ERCC6 (G347fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1725887	NM_000124.4(ERCC6):c.3002_3003delinsA (p.Leu1001fs)	ERCC6 (L1001fs)	Indel (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725886	NM_000124.4(ERCC6):c.1815del (p.His605fs)	ERCC6 (H605fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725809	NM_000124.4(ERCC6):c.3598_3599del (p.Leu1200fs)	ERCC6 (L1200fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725790	NM_000124.4(ERCC6):c.454A>T (p.Lys152Ter)	ERCC6 (K152*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725710	NM_000124.4(ERCC6):c.1213A>T (p.Lys405Ter)	ERCC6, PGBD3 (K405*)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725297	NM_000124.4(ERCC6):c.2106del (p.Phe703fs)	ERCC6 (F703fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725265	NM_000124.4(ERCC6):c.3234_3235del (p.Glu1079fs)	ERCC6 (E1079fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725200	NM_000124.4(ERCC6):c.1154delinsTACACTTTT (p.Asp385fs)	ERCC6, PGBD3 (D385fs)	Indel (frameshift variant +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725196	NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter)	ERCC6 (E155*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1725176	NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter)	ERCC6 (K259*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724969	NM_000124.4(ERCC6):c.1342A>T (p.Lys448Ter)	ERCC6, PGBD3 (K448*)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724951	NM_000124.4(ERCC6):c.3768_3769delinsT (p.Lys1258fs)	ERCC6 (K1258fs)	Indel (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724937	NM_000124.4(ERCC6):c.3571_3572insATCGT (p.Ala1191fs)	ERCC6 (A1191fs)	Insertion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724927	NM_000124.4(ERCC6):c.2166del (p.Gln723fs)	ERCC6 (Q723fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724810	NM_000124.4(ERCC6):c.1759_1760del (p.Thr587fs)	ERCC6 (T587fs)	Microsatellite (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724789	NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs)	ERCC6 (W1169fs)	Duplication (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724778	NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter)	ERCC6 (E207*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724728	NM_000124.4(ERCC6):c.1212_1213del (p.Lys405fs)	ERCC6, PGBD3 (K405fs)	Deletion (frameshift variant +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724485	NM_000124.4(ERCC6):c.3489_3490del (p.Gln1164fs)	ERCC6 (Q1164fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724315	NM_000124.4(ERCC6):c.1926T>A (p.Tyr642Ter)	ERCC6 (Y642*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724226	NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter)	ERCC6 (C573*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724138	NM_000124.4(ERCC6):c.2548del (p.Ile850fs)	ERCC6 (I850fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724080	NM_000124.4(ERCC6):c.1274_1275insGCTTCAG (p.Asp425fs)	ERCC6, PGBD3 (D425fs)	Insertion (frameshift variant +1 more)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724048	NM_000124.4(ERCC6):c.1867_1869delinsT (p.Thr623fs)	ERCC6 (T623fs)	Indel (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1724020	NM_000124.4(ERCC6):c.3322G>T (p.Gly1108Ter)	ERCC6 (G1108*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1705731	NM_000124.4(ERCC6):c.2547_2550del (p.Lys849fs)	ERCC6 (K849fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1705392	NM_000124.4(ERCC6):c.542dup (p.Glu182fs)	ERCC6 (E182fs)	Duplication (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1679951	NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter)	ERCC6 (E284*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1521434	NM_000124.4(ERCC6):c.2037A>G (p.Gln679=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1516113	NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu)	ERCC6 (F1339L)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1 +8 more	GUncertain significance
Select item 1441057	NM_000124.4(ERCC6):c.1528T>A (p.Tyr510Asn)	ERCC6 (Y510N)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +1 more	GUncertain significance
Select item 1431181	NM_000124.4(ERCC6):c.2705A>G (p.Asn902Ser)	ERCC6 (N902S)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1392680	NM_000124.4(ERCC6):c.2077T>A (p.Phe693Ile)	ERCC6 (F693I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1333599	NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu)	ERCC6 (I738L)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1333221	NM_000124.4(ERCC6):c.2336del (p.Phe779fs)	ERCC6 (F779fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1321658	NM_000124.4(ERCC6):c.721C>T (p.Arg241Cys)	ERCC6 (R241C)	Single nucleotide variant (missense variant)	UV-sensitive syndrome 1 +7 more	GUncertain significance
Select item 1299433	NM_000124.4(ERCC6):c.652G>A (p.Glu218Lys)	ERCC6 (E218K)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2	GUncertain significance
Select item 1226200	NM_000124.4(ERCC6):c.2382+33T>C	ERCC6	Single nucleotide variant (intron variant)	Cockayne syndrome type 2 +4 more	GBenign
