GTPBP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	LOC132089385, LOC132089386 +221 more	Copy number loss	See cases	GPathogenic
Select item 149124	GRCh38/hg38 6p21.1(chr6:43537357-43784452)x3	GTPBP2, LOC121132685 +27 more	Copy number gain	See cases	GUncertain significance
Select item 2529690	NM_019096.5(GTPBP2):c.1799T>C (p.Met600Thr)	GTPBP2, POLR1C (M600T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1427683	NM_019096.5(GTPBP2):c.1784A>C (p.Glu595Ala)	GTPBP2, POLR1C (E595A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915464	NM_019096.5(GTPBP2):c.1779A>C (p.Ala593=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1120672	NM_019096.5(GTPBP2):c.1761T>C (p.Asp587=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1423734	NM_019096.5(GTPBP2):c.1757C>G (p.Thr586Ser)	GTPBP2, POLR1C (T586S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1648938	NM_019096.5(GTPBP2):c.1746C>T (p.Ile582=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 789287	NM_019096.5(GTPBP2):c.1743C>T (p.Gly581=)	POLR1C, GTPBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3064362	NM_019096.5(GTPBP2):c.1726G>T (p.Glu576Ter)	GTPBP2, POLR1C (E488* +1 more)	Single nucleotide variant (nonsense +1 more)	Jaberi-Elahi syndrome	GUncertain significance
Select item 1571645	NM_019096.5(GTPBP2):c.1719G>A (p.Leu573=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2548776	NM_019096.5(GTPBP2):c.1711A>C (p.Lys571Gln)	GTPBP2, POLR1C (K483Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1625217	NM_019096.5(GTPBP2):c.1698G>C (p.Leu566=)	POLR1C, GTPBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2064413	NM_019096.5(GTPBP2):c.1673G>A (p.Arg558His)	GTPBP2, POLR1C (R470H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2190953	NM_019096.5(GTPBP2):c.1672C>T (p.Arg558Cys)	GTPBP2, POLR1C (R470C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1365100	NM_019096.5(GTPBP2):c.1667G>A (p.Arg556His)	GTPBP2, POLR1C (R468H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2093725	NM_019096.5(GTPBP2):c.1650C>A (p.Gly550=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1391826	NM_019096.5(GTPBP2):c.1650C>T (p.Gly550=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1921557	NM_019096.5(GTPBP2):c.1633-7G>A	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026373	NM_019096.5(GTPBP2):c.1632+3G>A	POLR1C, GTPBP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2427863	NM_019096.5(GTPBP2):c.1629C>G (p.Ala543=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2333575	NM_019096.5(GTPBP2):c.1625A>G (p.His542Arg)	GTPBP2, POLR1C (H542R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1957807	NM_019096.5(GTPBP2):c.1609G>C (p.Val537Leu)	GTPBP2, POLR1C (V537L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2152543	NM_019096.5(GTPBP2):c.1606G>T (p.Ala536Ser)	GTPBP2, POLR1C (A448S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1916770	NM_019096.5(GTPBP2):c.1605G>A (p.Thr535=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3103203	NM_019096.5(GTPBP2):c.1594G>A (p.Val532Ile)	GTPBP2, POLR1C (V444I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1899760	NM_019096.5(GTPBP2):c.1584C>T (p.His528=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2063035	NM_019096.5(GTPBP2):c.1578A>G (p.Thr526=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1613941	NM_019096.5(GTPBP2):c.1572G>A (p.Gln524=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1705263	NM_019096.5(GTPBP2):c.1558C>T (p.Arg520Ter)	GTPBP2, POLR1C (R432*)	Single nucleotide variant (nonsense +1 more)	Jaberi-Elahi syndrome	GPathogenic
Select item 2138853	NM_019096.5(GTPBP2):c.1548C>T (p.Ala516=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2336172	NM_019096.5(GTPBP2):c.1546G>A (p.Ala516Thr)	GTPBP2, POLR1C (A516T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 974842	NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs)	GTPBP2, POLR1C (E421fs +1 more)	Microsatellite (frameshift variant +1 more)	Jaberi-Elahi syndrome	GLikely pathogenic
