375748[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 217298	GRCh37/hg19 9q22.32(97579146-99280739)x1	LOC124310599, LOC124310600 +94 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 59120	GRCh38/hg38 9q22.32(chr9:95046229-96111163)x1	AOPEP, ERCC6L2 +52 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 1165173	NM_020207.7(ERCC6L2):c.-33A>G	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2848626	NM_020207.7(ERCC6L2):c.-32T>G	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2189355	NM_020207.7(ERCC6L2):c.-30C>G	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1397656	NM_020207.7(ERCC6L2):c.-26C>T	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1357077	NM_020207.7(ERCC6L2):c.-24G>C	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1611951	NM_020207.7(ERCC6L2):c.-16C>T	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1169826	NM_020207.7(ERCC6L2):c.-15C>T	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1166672	NM_020207.7(ERCC6L2):c.-13_-12delinsAA	ERCC6L2	Indel (5 prime UTR variant +1 more)	not provided	GBenign
Select item 731230	NM_020207.7(ERCC6L2):c.-13T>A	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2459863	NM_020207.7(ERCC6L2):c.-12C>T	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 731231	NM_020207.7(ERCC6L2):c.-12C>A	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2005948	NM_020207.7(ERCC6L2):c.-10C>T	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1981043	NM_020207.7(ERCC6L2):c.-9C>G	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 732858	NM_020207.7(ERCC6L2):c.-8C>G	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 3276309	NM_020207.7(ERCC6L2):c.-2G>C	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3000302	NM_020207.7(ERCC6L2):c.-1G>C	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1920612	NM_020207.7(ERCC6L2):c.-1G>T	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2261799	NM_020207.7(ERCC6L2):c.4G>A (p.Asp2Asn)	ERCC6L2 (D2N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1491274	NM_020207.7(ERCC6L2):c.5A>G (p.Asp2Gly)	ERCC6L2 (D2G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1362431	NM_020207.7(ERCC6L2):c.8C>T (p.Pro3Leu)	ERCC6L2 (P3L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1166945	NM_020207.7(ERCC6L2):c.8C>A (p.Pro3Gln)	ERCC6L2 (P3Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2855207	NM_020207.7(ERCC6L2):c.9G>T (p.Pro3=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2736542	NM_020207.7(ERCC6L2):c.13G>C (p.Ala5Pro)	ERCC6L2 (A5P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2163145	NM_020207.7(ERCC6L2):c.15G>C (p.Ala5=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1912791	NM_020207.7(ERCC6L2):c.16C>T (p.Pro6Ser)	ERCC6L2 (P6S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1515900	NM_020207.7(ERCC6L2):c.17C>A (p.Pro6Gln)	ERCC6L2 (P6Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1716475	NM_020207.7(ERCC6L2):c.19C>G (p.Gln7Glu)	ERCC6L2 (Q7E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 421974	NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter)	ERCC6L2 (Q7*)	Single nucleotide variant (nonsense +1 more)	Pancytopenia-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1624507	NM_020207.7(ERCC6L2):c.21G>A (p.Gln7=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 235252	NM_020207.7(ERCC6L2):c.21G>C (p.Gln7His)	ERCC6L2 (Q7H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3057172	NM_020207.7(ERCC6L2):c.24C>T (p.Pro8=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	ERCC6L2-related disorder	GLikely benign
Select item 1035512	NM_020207.7(ERCC6L2):c.29C>T (p.Ala10Val)	ERCC6L2 (A10V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2782050	NM_020207.7(ERCC6L2):c.31G>T (p.Glu11Ter)	ERCC6L2 (E11*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1638185	NM_020207.7(ERCC6L2):c.39A>G (p.Ser13=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1957065	NM_020207.7(ERCC6L2):c.44A>G (p.Lys15Arg)	ERCC6L2 (K15R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1928038	NM_020207.7(ERCC6L2):c.46+10C>T	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837413	NM_020207.7(ERCC6L2):c.46+19C>G	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988403	NM_020207.7(ERCC6L2):c.46+20C>G	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651527	NM_020207.7(ERCC6L2):c.46+20C>T	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543191	NM_020207.7(ERCC6L2):c.47-10A>G	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1698108	NM_020207.7(ERCC6L2):c.52T>C (p.Trp18Arg)	ERCC6L2 (W18R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1916676	NM_020207.7(ERCC6L2):c.74T>C (p.Leu25Pro)	ERCC6L2 (L25P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1506440	