ClinVar for Gene (Select 54676) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338054	GTPBP2, 2-BP DEL, NT1527	GTPBP2	Deletion	Jaberi-Elahi syndrome	GPathogenic
Select item 3338053	c.1236+1G-A	GTPBP2	Single nucleotide variant	Jaberi-Elahi syndrome	GPathogenic
Select item 3283123	NM_019096.5(GTPBP2):c.1450C>T (p.Arg484Cys)	GTPBP2 (R396C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283122	NM_019096.5(GTPBP2):c.84G>C (p.Arg28Ser)	GTPBP2, LOC129996523 (R28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3234438	NM_019096.5(GTPBP2):c.45C>G (p.Pro15=)	GTPBP2, LOC129996523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103203	NM_019096.5(GTPBP2):c.1594G>A (p.Val532Ile)	GTPBP2 (V444I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068545	NM_019096.5(GTPBP2):c.225G>A (p.Val75=)	GTPBP2	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability	GUncertain significance
Select item 3064362	NM_019096.5(GTPBP2):c.1726G>T (p.Glu576Ter)	GTPBP2 (E488* +1 more)	Single nucleotide variant (nonsense)	Jaberi-Elahi syndrome	GUncertain significance
Select item 3037832	NM_019096.5(GTPBP2):c.21G>A (p.Glu7=)	GTPBP2, LOC129996523	Single nucleotide variant (synonymous variant)	GTPBP2-related disorder	GLikely benign
Select item 3030337	NM_019096.5(GTPBP2):c.60C>T (p.Ala20=)	GTPBP2, LOC129996523	Single nucleotide variant (synonymous variant)	GTPBP2-related disorder	GLikely benign
Select item 3012728	NM_019096.5(GTPBP2):c.1467+14A>G	GTPBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010390	NM_019096.5(GTPBP2):c.1296-19C>T	GTPBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991869	NM_019096.5(GTPBP2):c.540T>C (p.Asn180=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966799	NM_019096.5(GTPBP2):c.186+14A>G	GTPBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959781	NM_019096.5(GTPBP2):c.214-8G>T	GTPBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905635	NM_019096.5(GTPBP2):c.1164T>C (p.Phe388=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840008	NM_019096.5(GTPBP2):c.1326G>T (p.Val442=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839974	NM_019096.5(GTPBP2):c.399-12T>C	GTPBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821993	NM_019096.5(GTPBP2):c.1395C>T (p.Ala465=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785672	NM_019096.5(GTPBP2):c.881-9dup	GTPBP2	Duplication (intron variant)	not provided	GLikely benign
Select item 2768107	NM_019096.5(GTPBP2):c.264A>G (p.Gln88=)	GTPBP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2767269	NM_019096.5(GTPBP2):c.579C>G (p.Thr193=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766112	NM_019096.5(GTPBP2):c.398+7T>A	GTPBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689181	NM_019096.5(GTPBP2):c.1470C>T (p.Gly490=)	GTPBP2	Single nucleotide variant (synonymous variant)	Jaberi-Elahi syndrome	GUncertain significance
Select item 2689180	NM_019096.5(GTPBP2):c.611C>A (p.Ala204Asp)	GTPBP2 (A116D +1 more)	Single nucleotide variant (missense variant)	Jaberi-Elahi syndrome	GUncertain significance
Select item 2656610	NM_019096.5(GTPBP2):c.45C>A (p.Pro15=)	GTPBP2, LOC129996523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2548776	NM_019096.5(GTPBP2):c.1711A>C (p.Lys571Gln)	GTPBP2 (K483Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535199	NM_019096.5(GTPBP2):c.1444T>C (p.Phe482Leu)	GTPBP2 (F394L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529690	NM_019096.5(GTPBP2):c.1799T>C (p.Met600Thr)	GTPBP2 (M600T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520362	NM_019096.5(GTPBP2):c.971C>G (p.Thr324Ser)	GTPBP2 (T324S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472693	NM_019096.5(GTPBP2):c.326A>G (p.Asn109Ser)	GTPBP2 (N109S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432333	NM_019096.5(GTPBP2):c.939C>G (p.Ile313Met)	GTPBP2 (I225M +1 more)	Single nucleotide variant (missense variant)	Jaberi-Elahi syndrome	GUncertain significance
Select item 2427863	NM_019096.5(GTPBP2):c.1629C>G (p.Ala543=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2412595	NM_019096.5(GTPBP2):c.8C>A (p.Ser3Ter)	GTPBP2, LOC129996523 (S3*)	Single nucleotide variant (nonsense)	Jaberi-Elahi syndrome	GPathogenic
Select item 2390053	NM_019096.5(GTPBP2):c.67G>C (p.Gly23Arg)	GTPBP2, LOC129996523 (G23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389924	NM_019096.5(GTPBP2):c.109G>T (p.Gly37Trp)	GTPBP2 (G37W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388559	NM_019096.5(GTPBP2):c.52G>T (p.Gly18Cys)	GTPBP2, LOC129996523 (G18C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388350	NM_019096.5(GTPBP2):c.77A>C (p.Lys26Thr)	GTPBP2, LOC129996523 (K26T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345961	NM_019096.5(GTPBP2):c.359T>C (p.Met120Thr)	GTPBP2 (M120T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336172	NM_019096.5(GTPBP2):c.1546G>A (p.Ala516Thr)	GTPBP2 (A516T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333575	NM_019096.5(GTPBP2):c.1625A>G (p.His542Arg)	GTPBP2 (H542R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300200	NM_019096.5(GTPBP2):c.386G>A (p.Arg129Gln)	GTPBP2 (R129Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280490	NM_019096.5(GTPBP2):c.841G>A (p.Asp281Asn)	GTPBP2 (D193N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269017	NM_019096.5(GTPBP2):c.859G>C (p.Val287Leu)	GTPBP2 (V199L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241616	NM_019096.5(GTPBP2):c.13G>T (p.Val5Leu)	GTPBP2, LOC129996523 (V5L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230916	NM_019096.5(GTPBP2):c.1400G>C (p.Arg467Pro)	GTPBP2 (R379P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201356	NM_019096.5(GTPBP2):c.471C>T (p.Thr157=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192591	NM_019096.5(GTPBP2):c.361C>G (p.Arg121Gly)	GTPBP2 (R33G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2190953	NM_019096.5(GTPBP2):c.1672C>T (p.Arg558Cys)	GTPBP2 (R470C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189852	NM_019096.5(GTPBP2):c.1077C>T (p.Ala359=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186632	NM_019096.5(GTPBP2):c.1003C>T (p.Arg335Trp)	GTPBP2 (R247W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185169	NM_019096.5(GTPBP2):c.1101-3C>T	GTPBP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2183800	NM_019096.5(GTPBP2):c.129G>A (p.Lys43=)	GTPBP2, LOC129996522	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183402	NM_019096.5(GTPBP2):c.1182A>G (p.Pro394=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170973	NM_019096.5(GTPBP2):c.858C>T (p.Leu286=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152543	NM_019096.5(GTPBP2):c.1606G>T (p.Ala536Ser)	GTPBP2 (A448S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2138853	NM_019096.5(GTPBP2):c.1548C>T (p.Ala516=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130342	NM_019096.5(GTPBP2):c.546C>T (p.Asp182=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113099	NM_019096.5(GTPBP2):c.643A>G (p.Ile215Val)	GTPBP2 (I127V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093725	NM_019096.5(GTPBP2):c.1650C>A (p.Gly550=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070934	NM_019096.5(GTPBP2):c.1187C>T (p.Thr396Ile)	GTPBP2 (T396I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067780	NM_019096.5(GTPBP2):c.454A>G (p.Met152Val)	GTPBP2 (M152V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064413	NM_019096.5(GTPBP2):c.1673G>A (p.Arg558His)	GTPBP2 (R470H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2063035	NM_019096.5(GTPBP2):c.1578A>G (p.Thr526=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056968	NM_019096.5(GTPBP2):c.480A>G (p.Leu160=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040729	NM_019096.5(GTPBP2):c.27C>T (p.Phe9=)	GTPBP2, LOC129996523	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2036927	NM_019096.5(GTPBP2):c.1236+10T>G	GTPBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026373	NM_019096.5(GTPBP2):c.1632+3G>A	GTPBP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2022946	NM_019096.5(GTPBP2):c.451G>A (p.Asp151Asn)	GTPBP2 (D151N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018690	NM_019096.5(GTPBP2):c.1434G>A (p.Ala478=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2017976	NM_019096.5(GTPBP2):c.507+17C>T	GTPBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995188	NM_019096.5(GTPBP2):c.532C>T (p.Leu178=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994630	NM_019096.5(GTPBP2):c.589dup (p.Leu197fs)	GTPBP2 (L109fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1989897	NM_019096.5(GTPBP2):c.1146G>C (p.Leu382=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988113	NM_019096.5(GTPBP2):c.881-12C>T	GTPBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957807	NM_019096.5(GTPBP2):c.1609G>C (p.Val537Leu)	GTPBP2 (V537L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953476	NM_019096.5(GTPBP2):c.417C>T (p.Thr139=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949552	NM_019096.5(GTPBP2):c.84G>A (p.Arg28=)	GTPBP2, LOC129996523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946184	NM_019096.5(GTPBP2):c.369G>C (p.Ser123=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938847	NM_019096.5(GTPBP2):c.1468-19G>C	GTPBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922257	NM_019096.5(GTPBP2):c.1509C>T (p.Cys503=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921557	NM_019096.5(GTPBP2):c.1633-7G>A	GTPBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920523	NM_019096.5(GTPBP2):c.214-7C>T	GTPBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919158	NM_019096.5(GTPBP2):c.1295+14C>T	GTPBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916770	NM_019096.5(GTPBP2):c.1605G>A (p.Thr535=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915464	NM_019096.5(GTPBP2):c.1779A>C (p.Ala593=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911029	NM_019096.5(GTPBP2):c.445G>A (p.Asp149Asn)	GTPBP2 (D61N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904121	NM_019096.5(GTPBP2):c.777C>T (p.Ile259=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899760	NM_019096.5(GTPBP2):c.1584C>T (p.His528=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897502	NM_019096.5(GTPBP2):c.300C>T (p.Ala100=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1895613	NM_019096.5(GTPBP2):c.457C>T (p.Pro153Ser)	GTPBP2 (P153S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809270	GRCh37/hg19 6p21.1(chr6:43571555-44154599)x3	CAPN11, GTPBP2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1705264	NM_019096.5(GTPBP2):c.655C>T (p.Arg219Ter)	GTPBP2 (R131*)	Single nucleotide variant (nonsense)	Jaberi-Elahi syndrome	GPathogenic
Select item 1705263	NM_019096.5(GTPBP2):c.1558C>T (p.Arg520Ter)	GTPBP2 (R432*)	Single nucleotide variant (nonsense)	Jaberi-Elahi syndrome	GPathogenic
Select item 1695159	NM_019096.5(GTPBP2):c.93C>T (p.Gly31=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1690687	NM_019096.5(GTPBP2):c.881-18G>A	GTPBP2	Single nucleotide variant (intron variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 1674643	NM_019096.5(GTPBP2):c.516C>T (p.Asp172=)	GTPBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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