GRTP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 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
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 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 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	ABHD13, ADPRHL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 155035	GRCh38/hg38 13q34(chr13:110857896-114342258)x1	ADPRHL1, ANKRD10 +179 more	Copy number loss	See cases	GPathogenic
Select item 148303	GRCh38/hg38 13q34(chr13:111118651-114340331)x3	MCF2L, MCF2L-AS1 +158 more	Copy number gain	See cases	GLikely pathogenic
Select item 152704	GRCh38/hg38 13q34(chr13:111200986-114340331)x1	ADPRHL1, ARHGEF7 +149 more	Copy number loss	See cases	GPathogenic
Select item 148895	GRCh38/hg38 13q34(chr13:111355741-114340331)x1	ADPRHL1, ATP11A +143 more	Copy number loss	See cases	GPathogenic
Select item 59927	GRCh38/hg38 13q34(chr13:111439396-114327173)x3	ADPRHL1, ATP11A +141 more	Copy number gain	See cases	GPathogenic
Select item 57714	GRCh38/hg38 13q34(chr13:111541166-113671678)x1	ADPRHL1, ATP11A +83 more	Copy number loss	See cases	GPathogenic
Select item 59929	GRCh38/hg38 13q34(chr13:112292922-113636272)x3	ADPRHL1, ATP11A +68 more	Copy number gain	See cases	GPathogenic
Select item 151063	GRCh38/hg38 13q34(chr13:113321284-113352000)x1	GRTP1, GRTP1-AS1 +1 more	Copy number loss	See cases	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3282916	NM_024719.4(GRTP1):c.625C>T (p.Arg209Trp)	GRTP1 (R209W +1 more)	Single nucleotide variant (missense variant +1 more)	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 58283	GRCh38/hg38 13q34(chr13:113328389-113671476)x3	ADPRHL1, ATP4B +17 more	Copy number gain	See cases	GUncertain significance
Select item 2643984	NM_024719.4(GRTP1):c.466-1144G>T	GRTP1	Single nucleotide variant (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 2643986	NM_024719.4(GRTP1):c.466-1266_466-1259del	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 2643988	NM_024719.4(GRTP1):c.466-1295_466-1294del	GRTP1	Deletion (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 2643990	NM_024719.4(GRTP1):c.466-1543C>T	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 2643992	NM_024719.4(GRTP1):c.466-1567T>C	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 2643994	NM_024719.4(GRTP1):c.466-1640G>A	GRTP1	Single nucleotide variant (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 2643996	NM_024719.4(GRTP1):c.466-1710_466-1709insCG	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 2643999	NM_024719.4(GRTP1):c.466-1714_466-1713insTT	GRTP1	Insertion (intron variant)	not provided	GLikely benign
Select item 2644000	NM_024719.4(GRTP1):c.466-1715C>T	GRTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2644001	NM_024719.4(GRTP1):c.465+2873C>G	GRTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3282922	NM_024719.4(GRTP1):c.439C>T (p.His147Tyr)	GRTP1 (H147Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282917	NM_024719.4(GRTP1):c.419T>C (p.Val140Ala)	GRTP1 (V62A +1 more)	Single nucleotide variant (missense variant)	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 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 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 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 3282920	NM_024719.4(GRTP1):c.367G>A (p.Val123Met)	GRTP1 (V123M +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 3282918	NM_024719.4(GRTP1):c.219C>G (p.His73Gln)	GRTP1, GRTP1-AS1 (H73Q)	Single nucleotide variant (non-coding transcript variant +2 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 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 3282919	NM_024719.4(GRTP1):c.98C>A (p.Ser33Tyr)	GRTP1, LOC124946345 (S33Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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