ClinVar for Gene (Select 2074) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369310	NM_000124.4(ERCC6):c.3944C>G (p.Thr1315Ser)	ERCC6 (T1315S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369309	NM_001277058.2(ERCC6):c.2254C>G (p.Gln752Glu)	ERCC6, PGBD3 (Q284E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343809	NM_000124.4(ERCC6):c.1685+5G>C	ERCC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3340052	NM_000124.4(ERCC6):c.2808G>T (p.Trp936Cys)	ERCC6, LOC126860933 (W936C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336990	NM_000124.4(ERCC6):c.2911_2915delinsTGGTGTGCA (p.Lys971fs)	ERCC6, LOC126860933 (K971fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 3305967	NM_170753.3(PGBD3):c.1135C>T (p.His379Tyr)	ERCC6, PGBD3 (H379Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305966	NM_170753.3(PGBD3):c.1420C>T (p.Arg474Trp)	ERCC6, PGBD3 (R474W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305965	NM_170753.3(PGBD3):c.50A>T (p.Asp17Val)	ERCC6, PGBD3 (D17V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305964	NM_170753.3(PGBD3):c.352G>A (p.Asp118Asn)	ERCC6, PGBD3 (D118N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276305	NM_000124.4(ERCC6):c.3818A>G (p.Asp1273Gly)	ERCC6 (D1273G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276304	NM_000124.4(ERCC6):c.2287G>A (p.Val763Ile)	ERCC6 (V763I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276303	NM_000124.4(ERCC6):c.2074A>G (p.Ile692Val)	ERCC6 (I692V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3276302	NM_000124.4(ERCC6):c.1594G>A (p.Asp532Asn)	ERCC6 (D532N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276299	NM_000124.4(ERCC6):c.2962A>G (p.Lys988Glu)	ERCC6 (K988E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276298	NM_000124.4(ERCC6):c.2353G>A (p.Val785Ile)	ERCC6 (V785I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252908	NM_000124.4(ERCC6):c.2709G>T (p.Glu903Asp)	ERCC6 (E903D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252138	NM_000124.4(ERCC6):c.2954G>A (p.Arg985Lys)	ERCC6 (R985K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251047	NM_000124.4(ERCC6):c.3459T>C (p.Leu1153=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3244932	NC_000010.10:g.(?_50713984)_(50716275_?)del	ERCC6	Deletion	not provided	GLikely pathogenic
Select item 3244931	NC_000010.10:g.(?_50678218)_(50684366_?)dup	ERCC6	Duplication	not provided	GLikely pathogenic
Select item 3244930	NC_000010.10:g.(?_50701143)_(50714078_?)del	ERCC6	Deletion	not provided	GPathogenic
Select item 3244929	NC_000010.10:g.(?_50708564)_(50714078_?)del	ERCC6	Deletion	not provided	GPathogenic
Select item 3244928	NC_000010.10:g.(?_50732059)_(50732843_?)del	ERCC6, PGBD3	Deletion	not provided	GPathogenic
Select item 3244927	NC_000010.10:g.(?_50666861)_(50667300_?)del	ERCC6	Deletion	not provided	GPathogenic
Select item 3244925	NC_000010.10:g.(?_50669378)_(50669622_?)del	ERCC6	Deletion	not provided	GPathogenic
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 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 3234260	NM_001277058.2(ERCC6):c.2740C>G (p.Gln914Glu)	ERCC6, PGBD3 (Q446E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3211761	NM_170753.3(PGBD3):c.844T>C (p.Cys282Arg)	ERCC6, PGBD3 (C282R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211760	NM_170753.3(PGBD3):c.806T>C (p.Phe269Ser)	ERCC6, PGBD3 (F269S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211759	NM_170753.3(PGBD3):c.805T>C (p.Phe269Leu)	ERCC6, PGBD3 (F737L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211758	NM_170753.3(PGBD3):c.701A>G (p.Asn234Ser)	ERCC6, PGBD3 (N702S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211757	NM_170753.3(PGBD3):c.463A>G (p.Ile155Val)	ERCC6, PGBD3 (I155V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211756	NM_170753.3(PGBD3):c.412G>A (p.Val138Ile)	ERCC6, PGBD3 (V606I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211755	NM_170753.3(PGBD3):c.400G>A (p.Asp134Asn)	ERCC6, PGBD3 (D602N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211754	NM_170753.3(PGBD3):c.1480G>T (p.Val494Phe)	ERCC6, PGBD3 (V494F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211753	NM_170753.3(PGBD3):c.1474G>A (p.Glu492Lys)	ERCC6, PGBD3 (E492K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211751	NM_170753.3(PGBD3):c.1396G>A (p.Ala466Thr)	ERCC6, PGBD3 (A934T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148882	GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3	AGAP10, AGAP9 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3090124	NM_000124.4(ERCC6):c.484G>A (p.Ala162Thr)	ERCC6 (A162T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090123	NM_000124.4(ERCC6):c.4394T>C (p.Val1465Ala)	ERCC6 (V1465A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090122	NM_000124.4(ERCC6):c.3793G>A (p.Val1265Ile)	ERCC6 (V1265I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090120	NM_000124.4(ERCC6):c.3603A>T (p.Arg1201Ser)	ERCC6 (R1201S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090117	NM_000124.4(ERCC6):c.1921C>T (p.His641Tyr)	ERCC6 (H641Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090116	NM_000124.4(ERCC6):c.137C>T (p.Ser46Phe)	ERCC6 (S46F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053719	NM_001277058.2(ERCC6):c.2106T>C (p.Asn702=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3053001	NM_170753.3(PGBD3):c.186G>A (p.Ala62=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	PGBD3-related disorder	GLikely benign
Select item 3049394	NM_001277058.2(ERCC6):c.2247G>T (p.Gly749=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	ERCC6-related disorder	GLikely benign
