84705[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 153111	GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1	ANO8, BISPR +46 more	Copy number loss	See cases	GUncertain significance
Select item 1216860	NC_000019.10:g.17334661C>T	LOC130063929, ANO8 +1 more (A4T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1212953	NC_000019.10:g.17334722C>T	ANO8, GTPBP3 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1204960	NC_000019.10:g.17334798T>A	ANO8, GTPBP3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1198647	NC_000019.10:g.17334885G>A	GTPBP3	Single nucleotide variant	not provided	GLikely benign
Select item 3035017	NC_000019.10:g.17335001C>T	GTPBP3	Single nucleotide variant (5 prime UTR variant)	GTPBP3-related disorder	GLikely benign
Select item 3045509	NM_001195422.1(GTPBP3):c.18T>A (p.Thr6=)	GTPBP3	Single nucleotide variant (synonymous variant)	GTPBP3-related disorder	GLikely benign
Select item 1199747	NM_001195422.1(GTPBP3):c.24C>T (p.Pro8=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649538	NM_001195422.1(GTPBP3):c.36T>C (p.Phe12=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046458	NM_001195422.1(GTPBP3):c.43G>C (p.Val15Leu)	GTPBP3 (V15L)	Single nucleotide variant (missense variant)	GTPBP3-related disorder	GLikely benign
Select item 2205535	NM_001195422.1(GTPBP3):c.80C>A (p.Thr27Asn)	GTPBP3 (T27N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1270570	NM_001195422.1(GTPBP3):c.120-522G>A	GTPBP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804851	NM_032620.4(GTPBP3):c.-16C>G	GTPBP3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 488854	NM_032620.4(GTPBP3):c.2T>A (p.Met1Lys)	GTPBP3 (M1K)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1917347	NM_032620.4(GTPBP3):c.7C>T (p.Arg3Trp)	GTPBP3 (R3W)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2254426	NM_032620.4(GTPBP3):c.12del (p.Leu5fs)	GTPBP3 (L5fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2039048	NM_032620.4(GTPBP3):c.8G>A (p.Arg3Gln)	GTPBP3 (R3Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1510774	NM_032620.4(GTPBP3):c.8G>T (p.Arg3Leu)	GTPBP3 (R3L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 373011	NM_032620.4(GTPBP3):c.8G>C (p.Arg3Pro)	GTPBP3 (R3P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2196722	NM_032620.4(GTPBP3):c.10G>A (p.Gly4Arg)	GTPBP3 (G4R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363619	NM_032620.4(GTPBP3):c.11G>T (p.Gly4Val)	GTPBP3 (G4V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1405745	NM_032620.4(GTPBP3):c.17G>A (p.Trp6Ter)	GTPBP3 (W6*)	Single nucleotide variant (nonsense +1 more)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 1713717	NM_032620.4(GTPBP3):c.29C>T (p.Ala10Val)	GTPBP3 (A10V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 180619	NM_032620.4(GTPBP3):c.32_33delinsGTG (p.Gln11fs)	GTPBP3 (Q11fs)	Indel (frameshift variant +1 more)	Combined oxidative phosphorylation defect type 23	GPathogenic
Select item 1495579	NM_032620.4(GTPBP3):c.34G>T (p.Ala12Ser)	GTPBP3 (A12S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1403849	NM_032620.4(GTPBP3):c.35C>A (p.Ala12Glu)	GTPBP3 (A12E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2877810	NM_032620.4(GTPBP3):c.45G>A (p.Gly15=)	GTPBP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1405402	NM_032620.4(GTPBP3):c.53+5G>C	GTPBP3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1370631	NM_032620.4(GTPBP3):c.53+6G>A	GTPBP3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2697265	NM_032620.4(GTPBP3):c.53+10C>G	GTPBP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639019	NM_032620.4(GTPBP3):c.53+15G>A	GTPBP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911659	NM_032620.4(GTPBP3):c.53+17A>G	GTPBP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960336	NM_032620.4(GTPBP3):c.53+18G>A	GTPBP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803654	NM_032620.4(GTPBP3):c.53+18G>T	GTPBP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669491	NM_032620.4(GTPBP3):c.54-157T>C	GTPBP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2783267	NM_032620.4(GTPBP3):c.54-19G>T	GTPBP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066546	NM_032620.4(GTPBP3):c.54-12C>G	GTPBP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722976	NM_032620.4(GTPBP3):c.54-9C>T	GTPBP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2156585	NM_032620.4(GTPBP3):c.54-9C>G	GTPBP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 779805	NM_032620.4(GTPBP3):c.54-6T>C	GTPBP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1538035	NM_032620.4(GTPBP3):c.54-4C>T	GTPBP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1366499	NM_032620.4(GTPBP3):c.61A>T (p.Thr21Ser)	GTPBP3 (T43S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717281	NM_032620.4(GTPBP3):c.62C>T (p.Thr21Met)	GTPBP3 (T21M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618574	NM_032620.4(GTPBP3):c.63G>A (p.Thr21=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911090	NM_032620.4(GTPBP3):c.65G>T (p.Arg22Leu)	GTPBP3 (R22L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473774	NM_032620.4(GTPBP3):c.74G>T (p.Ser25Ile)	GTPBP3 (S25I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958136	NM_032620.4(GTPBP3):c.76G>T (p.Gly26Cys)	GTPBP3 (G48C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062908	NM_032620.4(GTPBP3):c.79G>C (p.Ala27Pro)	GTPBP3 (A49P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503958	NM_032620.4(GTPBP3):c.83C>T (p.Pro28Leu)	GTPBP3 (P50L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1539264	NM_032620.4(GTPBP3):c.84A>G (p.Pro28=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012813	NM_032620.4(GTPBP3):c.85G>C (p.Ala29Pro)	GTPBP3 (A29P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397434	NM_032620.4(GTPBP3):c.86C>T (p.Ala29Val)	GTPBP3 (A29V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 669174	NM_032620.4(GTPBP3):c.93C>T (p.Gly31=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779489	NM_032620.4(GTPBP3):c.97G>A (p.Gly33Ser)	GTPBP3 (G55S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1353957	NM_032620.4(GTPBP3):c.99C>T (p.Gly33=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047236	NM_032620.4(GTPBP3):c.105C>A (p.Thr35=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037084	NM_032620.4(GTPBP3):c.111C>T (p.Phe37=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1582593	NM_032620.4(GTPBP3):c.114_115delinsCT (p.Ala38_Leu39=)	GTPBP3	Indel (synonymous variant)	not provided	GLikely benign
Select item 383499	NM_032620.4(GTPBP3):c.114G>C (p.Ala38=)	GTPBP3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 383500	NM_032620.4(GTPBP3):c.115C>T (p.Leu39=)	GTPBP3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1486695	NM_032620.4(GTPBP3):c.121T>A (p.Ser41Thr)	GTPBP3 (S63T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2522530	NM_032620.4(GTPBP3):c.128A>T (p.Gln43Leu)	GTPBP3 (Q43L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365630	NM_032620.4(GTPBP3):c.133C>T (p.Arg45Cys)	GTPBP3 (R67C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498965	NM_032620.4(GTPBP3):c.136T>G (p.Cys46Gly)	GTPBP3 (C68G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609380	NM_032620.4(GTPBP3):c.138C>T (p.Cys46=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1442866	NM_032620.4(GTPBP3):c.139G>A (p.Gly47Ser)	GTPBP3 (G47S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444495	NM_032620.4(GTPBP3):c.140G>A (p.Gly47Asp)	GTPBP3 (G47D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013373	NM_032620.4(GTPBP3):c.141C>T (p.Gly47=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1579593	NM_032620.4(GTPBP3):c.147A>G (p.Ala49=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 507810	NM_032620.4(GTPBP3):c.150G>T (p.Val50=)	GTPBP3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2727313	NM_032620.4(GTPBP3):c.153C>T (p.Ile51=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1437253	NM_032620.4(GTPBP3):c.155G>C (p.Arg52Pro)	GTPBP3 (R74P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372869	NM_032620.4(GTPBP3):c.155G>A (p.Arg52Gln)	GTPBP3 (R52Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1506662	NM_032620.4(GTPBP3):c.167_178dup (p.Pro56_Gly59dup)	GTPBP3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1402577	NM_032620.4(GTPBP3):c.167_178del (p.Pro56_Gly59del)	GTPBP3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1478115	NM_032620.4(GTPBP3):c.160A>G (p.Ser54Gly)	GTPBP3 (S54G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367340	NM_032620.4(GTPBP3):c.166C>T (p.Pro56Ser)	GTPBP3 (P56S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538212	NM_032620.4(GTPBP3):c.168C>T (p.Pro56=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1467442	NM_032620.4(GTPBP3):c.169G>C (p.Ala57Pro)	GTPBP3 (A57P +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23 +1 more	GUncertain significance
Select item 2297694	NM_032620.4(GTPBP3):c.170C>A (p.Ala57Asp)	GTPBP3 (A79D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1491396	NM_032620.4(GTPBP3):c.175G>A (p.Gly59Ser)	GTPBP3 (G81S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370866	NM_032620.4(GTPBP3):c.178C>T (p.His60Tyr)	GTPBP3 (H60Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066129	NM_032620.4(GTPBP3):c.180C>T (p.His60=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1727255	NM_032620.4(GTPBP3):c.181G>C (p.Ala61Pro)	GTPBP3 (A83P +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1802991	NM_032620.4(GTPBP3):c.187C>T (p.Arg63Ter)	GTPBP3 (R63* +1 more)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 23	GPathogenic
Select item 1031119	NM_032620.4(GTPBP3):c.188G>A (p.Arg63Gln)	GTPBP3 (R85Q +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23	GUncertain significance
Select item 379975	NM_032620.4(GTPBP3):c.198A>C (p.Thr66=)	GTPBP3	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 23 +2 more	GBenign
Select item 1497881	NM_032620.4(GTPBP3):c.202C>T (p.Pro68Ser)	GTPBP3 (P68S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493054	NM_032620.4(GTPBP3):c.203C>G (p.Pro68Arg)	GTPBP3 (P90R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400469	NM_032620.4(GTPBP3):c.205C>G (p.Arg69Gly)	GTPBP3 (R91G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1608087	NM_032620.4(GTPBP3):c.211C>T (p.Leu71=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 693995	NM_032620.4(GTPBP3):c.215C>T (p.Pro72Leu)	GTPBP3 (P94L +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23 +1 more	GUncertain significance
Select item 2195685	NM_032620.4(GTPBP3):c.219T>G (p.Leu73=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 983351	NM_032620.4(GTPBP3):c.221C>A (p.Ala74Asp)	GTPBP3 (A74D +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23	GUncertain significance
Select item 1416501	NM_032620.4(GTPBP3):c.224G>A (p.Arg75His)	GTPBP3 (R97H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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