CENPH[gene] - ClinVar

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

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 2373181	NM_022909.4(CENPH):c.20T>G (p.Met7Arg)	CENPH, LOC113002589 (M7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265911	NM_022909.4(CENPH):c.114C>G (p.Asp38Glu)	CENPH (D38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142358	NM_022909.4(CENPH):c.140G>C (p.Arg47Thr)	CENPH (R47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225680	NM_022909.4(CENPH):c.142G>A (p.Ala48Thr)	CENPH (A48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142359	NM_022909.4(CENPH):c.205C>T (p.Pro69Ser)	CENPH (P69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142360	NM_022909.4(CENPH):c.233T>A (p.Ile78Asn)	CENPH (I78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397273	NM_022909.4(CENPH):c.245T>G (p.Ile82Ser)	CENPH (I82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386296	NM_022909.4(CENPH):c.383A>G (p.Asp128Gly)	CENPH (D128G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257097	NM_022909.4(CENPH):c.422T>C (p.Met141Thr)	CENPH (M141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265910	NM_022909.4(CENPH):c.476A>G (p.Lys159Arg)	CENPH (K159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142362	NM_022909.4(CENPH):c.486G>T (p.Leu162Phe)	CENPH (L162F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269726	NM_022909.4(CENPH):c.515T>C (p.Leu172Pro)	CENPH (L172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142363	NM_022909.4(CENPH):c.552T>G (p.Ile184Met)	CENPH (I184M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250861	NM_022909.4(CENPH):c.591C>G (p.Ile197Met)	CENPH (I197M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477669	NM_022909.4(CENPH):c.596G>A (p.Arg199Gln)	CENPH (R199Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 812698	NM_022909.4(CENPH):c.635T>C (p.Ile212Thr)	CENPH (I212T)	Single nucleotide variant (missense variant)	Recurrent spontaneous abortion	GUncertain significance
Select item 3265909	NM_022909.4(CENPH):c.706A>G (p.Ile236Val)	CENPH (I236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 1340095	GRCh37/hg19 5q13.1-13.2(chr5:68203539-68641982)x3	CCDC125, CCNB1 +4 more	Copy number gain	not provided	GLikely benign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 617596	GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3	CCDC125, CCNB1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 563075	GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1	CD180, RAD17 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 442841	GRCh37/hg19 5q13.1-13.2(chr5:68313021-68847066)x4	CCDC125, CCNB1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 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: 33