Select item 1383131	NM_019096.5(GTPBP2):c.1526A>C (p.Glu509Ala)	GTPBP2, POLR1C (E509A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1484848	NM_019096.5(GTPBP2):c.1512G>A (p.Ser504=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1922257	NM_019096.5(GTPBP2):c.1509C>T (p.Cys503=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2689181	NM_019096.5(GTPBP2):c.1470C>T (p.Gly490=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	Jaberi-Elahi syndrome	GUncertain significance
Select item 1591549	NM_019096.5(GTPBP2):c.1468-14C>T	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1938847	NM_019096.5(GTPBP2):c.1468-19G>C	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181361	NM_019096.5(GTPBP2):c.1467+106AC[2]	GTPBP2, POLR1C	Microsatellite (intron variant)	not provided	GBenign
Select item 3012728	NM_019096.5(GTPBP2):c.1467+14A>G	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2535199	NM_019096.5(GTPBP2):c.1444T>C (p.Phe482Leu)	GTPBP2, POLR1C (F394L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2018690	NM_019096.5(GTPBP2):c.1434G>A (p.Ala478=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1169306	NM_019096.5(GTPBP2):c.1429C>T (p.Leu477=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 544689	NM_019096.5(GTPBP2):c.1408C>T (p.Arg470Ter)	GTPBP2, POLR1C (R470* +1 more)	Single nucleotide variant (nonsense +1 more)	Jaberi-Elahi syndrome	GPathogenic
Select item 1601266	NM_019096.5(GTPBP2):c.1404G>A (p.Val468=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2230916	NM_019096.5(GTPBP2):c.1400G>C (p.Arg467Pro)	POLR1C, GTPBP2 (R379P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2821993	NM_019096.5(GTPBP2):c.1395C>T (p.Ala465=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2840008	NM_019096.5(GTPBP2):c.1326G>T (p.Val442=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010390	NM_019096.5(GTPBP2):c.1296-19C>T	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182025	NM_019096.5(GTPBP2):c.1295+23C>T	POLR1C, GTPBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1919158	NM_019096.5(GTPBP2):c.1295+14C>T	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 544686	NM_019096.5(GTPBP2):c.1237-1G>T	GTPBP2, POLR1C	Single nucleotide variant (intron variant +1 more)	Jaberi-Elahi syndrome	GPathogenic
Select item 2036927	NM_019096.5(GTPBP2):c.1236+10T>G	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 800941	NM_019096.5(GTPBP2):c.1236+1G>A	GTPBP2, POLR1C	Single nucleotide variant (intron variant +1 more)	Jaberi-Elahi syndrome	GLikely pathogenic
Select item 544688	NM_019096.5(GTPBP2):c.1219C>T (p.Gln407Ter)	GTPBP2, POLR1C (Q407* +1 more)	Single nucleotide variant (nonsense +1 more)	Jaberi-Elahi syndrome	GPathogenic
Select item 1572304	NM_019096.5(GTPBP2):c.1206G>A (p.Glu402=)	POLR1C, GTPBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1324518	NM_019096.5(GTPBP2):c.1187_1188insT (p.Asn397fs)	GTPBP2, POLR1C (N309fs +1 more)	Insertion (frameshift variant +1 more)	Jaberi-Elahi syndrome	GLikely pathogenic
Select item 2070934	NM_019096.5(GTPBP2):c.1187C>T (p.Thr396Ile)	GTPBP2, POLR1C (T396I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2183402	NM_019096.5(GTPBP2):c.1182A>G (p.Pro394=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1594121	NM_019096.5(GTPBP2):c.1179G>A (p.Pro393=)	POLR1C, GTPBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905635	NM_019096.5(GTPBP2):c.1164T>C (p.Phe388=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989897	NM_019096.5(GTPBP2):c.1146G>C (p.Leu382=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2185169	NM_019096.5(GTPBP2):c.1101-3C>T	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1268358	NM_019096.5(GTPBP2):c.1101-183_1101-180del	GTPBP2, POLR1C	Deletion (intron variant)	not provided	GBenign
