LOC129993816[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 57962	GRCh38/hg38 5p13.2(chr5:36886533-37331810)x3	CPLANE1, CPLANE1-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57963	GRCh38/hg38 5p13.2(chr5:36906275-37606265)x3	CPLANE1, CPLANE1-AS1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 147552	GRCh38/hg38 5p13.2(chr5:37054860-37586108)x3	CPLANE1, CPLANE1-AS1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 151661	GRCh38/hg38 5p13.2(chr5:37150088-37364068)x3	CPLANE1, CPLANE1-AS1 +7 more	Copy number gain	See cases	GLikely benign
Select item 57964	GRCh38/hg38 5p13.2(chr5:37157004-37571897)x3	CPLANE1, CPLANE1-AS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 153988	GRCh38/hg38 5p13.2(chr5:37165366-37721778)x3	CPLANE1, CPLANE1-AS1 +20 more	Copy number gain	See cases	GLikely benign
Select item 152878	GRCh38/hg38 5p13.2(chr5:37239106-37487479)x3	CPLANE1, CPLANE1-AS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 152428	GRCh38/hg38 5p13.2(chr5:37239106-37298497)x4	CPLANE1, CPLANE1-AS1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 152427	GRCh38/hg38 5p13.2(chr5:37239106-37298497)x3	CPLANE1, CPLANE1-AS1 +4 more	Copy number gain	See cases	GLikely benign
Select item 510602	NM_001384732.1(CPLANE1):c.-48+10C>A	CPLANE1, CPLANE1-AS1 +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 904704	NM_001384732.1(CPLANE1):c.-77C>T	CPLANE1, CPLANE1-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 353470	NM_001384732.1(CPLANE1):c.-151C>T	CPLANE1, CPLANE1-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 905488	NM_023073.3(CPLANE1):c.-234G>A	CPLANE1, CPLANE1-AS1 +1 more	Single nucleotide variant	Joubert syndrome 17	GUncertain significance
Select item 369472	NM_023073.3(CPLANE1):c.-234G>C	CPLANE1, CPLANE1-AS1 +1 more	Single nucleotide variant (genic upstream transcript variant)	Familial aplasia of the vermis +1 more	GLikely benign

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Items: 22