ClinVar for Gene (Select 101928089) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582786	GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1	ADSS2, AHCTF1 +118 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	SNORA100, SPMIP3 +274 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	LINC01743, LINC02774 +235 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 549577	NC_000001.11:g.246005506_246528998dup	LINC01743, LOC110121251 +15 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 155020	GRCh38/hg38 1q44(chr1:245542908-246544740)x3	KIF26B, LINC01743 +21 more	Copy number gain	See cases	GUncertain significance
Select item 154858	GRCh38/hg38 1q44(chr1:246031233-246443488)x3	LOC110121251, LOC120947224 +12 more	Copy number gain	See cases	GLikely benign
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +282 more	Copy number loss	See cases	GPathogenic
Select item 154428	GRCh38/hg38 1q44(chr1:245979870-246615151)x3	CNST, LINC01743 +20 more	Copy number gain	See cases	GLikely benign
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 153987	GRCh38/hg38 1q44(chr1:245299178-246310558)x3	KIF26B, LOC110121251 +16 more	Copy number gain	See cases	GUncertain significance
Select item 153842	GRCh38/hg38 1q44(chr1:245963305-246590116)x3	CNST, LINC01743 +20 more	Copy number gain	See cases	GUncertain significance
Select item 153110	GRCh38/hg38 1q44(chr1:246097511-246265839)x1	LOC122152356, LOC126806083 +7 more	Copy number loss	See cases	GUncertain significance
Select item 151433	GRCh38/hg38 1q44(chr1:245952736-246624559)x3	CNST, LINC01743 +20 more	Copy number gain	See cases	GUncertain significance
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +243 more	Copy number loss	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 148609	GRCh38/hg38 1q44(chr1:245805927-246647918)x3	CNST, LINC01743 +25 more	Copy number gain	See cases	GUncertain significance
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +301 more	Copy number loss	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	LOC122152349, LOC122152350 +272 more	Copy number loss	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	LOC122152355, LOC122152356 +230 more	Copy number gain	See cases	GPathogenic
Select item 147900	GRCh38/hg38 1q44(chr1:245584422-246492114)x3	KIF26B, LOC110121251 +17 more	Copy number gain	See cases	GBenign
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	OR2T27, OR2T29 +655 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	OR2L2, OR2L3 +202 more	Copy number loss	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 145399	GRCh38/hg38 1q44(chr1:245542907-246492051)x3	KIF26B, LOC110121251 +18 more	Copy number gain	See cases	GLikely benign
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 144508	GRCh38/hg38 1q44(chr1:244923388-246158204)x3	EFCAB2, KIF26B +24 more	Copy number gain	See cases	GUncertain significance
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +168 more	Copy number gain	See cases	GPathogenic
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +226 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	LOC129932970, LOC129932971 +253 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +183 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	OR11L1, OR13G1 +264 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +276 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	ADSS2, AHCTF1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	ADSS2, AHCTF1 +237 more	Copy number gain	See cases	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	LOC128598893, LOC128598894 +273 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 57850	GRCh38/hg38 1q44(chr1:246031245-247245758)x3	AHCTF1, CNST +59 more	Copy number gain	See cases	GUncertain significance
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 48