291[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 1393736	NC_000022.11:g.40345462C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2088269	NC_000022.11:g.40345463del	ADSL	Deletion	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1376487	NC_000022.11:g.40345472C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1403694	NC_000022.11:g.40345473G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1403845	NC_000022.11:g.40345481C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1505321	NC_000022.11:g.40345484A>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1414740	NC_000022.11:g.40345495T>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1168269	NC_000022.11:g.40345499dup	ADSL	Duplication	Adenylosuccinate lyase deficiency	GBenign
Select item 1516843	NC_000022.11:g.40345502G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1942657	NC_000022.11:g.40345505C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1920408	NC_000022.11:g.40345505C>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1462813	NC_000022.11:g.40345507A>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2110851	NC_000022.11:g.40345513A>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1397309	NC_000022.11:g.40345513A>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2135588	NC_000022.11:g.40345514C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1166957	NC_000022.11:g.40345516C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GBenign
Select item 1919407	NC_000022.11:g.40345517T>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1514096	NC_000022.11:g.40345530C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1469610	NC_000022.11:g.40345544T>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1958964	NC_000022.11:g.40345557A>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1391582	NC_000022.11:g.40345560T>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1379789	NC_000022.11:g.40345563C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1488282	NC_000022.11:g.40345566G>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1505983	NC_000022.11:g.40345568C>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2014233	NC_000022.11:g.40345571T>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1904938	NC_000022.11:g.40345573T>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1517596	NC_000022.11:g.40345587A>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1988991	NC_000022.11:g.40345588_40345589insAAG	ADSL	Insertion	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1988193	NC_000022.11:g.40345588_40345589insAGG	ADSL	Insertion	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1987627	NC_000022.11:g.40345588_40345589insAAAAAAGG	ADSL	Insertion	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1987236	NC_000022.11:g.40345597dup	ADSL	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1904950	NC_000022.11:g.40345588_40345589insAAAAAAAAGG	ADSL	Insertion	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1895554	NC_000022.11:g.40345588_40345589insAAAAAAAG	ADSL	Insertion	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1570168	NC_000022.11:g.40345588_40345589insAAAAAAAGG	ADSL	Insertion	Adenylosuccinate lyase deficiency	GBenign
Select item 1562699	NC_000022.11:g.40345588_40345589insAG	ADSL	Insertion	Adenylosuccinate lyase deficiency	GBenign
Select item 1170724	NC_000022.11:g.40345588_40345589insAAAAG	ADSL	Insertion	Adenylosuccinate lyase deficiency	GBenign
Select item 1167235	NC_000022.11:g.40345588A>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GBenign
Select item 1165311	NC_000022.11:g.40345596_40345597dup	ADSL	Duplication	Adenylosuccinate lyase deficiency	GBenign
Select item 1600062	NC_000022.11:g.40345597del	ADSL	Deletion	Adenylosuccinate lyase deficiency	GBenign
Select item 1170725	NC_000022.11:g.40345589G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GBenign
Select item 1631548	NC_000022.11:g.40345590G>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GLikely benign
Select item 1474265	NC_000022.11:g.40345590G>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1381154	NC_000022.11:g.40345590G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1932060	NC_000022.11:g.40345591G>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2109188	NC_000022.11:g.40345592G>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1515778	NC_000022.11:g.40345592G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1927823	NC_000022.11:g.40345594G>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1467677	NC_000022.11:g.40345595G>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1899312	NC_000022.11:g.40345596G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1524248	NC_000022.11:g.40345597G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1472856	NC_000022.11:g.40345597G>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1485088	NC_000022.11:g.40345598C>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2100267	NC_000022.11:g.40345600A>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1976534	NC_000022.11:g.40345601C>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1505799	NC_000022.11:g.40345604G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2133121	NC_000022.11:g.40345606G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1170726	NC_000022.11:g.40345614_40345615del	ADSL	Deletion	Adenylosuccinate lyase deficiency	GBenign
Select item 1351963	NC_000022.11:g.40345621TTTA[2]	ADSL	Microsatellite	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2714227	NC_000022.11:g.40345622_40345627del	ADSL	Deletion	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1487093	NC_000022.11:g.40345624A>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1497678	NC_000022.11:g.40345631T>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1507812	NC_000022.11:g.40345635dup	ADSL	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1511490	NC_000022.11:g.40345634T>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1347913	NC_000022.11:g.40345636_40345639del	ADSL	Deletion	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1997126	NC_000022.11:g.40345636_40345637del	ADSL	Deletion	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1438912	NC_000022.11:g.40345635T>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1170186	NC_000022.11:g.40345636C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GBenign
Select item 1358993	NC_000022.11:g.40345639T>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1500216	NC_000022.11:g.40345647dup	ADSL	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1497017	NC_000022.11:g.40345643T>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2118794	NC_000022.11:g.40345651G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2009745	NC_000022.11:g.40345658T>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1471476	NC_000022.11:g.40345661C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2063825	NC_000022.11:g.40345663CT[1]	ADSL	Microsatellite	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1357751	NC_000022.11:g.40345669C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1897605	NC_000022.11:g.40345670G>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1900841	NC_000022.11:g.40345676G>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1358939	NC_000022.11:g.40345676G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1400342	NC_000022.11:g.40345683T>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1509219	NC_000022.11:g.40345686A>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1511083	NC_000022.11:g.40345694G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1367744	NC_000022.11:g.40345697C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1470986	NC_000022.11:g.40345699del	ADSL	Deletion	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1401957	NC_000022.11:g.40345705A>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2098899	NC_000022.11:g.40345709C>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1447400	NC_000022.11:g.40345709C>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2122066	NC_000022.11:g.40345714_40345716dup	ADSL	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1472031	NC_000022.11:g.40345716C>T	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2083598	NC_000022.11:g.40345723C>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2768537	NC_000022.11:g.40345726G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1473645	NC_000022.11:g.40345742T>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1516309	NC_000022.11:g.40345764G>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1358195	NC_000022.11:g.40345770A>G	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1349156	NC_000022.11:g.40345803dup	ADSL	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1475437	NC_000022.11:g.40345805T>C	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance

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