CFAP20[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 59992	GRCh38/hg38 16q21(chr16:58082578-58578082)x3	CCDC113, CFAP20 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2292595	NM_013242.3(CFAP20):c.481C>A (p.Arg161Ser)	CFAP20 (R161S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701091	NM_013242.3(CFAP20):c.457A>G (p.Arg153Gly)	CFAP20 (R153G)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy	GLikely pathogenic
Select item 1701089	NM_013242.3(CFAP20):c.397del (p.Gln133fs)	CFAP20 (Q133fs)	Deletion (frameshift variant +1 more)	Rod-cone dystrophy	GLikely pathogenic
Select item 1334470	NM_013242.3(CFAP20):c.337C>T (p.Arg113Trp)	CFAP20 (R113W)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy	GUncertain significance
Select item 1701087	NM_013242.3(CFAP20):c.305G>A (p.Arg102His)	CFAP20 (R102H)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy	GLikely pathogenic
Select item 2245712	NM_013242.3(CFAP20):c.301C>T (p.Arg101Cys)	CFAP20 (R101C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701088	NM_013242.3(CFAP20):c.257A>G (p.Tyr86Cys)	CFAP20 (Y86C)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy	GLikely pathogenic
Select item 2542498	NM_013242.3(CFAP20):c.247C>G (p.Leu83Val)	CFAP20 (L83V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701090	NM_013242.3(CFAP20):c.164+1G>A	CFAP20	Single nucleotide variant (splice donor variant)	Rod-cone dystrophy	GLikely pathogenic
Select item 3143347	NM_013242.3(CFAP20):c.115G>A (p.Asp39Asn)	CFAP20 (D39N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143348	NM_013242.3(CFAP20):c.62C>G (p.Pro21Arg)	CFAP20, LOC101927556 (P21R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	KIFC3, MMP15 +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	CCL17, CCL22 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 980681	GRCh37/hg19 16q21(chr16:58143012-58686508)x3	CCDC113, CFAP20 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980679	GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1	CCL17, ADGRG1 +28 more	Copy number loss	not provided	GUncertain significance
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564334	GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1	ADGRG1, ADGRG3 +35 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 38