C0220722[trait identifier] AND "Counsyl"[submitter] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 300033	NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del)	ERCC6 (S1480del)	Deletion (inframe_deletion)	Cockayne syndrome +5 more	GUncertain significance
Select item 554231	NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter)	ERCC6 (R1467*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 550686	NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter)	ERCC6 (S1461*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 190173	NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly)	ERCC6 (R1396G)	Single nucleotide variant (missense variant)	not specified +9 more	GUncertain significance
Select item 549960	NM_000124.4(ERCC6):c.4063-1G>C	ERCC6	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 556731	NM_000124.4(ERCC6):c.4062+2T>A	ERCC6	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
Select item 554470	NM_000124.4(ERCC6):c.3984-2A>G	ERCC6	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 1 +3 more	GLikely pathogenic
Select item 557934	NM_000124.4(ERCC6):c.3957del (p.Ile1320fs)	ERCC6 (I1320fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 190171	NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)	ERCC6 (R1318fs)	Deletion (frameshift variant)	Cockayne syndrome type 2 +4 more	GPathogenic/Likely pathogenic
Select item 558533	NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro)	ERCC6	Deletion (inframe_indel)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 551667	NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs)	ERCC6 (Q1291fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 31578	NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)	ERCC6 (R1288*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2 +4 more	GPathogenic
Select item 555653	NM_000124.4(ERCC6):c.3778+1G>C	ERCC6	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
Select item 283555	NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser)	ERCC6 (C1212S)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1 +3 more	GUncertain significance
Select item 554825	NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter)	ERCC6 (K1210*)	Duplication (nonsense)	Cerebrooculofacioskeletal syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 558665	NM_000124.4(ERCC6):c.3614del (p.Lys1205fs)	ERCC6 (K1205fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
Select item 190168	NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)	ERCC6 (K1203fs)	Insertion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 558059	NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs)	ERCC6 (K1198fs)	Microsatellite (frameshift variant)	Cerebrooculofacioskeletal syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 553649	NM_000124.4(ERCC6):c.3573AGA[2] (p.Glu1194del)	ERCC6 (E1194del)	Microsatellite (inframe_deletion)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 190167	NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)	ERCC6 (Y1179fs)	Deletion (frameshift variant)	Cockayne syndrome type 2 +4 more	GPathogenic/Likely pathogenic
Select item 300048	NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=)	ERCC6	Single nucleotide variant (synonymous variant)	Age related macular degeneration 5 +4 more	GConflicting classifications of pathogenicity
Select item 300050	NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 553528	NM_000124.4(ERCC6):c.3435_3437dup (p.Glu1145_Ser1146insArg)	ERCC6	Duplication (inframe_insertion)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 190166	NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs)	ERCC6 (T1138fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 556537	NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del)	ERCC6 (R1039del)	Microsatellite (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 551813	NM_000124.4(ERCC6):c.3071-1G>A	ERCC6	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 300056	NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu)	ERCC6 (Q992E)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 502165	NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)	ERCC6, LOC126860933 (R947*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 190163	NM_000124.4(ERCC6):c.2830-2A>G	ERCC6, LOC126860933	Single nucleotide variant (splice acceptor variant)	not provided +7 more	GPathogenic
Select item 553712	NM_000124.4(ERCC6):c.2829+1G>A	ERCC6, LOC126860933	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
Select item 300061	NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met)	ERCC6 (T899M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 190162	NM_000124.4(ERCC6):c.2599-26A>G	ERCC6	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 553383	NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)	ERCC6 (R857*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2 +3 more	GPathogenic
Select item 557733	NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter)	ERCC6 (Q854*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +2 more	GPathogenic
Select item 210955	NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)	ERCC6 (W851R)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +2 more	GPathogenic/Likely pathogenic
Select item 300064	NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del)	ERCC6 (E829del)	Microsatellite (inframe_deletion)	COFS syndrome +5 more	GUncertain significance
Select item 558051	NM_000124.4(ERCC6):c.2383-1G>A	ERCC6	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
Select item 550657	NM_000124.4(ERCC6):c.2286+1G>A	ERCC6	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1701	NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	ERCC6 (R735*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic
Select item 554803	NM_000124.4(ERCC6):c.2169+1G>A	ERCC6	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 190160	NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)	ERCC6 (Q723*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +10 more	GPathogenic/Likely pathogenic
Select item 190159	NM_000124.4(ERCC6):c.2096dup (p.Leu700fs)	ERCC6 (L700fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 557872	NM_000124.4(ERCC6):c.2073_2074insCCGCTCTTTGACTTC (p.Phe691_Ile692insProLeuPheAspPhe)	ERCC6	Insertion (inframe_insertion)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 552600	NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)	ERCC6 (S687L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1711	NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)	ERCC6 (R683*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +8 more	GPathogenic/Likely pathogenic
