ClinVar for Gene (Select 440585) - ClinVar

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

Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	GPathogenic
Select item 3143328	NM_001101376.3(CFAP144):c.201T>G (p.Phe67Leu)	CFAP144 (F67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143327	NM_001101376.3(CFAP144):c.190G>A (p.Asp64Asn)	CFAP144 (D64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143326	NM_001101376.3(CFAP144):c.170A>G (p.Asp57Gly)	CFAP144 (D57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143325	NM_001101376.3(CFAP144):c.166C>T (p.His56Tyr)	CFAP144 (H56Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 2685798	GRCh37/hg19 1p34.2(chr1:43431433-43787962)x3	C1orf210, CFAP144 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2594919	NM_001101376.3(CFAP144):c.310C>T (p.Arg104Cys)	CFAP144 (R104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459678	NM_001101376.3(CFAP144):c.379G>A (p.Gly127Ser)	CFAP144 (G127S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2425602	NC_000001.10:g.(?_43392712)_(43675755_?)dup	CFAP144, CFAP57 +2 more	Duplication	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 1710363	NM_001101376.3(CFAP144):c.298A>G (p.Ile100Val)	CFAP144 (I100V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1334644	NM_001101376.3(CFAP144):c.377G>A (p.Trp126Ter)	CFAP144 (W126*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1070387	NC_000001.10:g.(?_43392692)_(43870241_?)del	CDC20, CFAP144 +10 more	Deletion	not provided	GPathogenic
Select item 783936	NM_001101376.3(CFAP144):c.358_359del (p.Leu120fs)	CFAP144 (L120fs)	Microsatellite (frameshift variant)	not provided	GBenign
Select item 689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	ARTN, ATP6V0B +24 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 24