CDC123[gene] - ClinVar

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

Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 147372	GRCh38/hg38 10p14-13(chr10:11712990-12319959)x3	CDC123, DHTKD1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2591176	NM_006023.3(CDC123):c.19C>T (p.Leu7Phe)	CDC123 (L7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511507	NM_006023.3(CDC123):c.59G>T (p.Gly20Val)	CDC123 (G20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327504	NM_006023.3(CDC123):c.91C>T (p.Pro31Ser)	CDC123 (P31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534941	NM_006023.3(CDC123):c.171G>T (p.Gln57His)	CDC123 (Q57H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140757	NM_006023.3(CDC123):c.236C>T (p.Thr79Met)	CDC123 (T79M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354205	NM_006023.3(CDC123):c.424C>G (p.Arg142Gly)	CDC123 (R142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140758	NM_006023.3(CDC123):c.425G>A (p.Arg142His)	CDC123 (R142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495220	NM_006023.3(CDC123):c.476G>A (p.Cys159Tyr)	CDC123 (C159Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770762	NM_006023.3(CDC123):c.489+3A>C	CDC123	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2411098	NM_006023.3(CDC123):c.629G>T (p.Arg210Leu)	CDC123 (R210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140759	NM_006023.3(CDC123):c.701T>C (p.Ile234Thr)	CDC123 (I234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354220	NM_006023.3(CDC123):c.721A>G (p.Lys241Glu)	CDC123 (K241E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529376	NM_006023.3(CDC123):c.795A>G (p.Ile265Met)	CDC123 (I265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140760	NM_006023.3(CDC123):c.835G>A (p.Ala279Thr)	CDC123 (A279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779930	NM_006023.3(CDC123):c.847-4A>G	CDC123	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2218144	NM_006023.3(CDC123):c.854C>T (p.Pro285Leu)	CDC123 (P285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684595	GRCh37/hg19 10p14-13(chr10:10175327-13529362)x3	BEND7, CAMK1D +15 more	Copy number gain	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1447308	NC_000010.10:g.(?_12111033)_(13342042_?)dup	CAMK1D, CCDC3 +8 more	Duplication	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 815318	GRCh37/hg19 10p14-13(chr10:12165983-12957560)x3	CCDC3, CAMK1D +3 more	Copy number gain	not provided	GUncertain significance
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 686673	GRCh37/hg19 10p14-13(chr10:11435205-12314999)x1	CDC123, DHTKD1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +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 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	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

Search results

Items: 43