ClinVar for Gene (Select 79774) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	GUncertain significance
Select item 3102749	NM_024719.4(GRTP1):c.914T>C (p.Phe305Ser)	GRTP1 (F305S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102748	NM_024719.4(GRTP1):c.815A>C (p.Gln272Pro)	GRTP1 (Q194P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102746	NM_024719.4(GRTP1):c.772G>T (p.Gly258Cys)	GRTP1 (G180C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102745	NM_024719.4(GRTP1):c.695G>A (p.Arg232His)	GRTP1 (R154H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102743	NM_024719.4(GRTP1):c.416A>G (p.Asn139Ser)	GRTP1 (N61S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102742	NM_024719.4(GRTP1):c.325G>A (p.Asp109Asn)	GRTP1, GRTP1-AS1 (D109N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3102741	NM_024719.4(GRTP1):c.306G>C (p.Glu102Asp)	GRTP1, GRTP1-AS1 (E102D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3102740	NM_024719.4(GRTP1):c.277G>A (p.Gly93Ser)	GRTP1, GRTP1-AS1 (G15S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3102739	NM_024719.4(GRTP1):c.122G>T (p.Arg41Leu)	GRTP1, LOC124946345 (R41L)	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 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 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 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	ADPRHL1, ATP11A +21 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2644001	NM_024719.4(GRTP1):c.465+2873C>G	GRTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2644000	NM_024719.4(GRTP1):c.466-1715C>T	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643999	NM_024719.4(GRTP1):c.466-1714_466-1713insTT	GRTP1	Insertion (intron variant)	not provided	GLikely benign
Select item 2643998	NM_024719.4(GRTP1):c.466-1710A>G	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643997	NM_024719.4(GRTP1):c.466-1710A>T	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643996	NM_024719.4(GRTP1):c.466-1710_466-1709insCG	GRTP1	Insertion (intron variant)	not provided	GLikely benign
Select item 2643995	NM_024719.4(GRTP1):c.466-1680A>T	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643994	NM_024719.4(GRTP1):c.466-1640G>A	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643993	NM_024719.4(GRTP1):c.466-1589G>T	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643992	NM_024719.4(GRTP1):c.466-1567T>C	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643991	NM_024719.4(GRTP1):c.466-1559G>T	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643990	NM_024719.4(GRTP1):c.466-1543C>T	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643989	NM_024719.4(GRTP1):c.466-1342G>A	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643988	NM_024719.4(GRTP1):c.466-1295_466-1294del	GRTP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2643987	NM_024719.4(GRTP1):c.466-1282C>G	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643986	NM_024719.4(GRTP1):c.466-1266_466-1259del	GRTP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2643985	NM_024719.4(GRTP1):c.466-1217C>T	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643984	NM_024719.4(GRTP1):c.466-1144G>T	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2617271	NM_024719.4(GRTP1):c.968A>G (p.Lys323Arg)	GRTP1 (K323R)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010152, LOC130010153 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2555832	NM_024719.4(GRTP1):c.878T>C (p.Ile293Thr)	GRTP1 (I215T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546157	NM_024719.4(GRTP1):c.640G>C (p.Ala214Pro)	GRTP1 (A214P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529935	NM_024719.4(GRTP1):c.686T>A (p.Leu229Gln)	GRTP1 (L229Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526787	NM_024719.4(GRTP1):c.662G>A (p.Arg221His)	GRTP1 (R143H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520210	NM_024719.4(GRTP1):c.965C>T (p.Ala322Val)	GRTP1 (A322V)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2507823	NM_024719.4(GRTP1):c.629C>T (p.Ala210Val)	GRTP1 (A132V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480240	NM_024719.4(GRTP1):c.415A>G (p.Asn139Asp)	GRTP1 (N139D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395606	NM_024719.4(GRTP1):c.376C>T (p.Arg126Trp)	GRTP1 (R48W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371898	NM_024719.4(GRTP1):c.613G>C (p.Gly205Arg)	GRTP1 (G127R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367122	NM_024719.4(GRTP1):c.991C>T (p.Arg331Trp)	GRTP1 (R331W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333781	NM_024719.4(GRTP1):c.911C>T (p.Thr304Met)	GRTP1 (T304M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332772	NM_024719.4(GRTP1):c.160G>C (p.Gly54Arg)	GRTP1, LOC124946345 (G54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283079	NM_024719.4(GRTP1):c.74A>C (p.Asp25Ala)	GRTP1, LOC124946345 (D25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260095	NM_024719.4(GRTP1):c.386C>T (p.Thr129Met)	GRTP1 (T129M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249173	NM_024719.4(GRTP1):c.667G>A (p.Gly223Ser)	GRTP1 (G145S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245449	NM_024719.4(GRTP1):c.716T>C (p.Val239Ala)	GRTP1 (V161A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221690	NM_024719.4(GRTP1):c.626G>A (p.Arg209Gln)	GRTP1 (R209Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207539	NM_024719.4(GRTP1):c.864T>G (p.Asp288Glu)	GRTP1 (D210E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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	CCDC169-SOHLH2, CCDC70 +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)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1703542	GRCh37/hg19 13q34(chr13:110428062-115107733)	ADPRHL1, ANKRD10 +35 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	EFNB2, ERCC5 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	DCUN1D2, DNAJC3 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	F10, F7 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	ITGBL1, LAMP1 +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340720	GRCh37/hg19 13q34(chr13:113626234-115107733)x3	ADPRHL1, ATP4B +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
Select item 979996	GRCh37/hg19 13q34(chr13:112069981-115107733)x3	ATP11AUN, UPF3A +23 more	Copy number gain	not provided	GLikely pathogenic
Select item 979994	GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1	DCUN1D2, TMEM255B +42 more	Copy number loss	not provided	GPathogenic
Select item 815627	GRCh37/hg19 13q34(chr13:113990475-114264517)x3	GRTP1, TMCO3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +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 687981	GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3	ADPRHL1, ANKRD10 +36 more	Copy number gain	not provided	GUncertain significance
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 686178	GRCh37/hg19 13q34(chr13:111568865-115107733)x1	ADPRHL1, ARHGEF7 +25 more	Copy number loss	not provided	GPathogenic
Select item 684505	Single allele	ABHD13, ADPRHL1 +40 more	Deletion	not provided	Gnot provided
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	GPathogenic
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564077	GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1	CUL4A, GRTP1 +40 more	Copy number loss	not provided	GPathogenic
Select item 564076	GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3	PCID2, TUBGCP3 +39 more	Copy number gain	not provided	GPathogenic
Select item 564074	GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1	CDC16, MCF2L +36 more	Copy number loss	not provided	GPathogenic

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