Select item 2189852	NM_019096.5(GTPBP2):c.1077C>T (p.Ala359=)	POLR1C, GTPBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1333277	NM_019096.5(GTPBP2):c.1053_1054del (p.Glu352fs)	GTPBP2, POLR1C (E264fs +1 more)	Deletion (frameshift variant +1 more)	Jaberi-Elahi syndrome	GPathogenic
Select item 2186632	NM_019096.5(GTPBP2):c.1003C>T (p.Arg335Trp)	GTPBP2, POLR1C (R247W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2520362	NM_019096.5(GTPBP2):c.971C>G (p.Thr324Ser)	GTPBP2, POLR1C (T324S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1560525	NM_019096.5(GTPBP2):c.963T>C (p.Cys321=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2432333	NM_019096.5(GTPBP2):c.939C>G (p.Ile313Met)	GTPBP2, POLR1C (I225M +1 more)	Single nucleotide variant (missense variant +1 more)	Jaberi-Elahi syndrome	GUncertain significance
Select item 1622061	NM_019096.5(GTPBP2):c.909G>A (p.Leu303=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2785672	NM_019096.5(GTPBP2):c.881-9dup	GTPBP2, POLR1C	Duplication (intron variant)	not provided	GLikely benign
Select item 1988113	NM_019096.5(GTPBP2):c.881-12C>T	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654623	NM_019096.5(GTPBP2):c.881-17C>T	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1690687	NM_019096.5(GTPBP2):c.881-18G>A	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1615793	NM_019096.5(GTPBP2):c.880+11T>A	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2269017	NM_019096.5(GTPBP2):c.859G>C (p.Val287Leu)	GTPBP2, POLR1C (V199L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2170973	NM_019096.5(GTPBP2):c.858C>T (p.Leu286=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1568329	NM_019096.5(GTPBP2):c.846C>T (p.Cys282=)	POLR1C, GTPBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2280490	NM_019096.5(GTPBP2):c.841G>A (p.Asp281Asn)	GTPBP2, POLR1C (D193N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1904121	NM_019096.5(GTPBP2):c.777C>T (p.Ile259=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1538789	NM_019096.5(GTPBP2):c.705+20C>T	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615560	NM_019096.5(GTPBP2):c.705+9G>A	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1705264	NM_019096.5(GTPBP2):c.655C>T (p.Arg219Ter)	GTPBP2, POLR1C (R131*)	Single nucleotide variant (nonsense +1 more)	Jaberi-Elahi syndrome	GPathogenic
Select item 2113099	NM_019096.5(GTPBP2):c.643A>G (p.Ile215Val)	GTPBP2, POLR1C (I127V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689180	NM_019096.5(GTPBP2):c.611C>A (p.Ala204Asp)	GTPBP2, POLR1C (A116D +1 more)	Single nucleotide variant (missense variant +1 more)	Jaberi-Elahi syndrome	GUncertain significance
Select item 1994630	NM_019096.5(GTPBP2):c.589dup (p.Leu197fs)	GTPBP2, POLR1C (L109fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2767269	NM_019096.5(GTPBP2):c.579C>G (p.Thr193=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1446841	NM_019096.5(GTPBP2):c.547T>G (p.Ser183Ala)	GTPBP2, POLR1C (S95A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2130342	NM_019096.5(GTPBP2):c.546C>T (p.Asp182=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991869	NM_019096.5(GTPBP2):c.540T>C (p.Asn180=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1995188	NM_019096.5(GTPBP2):c.532C>T (p.Leu178=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1468847	NM_019096.5(GTPBP2):c.520C>T (p.Arg174Cys)	GTPBP2, POLR1C (R174C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1674643	NM_019096.5(GTPBP2):c.516C>T (p.Asp172=)	GTPBP2, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2017976	NM_019096.5(GTPBP2):c.507+17C>T	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1575410	NM_019096.5(GTPBP2):c.507+13C>T	GTPBP2, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign

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