Select item 1214221	NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met)	ERCC6 (K607M)	Single nucleotide variant (missense variant)	DE SANCTIS-CACCHIONE SYNDROME +7 more	GUncertain significance
Select item 1131890	NM_000124.4(ERCC6):c.804A>G (p.Ala268=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided +7 more	GLikely benign
Select item 1034077	NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)	ERCC6 (T699fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 1 +7 more	GPathogenic
Select item 998032	NM_000124.4(ERCC6):c.[1727C>G;1834C>T]	ERCC6 (R612* +1 more)	Single nucleotide variant (nonsense +1 more)	Cerebrooculofacioskeletal syndrome 1	GPathogenic
Select item 984252	NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter)	ERCC6 (E1253*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 984141	NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter)	ERCC6 (Q192*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 984140	NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter)	ERCC6 (K506*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 984139	NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter)	ERCC6 (R593*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 984138	NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter)	ERCC6 (K606*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 984137	NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter)	ERCC6 (L734*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983771	NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter)	ERCC6 (Q794*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983770	NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter)	ERCC6 (W835*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983769	NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter)	ERCC6 (L848*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983768	NM_000124.4(ERCC6):c.2566C>T (p.Gln856Ter)	ERCC6 (Q856*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983767	NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter)	ERCC6, LOC126860933 (W936*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983766	NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter)	ERCC6, LOC126860933 (W949*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983765	NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter)	ERCC6 (E1003*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983764	NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter)	ERCC6 (G1024*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983691	NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter)	ERCC6 (K1033*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983690	NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter)	ERCC6 (E1119*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983689	NM_000124.4(ERCC6):c.3448A>T (p.Lys1150Ter)	ERCC6 (K1150*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983688	NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter)	ERCC6 (Y1155*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983687	NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter)	ERCC6 (K1182*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983686	NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter)	ERCC6 (E1192*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983685	NM_000124.4(ERCC6):c.3637A>T (p.Arg1213Ter)	ERCC6 (R1213*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 983684	NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter)	ERCC6 (G1219*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2	GLikely pathogenic
Select item 974894	NM_000124.4(ERCC6):c.543+1G>T	ERCC6	Single nucleotide variant (splice donor variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 880492	NM_000124.4(ERCC6):c.1686-12G>A	ERCC6	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 880168	NM_000124.4(ERCC6):c.3901C>T (p.Arg1301Cys)	ERCC6 (R1301C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 880064	NM_000124.4(ERCC6):c.*246T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 879860	NM_000124.4(ERCC6):c.*2540G>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 879859	NM_000124.4(ERCC6):c.*2602A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +3 more	GUncertain significance
Select item 879814	NM_000124.4(ERCC6):c.*3356C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 879813	NM_000124.4(ERCC6):c.*3366G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 879772	NM_000124.4(ERCC6):c.958G>C (p.Val320Leu)	ERCC6 (V320L)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 879771	NM_000124.4(ERCC6):c.*4208A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GLikely benign
Select item 879712	NM_000124.4(ERCC6):c.1237C>T (p.Arg413Trp)	ERCC6, PGBD3 (R413W)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 2 +4 more	GUncertain significance
Select item 879644	NM_000124.4(ERCC6):c.*813C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GConflicting classifications of pathogenicity

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