CFDP1[gene] - ClinVar

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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	LOC130059149, LOC130059150 +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	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +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	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +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	ACSF3, ADAD2 +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	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1682045	NC_000016.9:g.(?_75428968)_(75690509_?)del	CHST5, CHST6 +7 more	Deletion	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 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	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 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 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	DPEP2, DPEP3 +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	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: 78