CUZD1[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	FGFR2, GRK5 +119 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 150986	GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1	ACADSB, ARMS2 +81 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 146585	GRCh38/hg38 10q26.13(chr10:122741466-122844963)x3	CUZD1, FAM24B-CUZD1 +1 more	Copy number gain	See cases	GBenign
Select item 58820	GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1	ABRAXAS2, ACADSB +164 more	Copy number loss	See cases	GPathogenic
Select item 2491602	NM_022034.6(CUZD1):c.1789G>A (p.Ala597Thr)	CUZD1, FAM24B-CUZD1 (A597T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3079073	NM_022034.6(CUZD1):c.1762A>C (p.Thr588Pro)	CUZD1, FAM24B-CUZD1 (T588P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3079072	NM_022034.6(CUZD1):c.1759A>G (p.Ile587Val)	CUZD1, FAM24B-CUZD1 (I587V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3270362	NM_022034.6(CUZD1):c.1703G>A (p.Ser568Asn)	CUZD1, FAM24B-CUZD1 (S568N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3079071	NM_022034.6(CUZD1):c.1522C>T (p.His508Tyr)	CUZD1, FAM24B-CUZD1 (H508Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3079070	NM_022034.6(CUZD1):c.1414C>T (p.Pro472Ser)	CUZD1, FAM24B-CUZD1 (P472S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2329545	NM_022034.6(CUZD1):c.1377G>C (p.Lys459Asn)	CUZD1, FAM24B-CUZD1 (K459N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2466284	NM_022034.6(CUZD1):c.1337C>A (p.Pro446His)	CUZD1, FAM24B-CUZD1 (P446H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3079069	NM_022034.6(CUZD1):c.1305G>C (p.Leu435Phe)	CUZD1, FAM24B-CUZD1 (L435F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2494435	NM_022034.6(CUZD1):c.1249G>T (p.Asp417Tyr)	CUZD1, FAM24B-CUZD1 (D417Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2615621	NM_022034.6(CUZD1):c.1231G>C (p.Glu411Gln)	CUZD1, FAM24B-CUZD1 (E411Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3079068	NM_022034.6(CUZD1):c.1191G>A (p.Met397Ile)	CUZD1, FAM24B-CUZD1 (M397I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2216293	NM_022034.6(CUZD1):c.1128A>G (p.Ile376Met)	CUZD1, FAM24B-CUZD1 (I376M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2557852	NM_022034.6(CUZD1):c.1117G>A (p.Val373Met)	CUZD1, FAM24B-CUZD1 (V373M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3079066	NM_022034.6(CUZD1):c.1099A>G (p.Met367Val)	CUZD1, FAM24B-CUZD1 (M367V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2256488	NM_022034.6(CUZD1):c.982A>G (p.Ile328Val)	CUZD1, FAM24B-CUZD1 (I328V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2350985	NM_022034.6(CUZD1):c.958G>A (p.Val320Ile)	CUZD1, FAM24B-CUZD1 (V320I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2369158	NM_022034.6(CUZD1):c.937T>A (p.Ser313Thr)	CUZD1, FAM24B-CUZD1 (S313T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3270361	NM_022034.6(CUZD1):c.850G>A (p.Val284Ile)	CUZD1, FAM24B-CUZD1 (V284I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3270359	NM_022034.6(CUZD1):c.833C>T (p.Ser278Phe)	CUZD1, FAM24B-CUZD1 (S278F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2257937	NM_022034.6(CUZD1):c.821C>A (p.Ser274Tyr)	CUZD1, FAM24B-CUZD1 (S274Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 402577	NM_022034.6(CUZD1):c.818-9del	CUZD1, FAM24B-CUZD1	Deletion (intron variant)	not specified	GBenign
Select item 402576	NM_022034.6(CUZD1):c.818-10_818-9del	CUZD1, FAM24B-CUZD1	Deletion (intron variant)	not specified	GBenign
Select item 3079075	NM_022034.6(CUZD1):c.814A>C (p.Thr272Pro)	CUZD1, FAM24B-CUZD1 (T272P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3079074	NM_022034.6(CUZD1):c.766C>T (p.Arg256Trp)	CUZD1, FAM24B-CUZD1 (R256W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3270360	NM_022034.6(CUZD1):c.709G>A (p.Glu237Lys)	CUZD1, FAM24B-CUZD1 (E237K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2293942	NM_022034.6(CUZD1):c.658A>G (p.Thr220Ala)	CUZD1, FAM24B-CUZD1 (T220A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2312247	NM_022034.6(CUZD1):c.650G>T (p.Gly217Val)	CUZD1, FAM24B-CUZD1 (G217V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2456120	NM_022034.6(CUZD1):c.608T>G (p.Ile203Arg)	CUZD1, FAM24B-CUZD1 (I203R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3270358	NM_022034.6(CUZD1):c.598T>C (p.Phe200Leu)	CUZD1, FAM24B-CUZD1 (F200L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2640944	NM_022034.6(CUZD1):c.345A>G (p.Val115=)	CUZD1, FAM24B-CUZD1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2591584	NM_022034.6(CUZD1):c.287C>T (p.Thr96Ile)	CUZD1, FAM24B-CUZD1 (T96I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2286008	NM_022034.6(CUZD1):c.242C>T (p.Pro81Leu)	CUZD1, FAM24B-CUZD1 (P81L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3079067	NM_022034.6(CUZD1):c.115G>C (p.Ala39Pro)	CUZD1, FAM24B-CUZD1 (A39P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2570288	NM_022034.6(CUZD1):c.71C>A (p.Ala24Glu)	CUZD1, FAM24B-CUZD1 (A24E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3244922	NC_000010.10:g.(?_122610933)_(124813281_?)dup	ACADSB, ARMS2 +16 more	Duplication	FGFR2-related craniosynostosis	GUncertain significance
Select item 3244863	NC_000010.10:g.(?_122842033)_(124813281_?)del	ACADSB, ARMS2 +15 more	Deletion	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 2422456	NC_000010.10:g.(?_123239371)_(124813281_?)del	ACADSB, ARMS2 +15 more	Deletion	FGFR2-related craniosynostosis	GUncertain significance
Select item 1809395	GRCh37/hg19 10q26.13(chr10:124564735-124638847)x1	CUZD1, FAM24B	Copy number loss	not provided	GUncertain significance
Select item 1807931	GRCh37/hg19 10q26.13(chr10:124252660-125447562)x1	ACADSB, BUB3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 979905	GRCh37/hg19 10q26.13(chr10:124488148-124607872)x1	CUZD1	Copy number loss	not provided	GUncertain significance
Select item 979904	GRCh37/hg19 10q26.13(chr10:124439521-124607872)x1	CUZD1, C10orf120	Copy number loss	not provided	GUncertain significance
Select item 815380	GRCh37/hg19 10q26.13(chr10:123232922-124638514)x3	HTRA1, ARMS2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395627	GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	ABRAXAS2, ACADSB +73 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253890	GRCh37/hg19 10q26.13(chr10:124593422-125010666)x3	HMX2, FAM24A +8 more	Copy number gain	See cases	GUncertain significance
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 253439	GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1	C10orf90, CHST15 +40 more	Copy number loss	See cases	GPathogenic
Select item 219035	GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1	ACADSB, ADAM12 +75 more	Copy number loss	See cases	GPathogenic

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Items: 93