LOC126860782[gene] - ClinVar

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Items: 48

	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 1281883	NM_015046.7(SETX):c.7287+279G>A	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208819	NM_015046.7(SETX):c.7287+207C>T	LOC126860782, SETX (L2457F)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 4 +2 more	GLikely benign
Select item 365345	NM_015046.7(SETX):c.7287+9C>A	LOC126860782, SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 4 +1 more	GConflicting classifications of pathogenicity
Select item 1219771	NM_015046.7(SETX):c.7287+3del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 1096426	NM_015046.7(SETX):c.7281C>G (p.Thr2427=)	LOC126860782, SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 1919342	NM_015046.7(SETX):c.7271A>G (p.His2424Arg)	LOC126860782, SETX (H2424R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 994957	NM_015046.7(SETX):c.7266C>T (p.Leu2422=)	LOC126860782, SETX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3354634	NM_015046.7(SETX):c.7251C>T (p.Tyr2417=)	LOC126860782, SETX	Single nucleotide variant (synonymous variant)	SETX-related disorder	GLikely benign
Select item 2192220	NM_015046.7(SETX):c.7248G>A (p.Lys2416=)	LOC126860782, SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 1343328	NM_015046.7(SETX):c.7235T>C (p.Ile2412Thr)	LOC126860782, SETX (I2412T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 2043181	NM_015046.7(SETX):c.7234A>G (p.Ile2412Val)	LOC126860782, SETX (I2412V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 2951814	NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)	LOC126860782, SETX (V2410A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2922459	NM_015046.7(SETX):c.7222T>C (p.Leu2408=)	LOC126860782, SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 569576	NM_015046.7(SETX):c.7204C>G (p.Leu2402Val)	LOC126860782, SETX (L2402V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 2153069	NM_015046.7(SETX):c.7203C>T (p.Phe2401=)	LOC126860782, SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 2684373	NM_015046.7(SETX):c.7200-3T>C	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 468523	NM_015046.7(SETX):c.7200-10dup	LOC126860782, SETX	Duplication (intron variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign/Likely benign
Select item 440265	NM_015046.7(SETX):c.7200-11_7200-10del	LOC126860782, SETX	Deletion (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1629699	NM_015046.7(SETX):c.7200-15T>C	LOC126860782, SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 1683991	NM_015046.7(SETX):c.7200-172_7200-171del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely benign
Select item 1225051	NM_015046.7(SETX):c.7200-171G>A	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261238	NM_015046.7(SETX):c.7200-190A>G	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190338	NM_015046.7(SETX):c.7200-191_7200-190del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely benign
Select item 1209087	NM_015046.7(SETX):c.7200-198_7200-195del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely benign

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Items: 48