ClinVar for Gene (Select 285753) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266228	NM_001271852.3(CEP57L1):c.166A>G (p.Ile56Val)	CEP57L1 (I56V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266227	NM_001271852.3(CEP57L1):c.29T>C (p.Val10Ala)	CEP57L1 (V10A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266226	NM_001271852.3(CEP57L1):c.349A>G (p.Ile117Val)	CEP57L1 (I117V)	Single nucleotide variant (missense variant +3 more)	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 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 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 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 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 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 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 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 3062942	GRCh37/hg19 6q21(chr6:108992778-110303422)x1	AK9, ARMC2 +10 more	Copy number loss	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 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 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 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 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 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 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 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 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +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 792048	NM_001271852.3(CEP57L1):c.393G>A (p.Lys131=)	CEP57L1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 718017	NM_001271852.3(CEP57L1):c.810del (p.Phe270fs)	CEP57L1 (F254fs +2 more)	Deletion (frameshift variant)	not provided	GLikely benign
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
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +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
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 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 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
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 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 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 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

Types of conflicts

Molecular consequence

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Links from Gene

Items: 54