Select item 3047644	NM_000124.4(ERCC6):c.1284A>G (p.Pro428=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	ERCC6-related disorder	GLikely benign
Select item 3044195	NM_001277058.2(ERCC6):c.1790C>T (p.Thr597Ile)	ERCC6, PGBD3 (T129I +1 more)	Single nucleotide variant (missense variant +1 more)	ERCC6-related disorder	GLikely benign
Select item 3042612	NM_000124.4(ERCC6):c.810C>T (p.Gly270=)	ERCC6	Single nucleotide variant (synonymous variant)	ERCC6-related disorder	GLikely benign
Select item 3038141	NM_170753.3(PGBD3):c.456C>T (p.Asp152=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	PGBD3-related disorder	GLikely benign
Select item 3038133	NM_170753.3(PGBD3):c.1599T>C (p.Pro533=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	PGBD3-related disorder	GLikely benign
Select item 3035824	NM_000124.4(ERCC6):c.2832C>T (p.Ala944=)	ERCC6, LOC126860933	Single nucleotide variant (synonymous variant)	ERCC6-related disorder	GLikely benign
Select item 3027240	NM_000124.4(ERCC6):c.233A>G (p.His78Arg)	ERCC6 (H78R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024167	NM_000124.4(ERCC6):c.2321_2322del (p.Lys774fs)	ERCC6 (K774fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GPathogenic
Select item 3023636	NM_000124.4(ERCC6):c.653-16G>A	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022906	NM_000124.4(ERCC6):c.4062+15del	ERCC6	Deletion (intron variant)	not provided	GLikely benign
Select item 3021641	NM_000124.4(ERCC6):c.1397+20A>G	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020855	NM_000124.4(ERCC6):c.3071-19G>T	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020012	NM_000124.4(ERCC6):c.653-14T>C	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019920	NM_000124.4(ERCC6):c.2028A>G (p.Ser676=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018912	NM_000124.4(ERCC6):c.320_321del (p.Gln107fs)	ERCC6 (Q107fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3018218	NM_000124.4(ERCC6):c.1527-1G>T	ERCC6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3015575	NM_000124.4(ERCC6):c.1397+18A>G	PGBD3, ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015571	NM_000124.4(ERCC6):c.78T>C (p.Asn26=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014335	NM_000124.4(ERCC6):c.2698A>C (p.Arg900=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007883	NM_000124.4(ERCC6):c.2614G>T (p.Glu872Ter)	ERCC6 (E872*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3007777	NM_000124.4(ERCC6):c.4062+14C>T	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007266	NM_000124.4(ERCC6):c.1398-3_1398del	ERCC6	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3007127	NM_000124.4(ERCC6):c.1993-19G>A	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007033	NM_000124.4(ERCC6):c.3611A>C (p.Gln1204Pro)	ERCC6 (Q1204P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004565	NM_000124.4(ERCC6):c.544-19T>G	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002316	NM_000124.4(ERCC6):c.3778+15dup	ERCC6	Duplication (intron variant)	not provided	GLikely benign
Select item 3002150	NM_000124.4(ERCC6):c.1032G>T (p.Gly344=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998581	NM_000124.4(ERCC6):c.422+11C>T	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998005	NM_000124.4(ERCC6):c.4338C>T (p.Ser1446=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996425	NM_000124.4(ERCC6):c.3779-14T>C	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995455	NM_000124.4(ERCC6):c.474C>T (p.Ser158=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992265	NM_000124.4(ERCC6):c.2830-17C>G	ERCC6, LOC126860933	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990296	NM_000124.4(ERCC6):c.2880C>T (p.Tyr960=)	ERCC6, LOC126860933	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988470	NM_000124.4(ERCC6):c.1993-5A>C	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987795	NM_000124.4(ERCC6):c.423-9A>G	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987119	NM_000124.4(ERCC6):c.3591G>A (p.Glu1197=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985409	NM_000124.4(ERCC6):c.544-4C>T	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983716	NM_000124.4(ERCC6):c.2599-13C>G	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980945	NM_000124.4(ERCC6):c.2599-15C>T	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980713	NM_000124.4(ERCC6):c.4191C>T (p.Asn1397=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978230	NM_000124.4(ERCC6):c.3015T>C (p.Phe1005=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978201	NM_000124.4(ERCC6):c.4038A>G (p.Ser1346=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977723	NM_000124.4(ERCC6):c.3778+11del	ERCC6	Deletion (intron variant)	not provided	GLikely benign
Select item 2977141	NM_000124.4(ERCC6):c.2813del (p.Pro938fs)	ERCC6, LOC126860933 (P938fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2975743	NM_000124.4(ERCC6):c.2599-16C>T	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972173	NM_000124.4(ERCC6):c.4287G>A (p.Val1429=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968290	NM_000124.4(ERCC6):c.2170-18T>A	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968147	NM_000124.4(ERCC6):c.4062+11T>C	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967708	NM_000124.4(ERCC6):c.4389T>C (p.Ser1463=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965957	NM_000124.4(ERCC6):c.2571A>G (p.Arg857=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964608	NM_000124.4(ERCC6):c.2481A>G (p.Leu827=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963081	NM_000124.4(ERCC6):c.2287-12T>C	ERCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign

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