LOC129993895[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 24

	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 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 1453435	NM_021147.5(CCNO):c.307C>T (p.Gln103Ter)	CCNO, LOC129993895 (Q103*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 665010	NM_021147.5(CCNO):c.302del (p.Tyr101fs)	CCNO, LOC129993895 (Y101fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2169682	NM_021147.5(CCNO):c.301T>C (p.Tyr101His)	CCNO, LOC129993895 (Y101H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 761081	NM_021147.5(CCNO):c.288G>A (p.Gln96=)	CCNO, LOC129993895	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2826130	NM_021147.5(CCNO):c.285A>G (p.Leu95=)	CCNO, LOC129993895	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1020171	NM_021147.5(CCNO):c.281A>G (p.Asp94Gly)	CCNO, LOC129993895 (D94G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139987	NM_021147.5(CCNO):c.280G>C (p.Asp94His)	CCNO, LOC129993895 (D94H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 665170	NM_021147.5(CCNO):c.259_268dup (p.Val90fs)	LOC129993895, CCNO (V90fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 139603	NM_021147.5(CCNO):c.263_267dup (p.Val90fs)	CCNO, LOC129993895 (V90fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 3139986	NM_021147.5(CCNO):c.266C>T (p.Pro89Leu)	CCNO, LOC129993895 (P89L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1698884	NM_021147.5(CCNO):c.265C>G (p.Pro89Ala)	CCNO, LOC129993895 (P89A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 525413	NM_021147.5(CCNO):c.264G>T (p.Gln88His)	CCNO, LOC129993895 (Q88H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1514336	NM_021147.5(CCNO):c.248_262dup (p.Leu83_Ala87dup)	CCNO, LOC129993895	Duplication (inframe_insertion +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 139600	NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)	CCNO, LOC129993895 (Q88fs)	Microsatellite (frameshift variant +1 more)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 1417074	NM_021147.5(CCNO):c.254G>C (p.Gly85Ala)	CCNO, LOC129993895 (G85A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 139599	NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)	CCNO, LOC129993895 (G85fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 2861474	NM_021147.5(CCNO):c.247C>T (p.Leu83=)	CCNO, LOC129993895	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2728229	NM_021147.5(CCNO):c.231G>A (p.Ala77=)	CCNO, LOC129993895	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24