NM_020207.7(ERCC6L2):c.77C>T (p.Ala26Val)	ERCC6L2 (A26V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1491647	NM_020207.7(ERCC6L2):c.85C>A (p.Pro29Thr)	ERCC6L2 (P29T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796033	NM_020207.7(ERCC6L2):c.95G>C (p.Gly32Ala)	ERCC6L2 (G32A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014155	NM_020207.7(ERCC6L2):c.102T>C (p.Leu34=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1461558	NM_020207.7(ERCC6L2):c.115A>G (p.Ile39Val)	ERCC6L2 (I39V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1928688	NM_020207.7(ERCC6L2):c.117A>G (p.Ile39Met)	ERCC6L2 (I39M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1714102	NM_020207.7(ERCC6L2):c.121T>A (p.Ser41Thr)	ERCC6L2 (S41T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2029756	NM_020207.7(ERCC6L2):c.129A>G (p.Thr43=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1936832	NM_020207.7(ERCC6L2):c.133G>A (p.Asp45Asn)	ERCC6L2 (D45N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1415116	NM_020207.7(ERCC6L2):c.153dup (p.Ala52fs)	ERCC6L2 (A52fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1608071	NM_020207.7(ERCC6L2):c.159C>T (p.Val53=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1337357	NM_020207.7(ERCC6L2):c.160G>A (p.Val54Ile)	ERCC6L2 (V54I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2032493	NM_020207.7(ERCC6L2):c.162C>A (p.Val54=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1034369	NM_020207.7(ERCC6L2):c.163T>G (p.Leu55Val)	ERCC6L2 (L55V)	Single nucleotide variant (missense variant +1 more)	Pancytopenia-developmental delay syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2969089	NM_020207.7(ERCC6L2):c.168T>G (p.Tyr56Ter)	ERCC6L2 (Y56*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1647580	NM_020207.7(ERCC6L2):c.177T>C (p.Phe59=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1375659	NM_020207.7(ERCC6L2):c.190A>G (p.Ile64Val)	ERCC6L2 (I64V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1911247	NM_020207.7(ERCC6L2):c.193C>T (p.Pro65Ser)	ERCC6L2 (P65S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1018355	NM_020207.7(ERCC6L2):c.203A>G (p.Gln68Arg)	ERCC6L2 (Q68R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2103059	NM_020207.7(ERCC6L2):c.205C>G (p.Leu69Val)	ERCC6L2 (L69V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973033	NM_020207.7(ERCC6L2):c.207T>G (p.Leu69=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1430506	NM_020207.7(ERCC6L2):c.224T>G (p.Val75Gly)	ERCC6L2 (V75G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1478671	NM_020207.7(ERCC6L2):c.239G>A (p.Arg80Lys)	ERCC6L2 (R80K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1338016	NM_020207.7(ERCC6L2):c.258T>A (p.Asp86Glu)	ERCC6L2 (D86E)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2053591	NM_020207.7(ERCC6L2):c.262G>C (p.Asp88His)	ERCC6L2 (D88H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1506390	NM_020207.7(ERCC6L2):c.268G>C (p.Glu90Gln)	ERCC6L2 (E90Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1714748	NM_020207.7(ERCC6L2):c.274C>T (p.Pro92Ser)	ERCC6L2 (P92S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2089846	NM_020207.7(ERCC6L2):c.282C>T (p.Phe94=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1479907	NM_020207.7(ERCC6L2):c.283C>G (p.Pro95Ala)	ERCC6L2 (P95A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1411895	NM_020207.7(ERCC6L2):c.290G>A (p.Arg97Gln)	ERCC6L2 (R97Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2723463	NM_020207.7(ERCC6L2):c.297T>G (p.Phe99Leu)	ERCC6L2 (F99L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2052358	NM_020207.7(ERCC6L2):c.300ATC[1] (p.Ser103del)	ERCC6L2 (S103del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2659325	NM_020207.7(ERCC6L2):c.301T>C (p.Ser101Pro)	ERCC6L2 (S101P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1354261	NM_020207.7(ERCC6L2):c.305C>T (p.Ser102Phe)	ERCC6L2 (S102F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956211	NM_020207.7(ERCC6L2):c.306T>C (p.Ser102=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2718243	NM_020207.7(ERCC6L2):c.328G>C (p.Asp110His)	ERCC6L2 (D110H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1522327	NM_020207.7(ERCC6L2):c.333T>A (p.Asn111Lys)	ERCC6L2 (N111K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 791302	NM_020207.7(ERCC6L2):c.375C>G (p.Asp125Glu)	ERCC6L2 (D125E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2920230	NM_020207.7(ERCC6L2):c.378C>T (p.Tyr126=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 728402	NM_020207.7(ERCC6L2):c.379C>G (p.Gln127Glu)	ERCC6L2 (Q127E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

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