ERCC6L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068528, LOC130068529 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	ARMCX5, ARMCX5-GPRASP2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	LOC130068369, LOC130068370 +1399 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	APOO, APOOL +2634 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068308, LOC130068309 +2634 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	LOC126863325, LOC126863326 +2633 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	LOC130067920, LOC130067921 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC126863242, LOC126863243 +1629 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068075, LOC130068076 +2633 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	LOC130068153, LOC130068154 +1933 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC130068278, LOC130068279 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	LOC130068310, LOC130068311 +2633 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC107988022, LOC107988024 +2629 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC130067944, LOC130067945 +2629 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	LOC130067929, LOC130067930 +2633 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068219, LOC130068220 +2633 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863224, LOC126863225 +2632 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC121627971, LOC121627972 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	FUNDC1, FUNDC2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863244, LOC126863245 +2633 more	Copy number gain	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	MAGED2, MAGED4 +1799 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC130068098, LOC130068099 +2633 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LOC126863315, LOC126863316 +2633 more	Copy number gain	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC125467739, LOC125467740 +1494 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	LOC130068055, LOC130068056 +2612 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	CNKSR2, COL4A5 +2604 more	Copy number gain	See cases	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC130068152, LOC130068153 +2594 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068468, LOC130068469 +2594 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067984, LOC130067985 +2596 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	ABCB7, ABCD1 +2586 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2047 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	LOC130068242, LOC130068243 +2103 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	LOC126863280, LOC126863281 +2099 more	Copy number loss	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	IGBP1, IL2RG +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068457, LOC130068458 +824 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	P2RY10, P2RY4 +1590 more	Copy number loss	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 155064	GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1	ABCB7, AMER1 +269 more	Copy number loss	See cases	GPathogenic
Select item 57923	GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	ABCB7, ABCD1 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148479	GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	ABCB7, ABCD1 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068612, LOC130068613 +1467 more	Copy number gain	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 144543	GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	LOC126863288, LOC126863289 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	LOC130068438, LOC130068439 +1464 more	Copy number loss	See cases	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 154251	GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3	ABCB7, AR +206 more	Copy number gain	See cases	GPathogenic
Select item 58640	GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2	FTX, GCNA +175 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 149798	GRCh38/hg38 Xq13.1(chrX:71810439-72381499)x3	CITED1, ERCC6L +19 more	Copy number gain	See cases	GLikely benign
Select item 152896	GRCh38/hg38 Xq13.1(chrX:71991402-72276492)x2	ERCC6L, FLJ44635 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2591669	NM_017669.4(ERCC6L):c.3700C>T (p.Pro1234Ser)	ERCC6L, PIN4 (P1111S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090130	NM_017669.4(ERCC6L):c.3493C>T (p.Pro1165Ser)	ERCC6L, PIN4 (P1165S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1206029	NM_017669.4(ERCC6L):c.3442G>A (p.Gly1148Arg)	ERCC6L, PIN4 (G1025R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660907	NM_017669.4(ERCC6L):c.3408C>T (p.Gly1136=)	ERCC6L, PIN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660908	NM_017669.4(ERCC6L):c.3297T>A (p.Leu1099=)	ERCC6L, PIN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2482991	NM_017669.4(ERCC6L):c.3156A>T (p.Gln1052His)	ERCC6L, PIN4 (Q1052H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482269	NM_017669.4(ERCC6L):c.2825C>A (p.Pro942His)	ERCC6L, PIN4 (P819H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 373501	NM_017669.4(ERCC6L):c.2803_2812del (p.Glu935fs)	ERCC6L, PIN4 (E812fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2477331	NM_017669.4(ERCC6L):c.2710G>C (p.Glu904Gln)	ERCC6L, PIN4 (E781Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276306	NM_017669.4(ERCC6L):c.2702T>C (p.Ile901Thr)	ERCC6L, PIN4 (I901T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315935	NM_017669.4(ERCC6L):c.2686T>G (p.Trp896Gly)	ERCC6L, PIN4 (W773G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388578	NM_017669.4(ERCC6L):c.2659G>A (p.Asp887Asn)	ERCC6L, PIN4 (D764N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276307	NM_017669.4(ERCC6L):c.2588A>G (p.Glu863Gly)	ERCC6L, PIN4 (E863G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2320585	NM_017669.4(ERCC6L):c.2536G>C (p.Glu846Gln)	ERCC6L, PIN4 (E723Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090129	NM_017669.4(ERCC6L):c.2519A>G (p.Asn840Ser)	ERCC6L, PIN4 (N717S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270566	NM_017669.4(ERCC6L):c.2330T>C (p.Ile777Thr)	ERCC6L, PIN4 (I654T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303518	NM_017669.4(ERCC6L):c.2317G>A (p.Ala773Thr)	ERCC6L, PIN4 (A650T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392083	NM_017669.4(ERCC6L):c.2258A>G (p.Gln753Arg)	ERCC6L, PIN4 (Q753R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376842	NM_017669.4(ERCC6L):c.1837A>G (p.Lys613Glu)	ERCC6L, PIN4 (K490E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223012	NM_017669.4(ERCC6L):c.1795G>C (p.Val599Leu)	ERCC6L, PIN4 (V476L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469589	NM_017669.4(ERCC6L):c.1537C>T (p.Leu513Phe)	ERCC6L, PIN4 (L390F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371919	NM_017669.4(ERCC6L):c.1454C>T (p.Ser485Leu)	ERCC6L, PIN4 (S362L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266232	NM_017669.4(ERCC6L):c.1354G>A (p.Asp452Asn)	ERCC6L, PIN4 (D329N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1328355	NM_017669.4(ERCC6L):c.1193G>A (p.Arg398His)	ERCC6L, PIN4 (R275H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3090126	NM_017669.4(ERCC6L):c.1123C>T (p.Pro375Ser)	ERCC6L, PIN4 (P252S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660909	NM_017669.4(ERCC6L):c.1027G>C (p.Ala343Pro)	ERCC6L, PIN4 (A220P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2308493	NM_017669.4(ERCC6L):c.830G>C (p.Gly277Ala)	ERCC6L, PIN4 (G277A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276308	NM_017669.4(ERCC6L):c.749G>A (p.Ser250Asn)	ERCC6L, PIN4 (S127N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618463	NM_017669.4(ERCC6L):c.739A>G (p.Ile247Val)	ERCC6L, PIN4 (I124V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2363190	NM_017669.4(ERCC6L):c.734G>A (p.Arg245His)	ERCC6L, PIN4 (R122H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787159	NM_017669.4(ERCC6L):c.566A>G (p.Asn189Ser)	ERCC6L, PIN4 (N189S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 790292	NM_017669.4(ERCC6L):c.498G>A (p.Lys166=)	ERCC6L, PIN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723908	NM_017669.4(ERCC6L):c.269G>A (p.Arg90Gln)	ERCC6L, PIN4 (R90Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2524720	NM_017669.4(ERCC6L):c.214G>A (p.Glu72Lys)	ERCC6L, PIN4 (E72K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3090128	NM_017669.4(ERCC6L):c.211G>A (p.Ala71Thr)	ERCC6L, PIN4 (A71T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2305251	NM_017669.4(ERCC6L):c.148A>G (p.Ile50Val)	ERCC6L, PIN4 (I50V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance

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