Select item 550065	NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp)	ERCC6 (N680D)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1 +3 more	GUncertain significance
Select item 190155	NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)	ERCC6 (R652*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 190154	NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln)	ERCC6 (R612Q)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 430298	NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)	ERCC6 (R612*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 555221	NM_000124.4(ERCC6):c.1821+1G>A	ERCC6	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 557734	NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs)	ERCC6 (E608fs)	Indel (frameshift variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
Select item 555033	NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly)	ERCC6 (D532G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 558660	NM_000124.4(ERCC6):c.1527-2A>G	ERCC6	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
Select item 300078	NM_000124.4(ERCC6):c.1482C>T (p.Asp494=)	ERCC6	Single nucleotide variant (synonymous variant)	Cockayne syndrome type 2 +4 more	GConflicting classifications of pathogenicity
Select item 554946	NM_000124.4(ERCC6):c.1398-2A>G	ERCC6	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 550708	NM_000124.4(ERCC6):c.1397+1G>C	ERCC6, PGBD3	Single nucleotide variant (splice donor variant)	not provided +4 more	GLikely pathogenic
Select item 1703	NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	ERCC6, PGBD3 (R453*)	Single nucleotide variant (nonsense +1 more)	not provided +7 more	GPathogenic
Select item 556775	NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del)	ERCC6, PGBD3 (E441del)	Deletion (inframe_indel +2 more)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 556515	NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del)	ERCC6, PGBD3 (G440del)	Deletion (inframe_indel +2 more)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 77973	NM_000124.4(ERCC6):c.1281C>T (p.Phe427=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely benign
Select item 300082	NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser)	ERCC6, PGBD3 (F427S)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 5 +3 more	GUncertain significance
Select item 558026	NM_000124.4(ERCC6):c.1211_1212insTCA (p.Leu404_Lys405insGln)	ERCC6, PGBD3	Insertion (inframe_insertion +1 more)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 500495	NM_000124.4(ERCC6):c.1137GGAGGAAGA[1] (p.Glu382_Glu384del)	ERCC6, PGBD3	Microsatellite (inframe_deletion)	Cerebrooculofacioskeletal syndrome 1 +3 more	GUncertain significance
Select item 553324	NM_000124.4(ERCC6):c.1134GGA[6] (p.Glu382_Glu384dup)	ERCC6	Microsatellite (inframe_insertion)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 555146	NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter)	ERCC6 (E379*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 552306	NM_000124.4(ERCC6):c.1062T>A (p.Pro354=)	ERCC6	Single nucleotide variant (synonymous variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely benign
Select item 300090	NM_000124.4(ERCC6):c.1062T>C (p.Pro354=)	ERCC6	Single nucleotide variant (synonymous variant)	Cockayne syndrome type 2 +4 more	GConflicting classifications of pathogenicity
Select item 550722	NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)	ERCC6 (K337*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2 +3 more	GPathogenic/Likely pathogenic
Select item 550158	NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del)	ERCC6	Deletion (inframe_deletion)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 550175	NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs)	ERCC6 (R261fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 225905	NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)	ERCC6 (E215*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 300093	NM_000124.4(ERCC6):c.595C>G (p.Leu199Val)	ERCC6 (L199V)	Single nucleotide variant (missense variant)	DE SANCTIS-CACCHIONE SYNDROME +3 more	GUncertain significance
Select item 553815	NM_000124.4(ERCC6):c.544-2A>G	ERCC6	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
Select item 551532	NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)	ERCC6 (R176*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2 +4 more	GPathogenic/Likely pathogenic
Select item 212733	NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)	ERCC6 (Q156*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic
Select item 556810	NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer)	ERCC6	Deletion (nonsense)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
Select item 556340	NM_000124.4(ERCC6):c.422+1G>C	ERCC6	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 550687	NM_000124.4(ERCC6):c.422+1G>A	ERCC6	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 551983	NM_000124.4(ERCC6):c.259_260del (p.Ala87fs)	ERCC6 (A87fs)	Microsatellite (frameshift variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
Select item 553889	NM_000124.4(ERCC6):c.214del (p.Leu72fs)	ERCC6 (L72fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
Select item 556870	NM_000124.4(ERCC6):c.207dup (p.Pro70fs)	ERCC6 (P70fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 550120	NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr)	ERCC6 (A62T)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1 +3 more	GUncertain significance
Select item 556344	NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del)	ERCC6 (E43del)	Microsatellite (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 551535	NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)	ERCC6 (Q21*)	Single nucleotide variant (nonsense)	ERCC6-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 551705	NM_000124.4(ERCC6):c.-14-2A>G	ERCC6	Single nucleotide variant (intron variant +1 more)	Cerebrooculofacioskeletal syndrome 1 +7 more	GUncertain significance

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Items: 85