ClinVar for Gene (Select 171425) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267952	NM_206808.5(CLYBL):c.898G>C (p.Ala300Pro)	CLYBL, CLYBL-AS3 (A300P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267951	NM_206808.5(CLYBL):c.1000G>A (p.Ala334Thr)	CLYBL, CLYBL-AS3 (A300T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3148881	GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1	ABHD13, ARGLU1 +34 more	Copy number loss	not provided	GPathogenic
Select item 3146192	NM_206808.5(CLYBL):c.959A>T (p.Asp320Val)	CLYBL, CLYBL-AS3 (D320V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146191	NM_206808.5(CLYBL):c.879G>C (p.Trp293Cys)	CLYBL, CLYBL-AS3 (W293C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146190	NM_206808.5(CLYBL):c.791T>C (p.Met264Thr)	CLYBL, CLYBL-AS3 (M230T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146189	NM_206808.5(CLYBL):c.776G>A (p.Arg259Gln)	CLYBL, CLYBL-AS3 (R225Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146188	NM_206808.5(CLYBL):c.623G>A (p.Arg208Gln)	CLYBL-AS3, CLYBL (R174Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146186	NM_206808.5(CLYBL):c.52C>G (p.Leu18Val)	LOC112163637, CLYBL (L18V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146185	NM_206808.5(CLYBL):c.50C>T (p.Ala17Val)	CLYBL, LOC112163637 (A17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146184	NM_206808.5(CLYBL):c.280C>G (p.Leu94Val)	CLYBL, CLYBL-AS3 (L94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146182	NM_206808.5(CLYBL):c.217G>T (p.Asp73Tyr)	CLYBL, CLYBL-AS3 (D73Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	PCCA, POGLUT2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2622493	NM_206808.5(CLYBL):c.656C>A (p.Thr219Asn)	CLYBL, CLYBL-AS3 (T185N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592637	NM_206808.5(CLYBL):c.38C>T (p.Ala13Val)	CLYBL, LOC112163637 (A13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 2554323	NM_206808.5(CLYBL):c.49G>T (p.Ala17Ser)	CLYBL, LOC112163637 (A17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535525	NM_206808.5(CLYBL):c.260G>A (p.Arg87Gln)	CLYBL, CLYBL-AS3 (R87Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481971	NM_206808.5(CLYBL):c.10C>T (p.Arg4Cys)	CLYBL, LOC112163637 (R4C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463120	NM_206808.5(CLYBL):c.31C>G (p.Arg11Gly)	CLYBL, LOC112163637 (R11G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458019	NM_206808.5(CLYBL):c.134G>A (p.Arg45Gln)	CLYBL, CLYBL-AS3 (R45Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2446726	GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3	DZIP1, ERCC5 +35 more	Copy number gain	See cases	GPathogenic
Select item 2425688	NC_000013.10:g.(?_99336978)_(102379160_?)del	CLYBL, DOCK9 +13 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 2422806	NC_000013.10:g.(?_100038233)_(103718599_?)dup	BIVM, BIVM-ERCC5 +18 more	Duplication	not provided	GUncertain significance
Select item 2370143	NM_206808.5(CLYBL):c.787G>A (p.Ala263Thr)	CLYBL, CLYBL-AS3 (A263T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360100	NM_206808.5(CLYBL):c.643A>G (p.Ser215Gly)	CLYBL, CLYBL-AS3 (S215G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345547	NM_206808.5(CLYBL):c.380G>A (p.Arg127Gln)	CLYBL, CLYBL-AS3 (R127Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343833	NM_206808.5(CLYBL):c.995C>T (p.Thr332Met)	CLYBL, CLYBL-AS3 (T298M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325272	NM_206808.5(CLYBL):c.49G>A (p.Ala17Thr)	CLYBL, LOC112163637 (A17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318762	NM_206808.5(CLYBL):c.565G>A (p.Val189Ile)	CLYBL, CLYBL-AS3 (V189I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2267147	NM_206808.5(CLYBL):c.695T>C (p.Ile232Thr)	CLYBL, CLYBL-AS3 (I232T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249333	NM_206808.5(CLYBL):c.601G>A (p.Val201Ile)	CLYBL, CLYBL-AS3 (V167I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240230	NM_206808.5(CLYBL):c.5C>G (p.Ala2Gly)	CLYBL, LOC112163637 (A2G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226354	NM_206808.5(CLYBL):c.407C>G (p.Pro136Arg)	CLYBL, CLYBL-AS3 (P136R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216046	NM_206808.5(CLYBL):c.592G>C (p.Asp198His)	CLYBL, CLYBL-AS3 (D164H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808473	GRCh37/hg19 13q32.3-34(chr13:100334135-110383902)x1	ABHD13, ARGLU1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1808276	GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1	BIVM-ERCC5, CCDC168 +40 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527790	GRCh37/hg19 13q32.1-32.3(chr13:95677119-100521192)	ABCC4, CLDN10 +18 more	Copy number loss	not specified	GUncertain significance
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1275753	NC_000013.10:g.99162946_101376965del	CLYBL, DOCK9 +11 more	Deletion	Lobar holoprosencephaly	GPathogenic
Select item 1077192	Single allele	ITGBL1, LIG4 +58 more	Deletion	Distal monosomy 13q	GPathogenic
Select item 1074668	NC_000013.10:g.(?_92002837)_(103343314_?)del	ABCC4, CLDN10 +41 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 830571	NC_000013.11:g.(?_99385979)_(99986648_?)del	CLYBL, TM9SF2 +3 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 815615	GRCh37/hg19 13q32.3(chr13:100462518-100573513)x1	CLYBL	Copy number loss	not provided	GLikely benign
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815612	GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1	BIVM, BIVM-ERCC5 +33 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564081	GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1	ABCC4, ABHD13 +49 more	Copy number loss	not provided	GPathogenic
Select item 443855	GRCh37/hg19 13q32.3-33.1(chr13:100016737-101862895)x1	CLYBL, GGACT +7 more	Copy number loss	See cases	GPathogenic
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 443022	GRCh37/hg19 13q32.2-33.1(chr13:98607855-104370539)x3	BIVM, BIVM-ERCC5 +26 more	Copy number gain	See cases	GLikely pathogenic
Select item 442938	GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1	ABHD13, ADPRHL1 +77 more	Copy number loss	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 442647	GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1	ABCC4, ABHD13 +86 more	Copy number loss	See cases	GPathogenic
Select item 442644	GRCh37/hg19 13q32.1-33.1(chr13:98158452-101950563)x3	RNF113B, SLC15A1 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 442413	GRCh37/hg19 13q32.3(chr13:99333632-100773336)x1	CLYBL, DOCK9 +8 more	Copy number loss	See cases	GPathogenic
Select item 442311	GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3	TGDS, TM9SF2 +97 more	Copy number gain	See cases	GPathogenic
Select item 441797	GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3	ABCC4, ABHD13 +100 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441737	GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1	ABCC4, ARGLU1 +58 more	Copy number loss	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	ABCC4, ABHD13 +125 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	MIR4500HG, MIR92A1 +102 more	Copy number loss	See cases	GPathogenic
Select item 395197	GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1	ABCC4, CLDN10 +43 more	Copy number loss	See cases	GPathogenic
Select item 395156	GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 394681	GRCh37/hg19 13q32.3(chr13:99910600-100909782)	CLYBL, GPR18 +6 more	Copy number gain	See cases	GUncertain significance
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic

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