CDC40[gene] - ClinVar

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

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 151621	GRCh38/hg38 6q21(chr6:109780913-110202309)x1	CDC40, FIG4 +7 more	Copy number loss	See cases	GUncertain significance
Select item 153047	GRCh38/hg38 6q21(chr6:110020558-111200711)x3	AMD1, CDC40 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2325319	NM_015891.3(CDC40):c.4T>G (p.Ser2Ala)	CDC40 (S2A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140838	NM_015891.3(CDC40):c.107C>G (p.Ser36Cys)	CDC40 (S36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526343	NM_015891.3(CDC40):c.328A>T (p.Met110Leu)	CDC40 (M110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514823	NM_015891.3(CDC40):c.499G>A (p.Val167Ile)	CDC40 (V167I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264966	NM_015891.3(CDC40):c.527A>C (p.Glu176Ala)	CDC40 (E176A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223866	NM_015891.3(CDC40):c.536A>G (p.Lys179Arg)	CDC40 (K179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537510	NM_015891.3(CDC40):c.659C>T (p.Thr220Ile)	CDC40 (T220I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604604	NM_015891.3(CDC40):c.664A>G (p.Lys222Glu)	CDC40 (K222E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140841	NM_015891.3(CDC40):c.871G>A (p.Val291Ile)	CDC40 (V291I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1695164	NM_015891.3(CDC40):c.943C>G (p.Leu315Val)	CDC40 (L315V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3341454	NM_015891.3(CDC40):c.964C>T (p.Arg322Trp)	CDC40 (R322W)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 15	GUncertain significance
Select item 2268998	NM_015891.3(CDC40):c.967C>T (p.Arg323Cys)	CDC40 (R323C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526522	NM_015891.3(CDC40):c.1036C>G (p.Gln346Glu)	CDC40 (Q346E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257065	NM_015891.3(CDC40):c.1095G>A (p.Gln365=)	CDC40	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3140839	NM_015891.3(CDC40):c.1396G>A (p.Ala466Thr)	CDC40 (A466T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140840	NM_015891.3(CDC40):c.1441A>G (p.Met481Val)	CDC40 (M481V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1065404	NM_015891.3(CDC40):c.1505T>G (p.Phe502Cys)	CDC40 (F502C)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia +1 more	GPathogenic/Likely pathogenic
Select item 2322031	NM_015891.3(CDC40):c.1646A>C (p.His549Pro)	CDC40 (H549P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490763	NM_015891.3(CDC40):c.1660A>G (p.Ile554Val)	CDC40 (I554V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 1809212	GRCh37/hg19 6q21(chr6:110504179-110635478)x1	CDC40, METTL24	Copy number loss	not provided	GUncertain significance
Select item 1527277	GRCh37/hg19 6q21-22.1(chr6:110472732-114762836)	AMD1, CCN6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527276	GRCh37/hg19 6q21(chr6:109564793-112223595)	AK9, AMD1 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1048615	GRCh37/hg19 6q21(chr6:109796301-113083437)x3	AK9, AMD1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 980218	GRCh37/hg19 6q21(chr6:110288308-110768384)x3	DDO, GPR6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 816620	GRCh37/hg19 6q21(chr6:109564694-112232351)x1	GPR6, METTL24 +21 more	Copy number loss	not provided	GUncertain significance
Select item 563218	GRCh37/hg19 6q21(chr6:110419878-111698827)x1	SLC22A16, REV3L +10 more	Copy number loss	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 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: 46