"Invitae"[submitter] AND "GTPBP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1500924	NM_015374.3(SUN2):c.2151C>A (p.His717Gln)	GTPBP1, SUN2 (H687Q +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2133785	NM_015374.3(SUN2):c.2147C>A (p.Ala716Asp)	GTPBP1, SUN2 (A670D +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2727518	NM_015374.3(SUN2):c.2145C>T (p.Pro715=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1055624	NM_015374.3(SUN2):c.2140G>A (p.Glu714Lys)	GTPBP1, SUN2 (E714K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1906711	NM_015374.3(SUN2):c.2122C>T (p.Arg708Cys)	GTPBP1, SUN2 (R575C +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1957485	NM_015374.3(SUN2):c.2104G>A (p.Glu702Lys)	GTPBP1, SUN2 (E538K +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1921929	NM_015374.3(SUN2):c.2104G>C (p.Glu702Gln)	GTPBP1, SUN2 (E656Q +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1612217	NM_015374.3(SUN2):c.2103C>T (p.Pro701=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2193665	NM_015374.3(SUN2):c.2094G>C (p.Trp698Cys)	GTPBP1, SUN2 (W565C +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2728453	NM_015374.3(SUN2):c.2078G>T (p.Arg693Leu)	GTPBP1, SUN2 (R560L +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1445015	NM_015374.3(SUN2):c.2078G>A (p.Arg693Gln)	GTPBP1, SUN2 (R714Q +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 797338	NM_015374.3(SUN2):c.2074C>T (p.Leu692=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1715599	NM_015374.3(SUN2):c.2073G>C (p.Glu691Asp)	GTPBP1, SUN2 (E499D +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1134368	NM_015374.3(SUN2):c.2058G>A (p.Thr686=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 530829	NM_015374.3(SUN2):c.2057C>T (p.Thr686Met)	GTPBP1, SUN2 (T686M +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 566472	NM_015374.3(SUN2):c.2053del (p.Ala685fs)	GTPBP1, SUN2 (A685fs +1 more)	Deletion (frameshift variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2866330	NM_015374.3(SUN2):c.2048C>T (p.Thr683Met)	SUN2, GTPBP1 (T491M +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1944238	NM_015374.3(SUN2):c.2043C>G (p.Ala681=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 745511	NM_015374.3(SUN2):c.2043C>A (p.Ala681=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 838691	NM_015374.3(SUN2):c.2041G>A (p.Ala681Thr)	GTPBP1, SUN2 (A681T +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1907245	NM_015374.3(SUN2):c.2041-16T>C	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2022974	NM_015374.3(SUN2):c.2040+19_2040+21delinsGCGTACCTGGGCAGATGCAGGTACGGGAT	GTPBP1, SUN2 (L687fs)	Indel (frameshift variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2417204	NM_015374.3(SUN2):c.2040+19C>G	GTPBP1, SUN2 (L687V)	Single nucleotide variant (intron variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2050968	NM_015374.3(SUN2):c.2040+5G>A	GTPBP1, SUN2 (R682Q)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1491252	NM_015374.3(SUN2):c.2040+4C>T	GTPBP1, SUN2 (R682W)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 846154	NM_015374.3(SUN2):c.2039A>G (p.Gln680Arg)	GTPBP1, SUN2 (Q680R +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1602290	NM_015374.3(SUN2):c.2034C>T (p.His678=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1439165	NM_015374.3(SUN2):c.2032C>T (p.His678Tyr)	GTPBP1, SUN2 (H486Y +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 777311	NM_015374.3(SUN2):c.2028G>A (p.Thr676=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2309263	NM_015374.3(SUN2):c.2017C>A (p.Pro673Thr)	GTPBP1, SUN2 (P481T +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2912637	NM_015374.3(SUN2):c.2013C>T (p.Gly671=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1168063	NM_015374.3(SUN2):c.2011G>A (p.Gly671Ser)	GTPBP1, SUN2 (G671S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1447692	