23064[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 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 58500	GRCh38/hg38 9q34.13(chr9:131702422-132271840)x3	LOC113839534, LOC121366032 +25 more	Copy number gain	See cases	GUncertain significance
Select item 365300	NM_015046.7(SETX):c.*2753G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365301	NM_015046.7(SETX):c.*2639T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365302	NM_015046.7(SETX):c.*2610T>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365303	NM_015046.7(SETX):c.2576_2577del	SETX	Deletion (3 prime UTR variant)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 365304	NM_015046.7(SETX):c.*2506T>C	SETX	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 913305	NM_015046.7(SETX):c.*2384T>A	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GUncertain significance
Select item 913306	NM_015046.7(SETX):c.*2287T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365305	NM_015046.7(SETX):c.*2262A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +2 more	GBenign
Select item 365306	NM_015046.7(SETX):c.*2232T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign/Likely benign
Select item 914424	NM_015046.7(SETX):c.*2190A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GConflicting classifications of pathogenicity
Select item 365307	NM_015046.7(SETX):c.*2136A>T	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365308	NM_015046.7(SETX):c.*2065dup	SETX	Duplication (3 prime UTR variant)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 914425	NM_015046.7(SETX):c.*2016G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 914426	NM_015046.7(SETX):c.*2015C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365309	NM_015046.7(SETX):c.*2002A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 914944	NM_015046.7(SETX):c.*1987T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 914945	NM_015046.7(SETX):c.*1803G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GConflicting classifications of pathogenicity
Select item 914946	NM_015046.7(SETX):c.*1800C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 912990	NM_015046.7(SETX):c.*1722A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365310	NM_015046.7(SETX):c.*1713C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365311	NM_015046.7(SETX):c.*1700G>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +2 more	GBenign/Likely benign
Select item 912991	NM_015046.7(SETX):c.*1688A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365312	NM_015046.7(SETX):c.*1534G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365313	NM_015046.7(SETX):c.*1523A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 913357	NM_015046.7(SETX):c.*1494A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 913358	NM_015046.7(SETX):c.*1487A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365314	NM_015046.7(SETX):c.*1454C>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365315	NM_015046.7(SETX):c.*1442T>G	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365316	NM_015046.7(SETX):c.*1433A>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 914480	NM_015046.7(SETX):c.*1420A>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 914990	NM_015046.7(SETX):c.*1370G>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 365317	NM_015046.7(SETX):c.*1368G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +2 more	GBenign
Select item 365318	NM_015046.7(SETX):c.*1365G>T	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GBenign
Select item 365319	NM_015046.7(SETX):c.*1288T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 1678432	NM_015046.7(SETX):c.*1282C>T	SETX	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 913037	NM_015046.7(SETX):c.*1233A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365320	NM_015046.7(SETX):c.*1224G>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 913039	NM_015046.7(SETX):c.*1148T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 913038	NM_015046.7(SETX):c.*1148T>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 365321	NM_015046.7(SETX):c.*1052T>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 913406	NM_015046.7(SETX):c.*1050A>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365322	NM_015046.7(SETX):c.*988G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365323	NM_015046.7(SETX):c.*905A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign/Likely benign
Select item 365324	NM_015046.7(SETX):c.*891T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 914520	NM_015046.7(SETX):c.*869C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365325	NM_015046.7(SETX):c.*849G>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 365326	NM_015046.7(SETX):c.*717T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 365327	NM_015046.7(SETX):c.*666C>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365328	NM_015046.7(SETX):c.*626C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +2 more	GBenign
Select item 915043	NM_015046.7(SETX):c.*608G>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365329	NM_015046.7(SETX):c.*562C>A	SETX	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 365330	NM_015046.7(SETX):c.*561A>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 365331	NM_015046.7(SETX):c.*548A>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 912318	NM_015046.7(SETX):c.*491G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 912319	NM_015046.7(SETX):c.*475A>C	SETX	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 365332	NM_015046.7(SETX):c.431_432del	SETX	Deletion (3 prime UTR variant)	Amyotrophic Lateral Sclerosis, Dominant +3 more	GBenign/Likely benign
Select item 1261811	NM_015046.7(SETX):c.*430dup	SETX	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 365333	NM_015046.7(SETX):c.*351G>T	SETX	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 365334	NM_015046.7(SETX):c.*319C>T	SETX	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 365335	NM_015046.7(SETX):c.*266A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GConflicting classifications of pathogenicity
Select item 913443	NM_015046.7(SETX):c.*254C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1215767	NM_015046.7(SETX):c.*200T>G	SETX	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 913822	NM_015046.7(SETX):c.*168C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign/Likely benign
Select item 913823	NM_015046.7(SETX):c.*13A>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 586536	NM_015046.7(SETX):c.*7C>T	SETX	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2684364	NM_015046.7(SETX):c.*2A>G	SETX	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2038494	NM_015046.7(SETX):c.8030dup (p.Leu2677fs)	SETX (L2706fs +1 more)	Duplication (frameshift variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 642088	NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe)	SETX (L2677F +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2066901	NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)	SETX (R2674fs +1 more)	Microsatellite (frameshift variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 3160723	NM_015046.7(SETX):c.8017A>G (p.Lys2673Glu)	SETX (K2702E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 426354	NM_015046.7(SETX):c.7995G>T (p.Glu2665Asp)	SETX (E2665D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805437	NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro)	SETX (L2693P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1079872	NM_015046.7(SETX):c.7990C>T (p.Leu2664=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 3349947	NM_015046.7(SETX):c.7989A>G (p.Thr2663=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related disorder	GLikely benign
Select item 1163903	NM_015046.7(SETX):c.7985G>A (p.Arg2662Lys)	SETX (R2662K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1465019	NM_015046.7(SETX):c.7984del (p.Arg2662fs)	SETX (R2691fs +1 more)	Deletion (frameshift variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance

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