ClinVar for MedGen (Select 462413) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Cerebrooculofacioskeletal syndrome 1 +7 more	GUncertain significance
Select item 1333599	NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu)	ERCC6 (I738L)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1 +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)	Cerebrooculofacioskeletal syndrome 1 +7 more	GUncertain significance
Select item 1214221	NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met)	ERCC6 (K607M)	Single nucleotide variant (missense variant)	not provided +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)	UV-sensitive 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 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)	not provided +3 more	GUncertain significance
Select item 879814	NM_000124.4(ERCC6):c.*3356C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 879813	NM_000124.4(ERCC6):c.*3366G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 879772	NM_000124.4(ERCC6):c.958G>C (p.Val320Leu)	ERCC6, ERCC6-PGBD3 (V320L)	Single nucleotide variant (missense variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 879771	NM_000124.4(ERCC6):c.*4208A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +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)	not specified +4 more	GUncertain significance
Select item 879644	NM_000124.4(ERCC6):c.*813C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +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)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 879449	NM_000124.4(ERCC6):c.423-9A>C	ERCC6	Single nucleotide variant (intron variant)	not provided +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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 879446	NM_000124.4(ERCC6):c.*3395A>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GBenign
Select item 879445	NM_000124.4(ERCC6):c.*3684A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +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)	Age related macular degeneration 5 +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 878900	NM_000124.4(ERCC6):c.4295G>A (p.Arg1432Lys)	ERCC6 (R1432K)	Single nucleotide variant (missense variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 878899	NM_000124.4(ERCC6):c.4306G>A (p.Ala1436Thr)	ERCC6 (A1436T)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +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)	Cockayne syndrome type 2 +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)	Premature ovarian failure 11 +6 more	GUncertain significance
Select item 878359	NM_000124.4(ERCC6):c.4041A>G (p.Thr1347=)	ERCC6	Single nucleotide variant (synonymous variant)	Age related macular degeneration 5 +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)	Age related macular degeneration 5 +4 more	GConflicting classifications of pathogenicity
Select item 878193	NM_000124.4(ERCC6):c.*922C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +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)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 878035	NM_000124.4(ERCC6):c.*2729G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 878034	NM_000124.4(ERCC6):c.*2766T>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 878033	NM_000124.4(ERCC6):c.*2946C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GBenign
Select item 877984	NM_000124.4(ERCC6):c.*3720T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 877983	NM_000124.4(ERCC6):c.*3823T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GBenign
Select item 877982	NM_000124.4(ERCC6):c.*3921A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +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)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 877918	NM_000124.4(ERCC6):c.*2460T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 877872	NM_000124.4(ERCC6):c.*2973C>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 877871	NM_000124.4(ERCC6):c.*3217T>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 877870	NM_000124.4(ERCC6):c.*3280A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +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)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 877818	NM_000124.4(ERCC6):c.*4019A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GConflicting classifications of pathogenicity
Select item 877817	NM_000124.4(ERCC6):c.*4090G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GConflicting classifications of pathogenicity
Select item 877687	NM_000124.4(ERCC6):c.1993-12T>C	ERCC6	Single nucleotide variant (intron variant)	not provided +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)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 877095	NM_000124.4(ERCC6):c.*1805G>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 806468	NM_001277058.2(ERCC6):c.2552T>C (p.Val851Ala)	ERCC6, PGBD3 (V851A +1 more)	Single nucleotide variant (missense variant +1 more)	Cerebrooculofacioskeletal syndrome 1 +8 more	GUncertain significance
Select item 727959	NM_000124.4(ERCC6):c.2925-8T>A	ERCC6	Single nucleotide variant (intron variant)	Cockayne syndrome type 2 +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)	not provided +4 more	GUncertain significance
Select item 551705	NM_000124.4(ERCC6):c.-14-2A>G	ERCC6, ERCC6-PGBD3	Single nucleotide variant (intron variant +1 more)	not specified +7 more	GUncertain significance
