ClinVar for MedGen (Select 66320) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577221	NM_000124.4(ERCC6):c.2218_2221del (p.Pro740fs)	ERCC6 (P740fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 1	GPathogenic
Select item 2445951	NM_000124.4(ERCC6):c.1738C>T (p.Gln580Ter)	ERCC6 (Q580*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +1 more	GPathogenic/Likely pathogenic
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 1706464	NM_000124.4(ERCC6):c.2523G>T (p.Met841Ile)	ERCC6 (M841I)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1	GUncertain significance
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 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 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 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 1320117	NM_000124.4(ERCC6):c.1684A>T (p.Arg562Trp)	ERCC6 (R562W)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1	GLikely pathogenic
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 1210336	NM_000124.4(ERCC6):c.3778+1G>A	ERCC6	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 1	GLikely pathogenic
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 1034078	NM_000124.4(ERCC6):c.3762G>T (p.Lys1254Asn)	ERCC6 (K1254N)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1	GUncertain significance
Select item 1034077	NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)	ERCC6 (T699fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 1 +7 more	GPathogenic
Select item 1029496	NM_000124.4(ERCC6):c.289G>A (p.Val97Met)	ERCC6, ERCC6-PGBD3 (V97M)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1	GUncertain significance
Select item 1028080	NM_000124.4(ERCC6):c.1916A>G (p.Asp639Gly)	ERCC6 (D639G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 932087	NM_170753.3(PGBD3):c.292C>T (p.Gln98Ter)	PGBD3, ERCC6 (Q566* +1 more)	Single nucleotide variant (nonsense +1 more)	Cerebrooculofacioskeletal syndrome 1	GUncertain significance
Select item 931973	NM_000124.4(ERCC6):c.2840G>A (p.Arg947Gln)	ERCC6, LOC126860933 (R947Q)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1 +1 more	GUncertain significance
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
Select item 879544	NM_000124.4(ERCC6):c.*2031A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 879497	NM_000124.4(ERCC6):c.*2662T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 879496	NM_000124.4(ERCC6):c.*2680A>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 879449	NM_000124.4(ERCC6):c.423-9A>C	ERCC6	Single nucleotide variant (intron variant)	Cockayne syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 879448	NM_000124.4(ERCC6):c.423-7T>C	ERCC6	Single nucleotide variant (intron variant)	Cockayne syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 879447	NM_000124.4(ERCC6):c.431C>T (p.Thr144Met)	ERCC6 (T144M)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 879446	NM_000124.4(ERCC6):c.*3395A>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GBenign
Select item 879445	NM_000124.4(ERCC6):c.*3684A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 879444	NM_000124.4(ERCC6):c.*3704C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 879261	NM_000124.4(ERCC6):c.2081C>T (p.Pro694Leu)	ERCC6 (P694L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 879154	NM_000124.4(ERCC6):c.2776G>C (p.Ala926Pro)	ERCC6, LOC126860933 (A926P)	Single nucleotide variant (missense variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 878949	NM_000124.4(ERCC6):c.3962C>G (p.Ser1321Cys)	ERCC6 (S1321C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878900	NM_000124.4(ERCC6):c.4295G>A (p.Arg1432Lys)	ERCC6 (R1432K)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 878899	NM_000124.4(ERCC6):c.4306G>A (p.Ala1436Thr)	ERCC6 (A1436T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 878760	NM_000124.4(ERCC6):c.1379A>C (p.Tyr460Ser)	ERCC6, PGBD3 (Y460S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 878660	NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu)	ERCC6 (R735L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 878410	NM_000124.4(ERCC6):c.3764T>C (p.Leu1255Pro)	ERCC6 (L1255P)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 878360	NM_000124.4(ERCC6):c.3983+4A>G	ERCC6	Single nucleotide variant (intron variant)	Cerebrooculofacioskeletal syndrome 1 +6 more	GUncertain significance
Select item 878359	NM_000124.4(ERCC6):c.4041A>G (p.Thr1347=)	ERCC6	Single nucleotide variant (synonymous variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 878358	NM_000124.4(ERCC6):c.4067G>A (p.Gly1356Asp)	ERCC6 (G1356D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 878316	NM_000124.4(ERCC6):c.4430A>G (p.His1477Arg)	ERCC6 (H1477R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 878193	NM_000124.4(ERCC6):c.*922C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 878085	NM_000124.4(ERCC6):c.-65G>A	ERCC6, LOC130003806	Single nucleotide variant (5 prime UTR variant +1 more)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 878035	NM_000124.4(ERCC6):c.*2729G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 878034	NM_000124.4(ERCC6):c.*2766T>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 878033	NM_000124.4(ERCC6):c.*2946C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GBenign
