CEP57L1[gene] - ClinVar

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

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC129997076, LOC129997077 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	LINC00222, LINC02526 +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 2364440	NM_001271852.3(CEP57L1):c.16A>G (p.Met6Val)	CEP57L1 (M6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616593	NM_001271852.3(CEP57L1):c.18G>A (p.Met6Ile)	CEP57L1 (M6I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788539	NM_001271852.3(CEP57L1):c.28G>T (p.Val10Leu)	CEP57L1 (V10L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2364866	NM_001271852.3(CEP57L1):c.34A>G (p.Ser12Gly)	CEP57L1 (S12G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364787	NM_001271852.3(CEP57L1):c.56G>A (p.Arg19Lys)	CEP57L1 (R19K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142972	NM_001271852.3(CEP57L1):c.161C>G (p.Ala54Gly)	CEP57L1 (A54G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220275	NM_001271852.3(CEP57L1):c.164T>G (p.Leu55Arg)	CEP57L1 (L55R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606565	NM_001271852.3(CEP57L1):c.197T>A (p.Ile66Asn)	CEP57L1 (I66N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488019	NM_001271852.3(CEP57L1):c.202C>T (p.Arg68Cys)	CEP57L1 (R68C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269634	NM_001271852.3(CEP57L1):c.203G>A (p.Arg68His)	CEP57L1 (R68H)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 792048	NM_001271852.3(CEP57L1):c.393G>A (p.Lys131=)	CEP57L1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2591264	NM_001271852.3(CEP57L1):c.463G>A (p.Ala155Thr)	CEP57L1 (A139T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142974	NM_001271852.3(CEP57L1):c.644A>G (p.Asp215Gly)	CEP57L1 (D199G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543079	NM_001271852.3(CEP57L1):c.652T>C (p.Ser218Pro)	CEP57L1 (S218P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316229	NM_001271852.3(CEP57L1):c.717C>A (p.His239Gln)	CEP57L1 (H239Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718017	NM_001271852.3(CEP57L1):c.810del (p.Phe270fs)	CEP57L1 (F254fs +2 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2408402	NM_001271852.3(CEP57L1):c.810T>A (p.Phe270Leu)	CEP57L1 (F132L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224239	NM_001271852.3(CEP57L1):c.828G>T (p.Arg276Ser)	CEP57L1 (R277S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142975	NM_001271852.3(CEP57L1):c.836G>A (p.Arg279His)	CEP57L1 (R158H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388363	NM_001271852.3(CEP57L1):c.868G>T (p.Val290Leu)	CEP57L1 (V307L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142976	NM_001271852.3(CEP57L1):c.896C>T (p.Pro299Leu)	CEP57L1 (P161L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142977	NM_001271852.3(CEP57L1):c.929C>T (p.Pro310Leu)	CEP57L1 (P310L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595644	NM_001271852.3(CEP57L1):c.931C>T (p.Pro311Ser)	CEP57L1 (P311S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2545392	NM_001271852.3(CEP57L1):c.976C>T (p.Leu326Phe)	CEP57L1 (L188F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142970	NM_001271852.3(CEP57L1):c.1089A>C (p.Glu363Asp)	CEP57L1 (E364D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608815	NM_001271852.3(CEP57L1):c.1096T>C (p.Cys366Arg)	CEP57L1 (C366R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142971	NM_001271852.3(CEP57L1):c.1116A>T (p.Glu372Asp)	CEP57L1 (E234D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289973	NM_001271852.3(CEP57L1):c.1187A>G (p.Gln396Arg)	CEP57L1 (Q413R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326388	NM_001271852.3(CEP57L1):c.1251G>C (p.Lys417Asn)	CEP57L1 (K279N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212357	NM_001271852.3(CEP57L1):c.1361A>T (p.Asp454Val)	CEP57L1 (D455V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062942	GRCh37/hg19 6q21(chr6:108992778-110303422)x1	AK9, ARMC2 +10 more	Copy number loss	not specified	GUncertain significance
Select item 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	AFG1L, AK9 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
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 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)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	KLHL32, LIN28B +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	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: 50