Select item 551374	NM_000124.4(ERCC6):c.2287-2A>G	ERCC6	Single nucleotide variant (splice acceptor variant)	DE SANCTIS-CACCHIONE SYNDROME +8 more	GPathogenic/Likely pathogenic
Select item 452965	NM_000124.4(ERCC6):c.1820A>G (p.Lys607Arg)	ERCC6 (K607R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 445943	NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu)	ERCC6, LOC126860933 (V959L)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +3 more	GBenign/Likely benign
Select item 430298	NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)	ERCC6 (R612*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +8 more	GPathogenic/Likely pathogenic
Select item 300103	NM_000124.4(ERCC6):c.-107A>G	ERCC6, ERCC6-PGBD3	Single nucleotide variant (5 prime UTR variant +1 more)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300102	NM_000124.4(ERCC6):c.-100A>G	ERCC6, LOC130003806	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 300100	NM_000124.4(ERCC6):c.-83G>A	ERCC6, LOC130003806	Single nucleotide variant (5 prime UTR variant +1 more)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300098	NM_000124.4(ERCC6):c.-52G>A	ERCC6, LOC130003806	Single nucleotide variant (5 prime UTR variant +1 more)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300097	NM_000124.4(ERCC6):c.-22G>A	ERCC6, LOC130003806	Single nucleotide variant (5 prime UTR variant +1 more)	Age related macular degeneration 5 +3 more	GConflicting classifications of pathogenicity
Select item 300095	NM_000124.4(ERCC6):c.379G>A (p.Val127Ile)	ERCC6 (V127I)	Single nucleotide variant (missense variant)	Age related macular degeneration 5 +3 more	GLikely benign
Select item 300094	NM_000124.4(ERCC6):c.384C>T (p.Asp128=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 300093	NM_000124.4(ERCC6):c.595C>G (p.Leu199Val)	ERCC6, ERCC6-PGBD3 (L199V)	Single nucleotide variant (missense variant)	Age related macular degeneration 5 +3 more	GUncertain significance
Select item 300092	NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn)	ERCC6 (K286N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 300091	NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser)	ERCC6 (P301S)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +4 more	GConflicting classifications of pathogenicity
Select item 300090	NM_000124.4(ERCC6):c.1062T>C (p.Pro354=)	ERCC6	Single nucleotide variant (synonymous variant)	Age related macular degeneration 5 +4 more	GConflicting classifications of pathogenicity
Select item 300089	NM_000124.4(ERCC6):c.1146G>A (p.Glu382=)	ERCC6	Single nucleotide variant (synonymous variant)	Age related macular degeneration 5 +3 more	GBenign/Likely benign
Select item 300088	NM_000124.4(ERCC6):c.1158C>A (p.Asp386Glu)	ERCC6, PGBD3 (D386E)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 300087	NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)	ERCC6, PGBD3 (D386E)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 5 +5 more	GConflicting classifications of pathogenicity
Select item 300086	NM_000124.4(ERCC6):c.1158C>T (p.Asp386=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	Cockayne syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 300085	NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys)	ERCC6, PGBD3 (E387K)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 300084	NM_000124.4(ERCC6):c.1229G>A (p.Gly410Asp)	ERCC6, PGBD3 (G410D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 300083	NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)	ERCC6, PGBD3 (D425A)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 300082	NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser)	ERCC6, PGBD3 (F427S)	Single nucleotide variant (missense variant +1 more)	Cerebrooculofacioskeletal syndrome 1 +3 more	GUncertain significance
Select item 300080	NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys)	ERCC6 (R479C)	Single nucleotide variant (missense variant)	Age related macular degeneration 5 +3 more	GConflicting classifications of pathogenicity
Select item 300079	NM_000124.4(ERCC6):c.1436G>A (p.Arg479His)	ERCC6 (R479H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 300078	NM_000124.4(ERCC6):c.1482C>T (p.Asp494=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 300077	NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met)	ERCC6 (T587M)	Single nucleotide variant (missense variant)	Age related macular degeneration 5 +3 more	GConflicting classifications of pathogenicity
Select item 300076	NM_000124.4(ERCC6):c.1761G>T (p.Thr587=)	ERCC6	Single nucleotide variant (synonymous variant)	Age related macular degeneration 5 +3 more	GConflicting classifications of pathogenicity
Select item 300075	NM_000124.4(ERCC6):c.1992+7C>T	ERCC6	Single nucleotide variant (intron variant)	Cerebrooculofacioskeletal syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 300074	NM_000124.4(ERCC6):c.2022T>A (p.Ser674=)	ERCC6	Single nucleotide variant (synonymous variant)	Age related macular degeneration 5 +3 more	GConflicting classifications of pathogenicity
Select item 300073	NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile)	ERCC6 (V709I)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +7 more	GConflicting classifications of pathogenicity
Select item 300072	NM_000124.4(ERCC6):c.2287-5C>T	ERCC6	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 300071	NM_000124.4(ERCC6):c.2287-4G>A	ERCC6	Single nucleotide variant (intron variant)	Age related macular degeneration 5 +3 more	GConflicting classifications of pathogenicity

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