Select item 877984	NM_000124.4(ERCC6):c.*3720T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 877983	NM_000124.4(ERCC6):c.*3823T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GBenign
Select item 877982	NM_000124.4(ERCC6):c.*3921A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely benign
Select item 877919	NM_000124.4(ERCC6):c.-32G>A	ERCC6, LOC130003806	Single nucleotide variant (5 prime UTR variant +1 more)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 877918	NM_000124.4(ERCC6):c.*2460T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 877872	NM_000124.4(ERCC6):c.*2973C>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 877871	NM_000124.4(ERCC6):c.*3217T>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 877870	NM_000124.4(ERCC6):c.*3280A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GConflicting classifications of pathogenicity
Select item 877820	NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys)	ERCC6 (E272K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 877819	NM_000124.4(ERCC6):c.*3925A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 877818	NM_000124.4(ERCC6):c.*4019A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 877817	NM_000124.4(ERCC6):c.*4090G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 877687	NM_000124.4(ERCC6):c.1993-12T>C	ERCC6	Single nucleotide variant (intron variant)	Cerebrooculofacioskeletal syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 877491	NM_000124.4(ERCC6):c.3123A>G (p.Gln1041=)	ERCC6	Single nucleotide variant (synonymous variant)	Cockayne syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 877387	NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly)	ERCC6 (R1298G)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 877330	NM_000124.4(ERCC6):c.4216G>A (p.Glu1406Lys)	ERCC6 (E1406K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 877211	NM_000124.4(ERCC6):c.*589A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 877095	NM_000124.4(ERCC6):c.*1805G>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 830316	NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs)	ERCC6 (R1038fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
Select item 806468	NM_001277058.2(ERCC6):c.2552T>C (p.Val851Ala)	ERCC6, PGBD3 (V851A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GUncertain significance
Select item 727959	NM_000124.4(ERCC6):c.2925-8T>A	ERCC6	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 595151	NM_000124.4(ERCC6):c.1390C>T (p.Arg464Trp)	ERCC6, PGBD3 (R464W)	Single nucleotide variant (missense variant +1 more)	Cerebrooculofacioskeletal syndrome 1 +4 more	GUncertain significance
Select item 587485	NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp)	ERCC6 (Y561D)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +1 more	GUncertain significance
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 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 558533	NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro)	ERCC6	Deletion (inframe_indel)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
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 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 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 557934	NM_000124.4(ERCC6):c.3957del (p.Ile1320fs)	ERCC6 (I1320fs)	Deletion (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 557734	NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs)	ERCC6 (E608fs)	Indel (frameshift variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
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 556870	NM_000124.4(ERCC6):c.207dup (p.Pro70fs)	ERCC6 (P70fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 556810	NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer)	ERCC6	Deletion (nonsense)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic
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 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 556537	NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del)	ERCC6 (R1039del)	Microsatellite (inframe_deletion)	not provided +3 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 556344	NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del)	ERCC6 (E43del)	Microsatellite (inframe_deletion)	not provided +3 more	GUncertain significance
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 555653	NM_000124.4(ERCC6):c.3778+1G>C	ERCC6	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely pathogenic

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