CFDP1[gene] - ClinVar

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

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 59996	GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3	BCAR1, CFDP1 +75 more	Copy number gain	See cases	GUncertain significance
Select item 60021	GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3	BCAR1, CFDP1 +60 more	Copy number gain	See cases	GUncertain significance
Select item 153591	GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3	BCAR1, CFDP1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 150246	GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	ADAT1, BCAR1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 146037	GRCh38/hg38 16q23.1(chr16:74881191-75310294)x1	BCAR1, CFDP1 +42 more	Copy number loss	See cases	GUncertain significance
Select item 155122	GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3	ADAT1, BCAR1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 2631405	NM_006324.3(CFDP1):c.813C>G (p.Tyr271Ter)	CFDP1 (Y271*)	Single nucleotide variant (nonsense)	CFDP1-related disorder	GUncertain significance
Select item 3143790	NM_006324.3(CFDP1):c.805G>A (p.Glu269Lys)	CFDP1 (E269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509508	NM_006324.3(CFDP1):c.797G>T (p.Arg266Leu)	CFDP1 (R266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053108	NM_006324.3(CFDP1):c.726G>A (p.Glu242=)	CFDP1	Single nucleotide variant (synonymous variant)	CFDP1-related disorder	GLikely benign
Select item 3143789	NM_006324.3(CFDP1):c.725A>G (p.Glu242Gly)	CFDP1 (E242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 2388916	NM_006324.3(CFDP1):c.647C>T (p.Ser216Leu)	CFDP1 (S216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046059	NM_006324.3(CFDP1):c.642C>T (p.Ala214=)	CFDP1	Single nucleotide variant (synonymous variant)	CFDP1-related disorder	GLikely benign
Select item 3266581	NM_006324.3(CFDP1):c.628C>T (p.Pro210Ser)	CFDP1 (P210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216735	NM_006324.3(CFDP1):c.622G>C (p.Ala208Pro)	CFDP1 (A208P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266580	NM_006324.3(CFDP1):c.608C>T (p.Ala203Val)	CFDP1 (A203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362579	NM_006324.3(CFDP1):c.599A>C (p.Lys200Thr)	CFDP1 (K200T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646876	NM_006324.3(CFDP1):c.555A>G (p.Thr185=)	CFDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3143788	NM_006324.3(CFDP1):c.547G>A (p.Asp183Asn)	CFDP1 (D183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266582	NM_006324.3(CFDP1):c.425C>G (p.Thr142Arg)	CFDP1 (T142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470729	NM_006324.3(CFDP1):c.400A>G (p.Lys134Glu)	CFDP1 (K134E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143787	NM_006324.3(CFDP1):c.325A>G (p.Lys109Glu)	CFDP1 (K109E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143786	NM_006324.3(CFDP1):c.292A>G (p.Lys98Glu)	CFDP1 (K98E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458662	NM_006324.3(CFDP1):c.277G>T (p.Ala93Ser)	CFDP1 (A93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054259	NM_006324.3(CFDP1):c.270A>G (p.Glu90=)	CFDP1	Single nucleotide variant (synonymous variant)	CFDP1-related disorder	GLikely benign
Select item 3143785	NM_006324.3(CFDP1):c.251G>A (p.Gly84Glu)	CFDP1 (G84E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560630	NM_006324.3(CFDP1):c.199G>A (p.Gly67Ser)	CFDP1 (G67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038964	NM_006324.3(CFDP1):c.178G>A (p.Ala60Thr)	CFDP1 (A60T)	Single nucleotide variant (missense variant)	CFDP1-related disorder	GLikely benign
Select item 3143784	NM_006324.3(CFDP1):c.168G>C (p.Gln56His)	CFDP1 (Q56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143783	NM_006324.3(CFDP1):c.112G>C (p.Glu38Gln)	CFDP1 (E38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031738	NM_006324.3(CFDP1):c.60G>T (p.Pro20=)	CFDP1	Single nucleotide variant (synonymous variant)	CFDP1-related disorder	GLikely benign
Select item 3052999	NM_006324.3(CFDP1):c.28T>C (p.Ser10Pro)	CFDP1 (S10P)	Single nucleotide variant (missense variant)	CFDP1-related disorder	GLikely benign
Select item 3063405	GRCh37/hg19 16q23.1(chr16:75407039-75524905)x1	CFDP1, CHST6 +1 more	Copy number loss	not specified	GPathogenic
Select item 3063404	GRCh37/hg19 16q22.3-23.1(chr16:74079694-75352818)x1	BCAR1, CFDP1 +13 more	Copy number loss	not specified	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2426812	NC_000016.9:g.(?_74485954)_(75339100_?)dup	BCAR1, CFDP1 +10 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 1809475	GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1	ADAT1, BCAR1 +21 more	Copy number loss	not provided	GUncertain significance
Select item 1809401	GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	ADAMTS18, ADAT1 +29 more	Copy number loss	not provided	GUncertain significance
Select item 1809163	GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4	ADAT1, BCAR1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1682045	NC_000016.9:g.(?_75428968)_(75690509_?)del	CHST5, GABARAPL2 +7 more	Deletion	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1459206	NC_000016.9:g.(?_74748068)_(75513746_?)del	BCAR1, CFDP1 +9 more	Deletion	Macular corneal dystrophy	GPathogenic
Select item 980695	GRCh37/hg19 16q23.1(chr16:75281963-75665698)x3	CFDP1, KARS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979473	GRCh37/hg19 16q23.1(chr16:75064591-75549654)x1	ZFP1, BCAR1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815831	GRCh37/hg19 16q23.1(chr16:74356233-75432089)x1	WDR59, NPIPB15 +12 more	Copy number loss	not provided	GUncertain significance
Select item 688952	GRCh37/hg19 16q23.1(chr16:75308148-75402790)x3	CFDP1	Copy number gain	not provided	GUncertain significance
Select item 687487	GRCh37/hg19 16q23.1(chr16:75225021-75533658)x3	BCAR1, CFDP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686376	GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1	ADAMTS18, ADAT1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 685979	GRCh37/hg19 16q23.1(chr16:75275780-75684031)x1	ADAT1, BCAR1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 624544	GRCh37/hg19 16q23.1(chr16:75411853-75567059)x3	CFDP1, CHST5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +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	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +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 441933	GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1	ADAT1, BCAR1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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: 78