NM_015374.3(SUN2):c.2002G>A (p.Asp668Asn)	GTPBP1, SUN2 (D683N +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 707803	NM_015374.3(SUN2):c.2001C>T (p.Tyr667=)	SUN2, GTPBP1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 650009	NM_015374.3(SUN2):c.1997C>T (p.Thr666Ile)	GTPBP1, SUN2 (T666I +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1516427	NM_015374.3(SUN2):c.1990A>C (p.Lys664Gln)	GTPBP1, SUN2 (K634Q +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1999476	NM_015374.3(SUN2):c.1972G>A (p.Glu658Lys)	GTPBP1, SUN2 (E466K +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1605821	NM_015374.3(SUN2):c.1948-13G>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 737732	NM_015374.3(SUN2):c.1947+7A>G	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2758720	NM_015374.3(SUN2):c.1940C>T (p.Ala647Val)	GTPBP1, SUN2 (A601V +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1424552	NM_015374.3(SUN2):c.1921A>T (p.Ser641Cys)	GTPBP1, SUN2 (S449C +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 742697	NM_015374.3(SUN2):c.1920C>T (p.Ser640=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 772713	NM_015374.3(SUN2):c.1896C>T (p.Ala632=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 837181	NM_015374.3(SUN2):c.1894G>A (p.Ala632Thr)	GTPBP1, SUN2 (A653T +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 956397	NM_015374.3(SUN2):c.1886T>C (p.Val629Ala)	GTPBP1, SUN2 (V629A +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1039147	NM_015374.3(SUN2):c.1879G>C (p.Glu627Gln)	GTPBP1, SUN2 (E627Q +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 755500	NM_015374.3(SUN2):c.1869C>T (p.Ala623=)	SUN2, GTPBP1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1399348	NM_015374.3(SUN2):c.1859G>A (p.Arg620His)	SUN2, GTPBP1 (R428H +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 461682	NM_015374.3(SUN2):c.1858C>T (p.Arg620Cys)	GTPBP1, SUN2 (R620C +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2748231	NM_015374.3(SUN2):c.1841G>A (p.Arg614His)	GTPBP1, SUN2 (R481H +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2036436	NM_015374.3(SUN2):c.1840C>T (p.Arg614Cys)	GTPBP1, SUN2 (R613C +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2914131	NM_015374.3(SUN2):c.1838T>C (p.Val613Ala)	GTPBP1, SUN2 (V449A +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1398114	NM_015374.3(SUN2):c.1831G>A (p.Ala611Thr)	GTPBP1, SUN2 (A478T +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2156782	NM_015374.3(SUN2):c.1830C>T (p.Phe610=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1470990	NM_015374.3(SUN2):c.1826G>C (p.Gly609Ala)	GTPBP1, SUN2 (G445A +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1170297	NM_015374.3(SUN2):c.1824A>G (p.Gln608=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy +1 more	GBenign
Select item 1060243	NM_015374.3(SUN2):c.1807G>A (p.Ala603Thr)	GTPBP1, SUN2 (A603T +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 461681	NM_015374.3(SUN2):c.1797C>T (p.Gly599=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1358134	NM_015374.3(SUN2):c.1785T>A (p.Asp595Glu)	GTPBP1, SUN2 (D431E +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2730768	NM_015374.3(SUN2):c.1779+17C>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 530846	NM_015374.3(SUN2):c.1779+7A>T	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 654281	NM_015374.3(SUN2):c.1766G>A (p.Arg589Gln)	GTPBP1, SUN2 (R589Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3008954	NM_015374.3(SUN2):c.1765C>T (p.Arg589Ter)	GTPBP1, SUN2 (R588* +9 more)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1484648	NM_015374.3(SUN2):c.1746G>T (p.Trp582Cys)	GTPBP1, SUN2 (W552C +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 771679	NM_015374.3(SUN2):c.1740C>T (p.Pro580=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 2144431	NM_015374.3(SUN2):c.1734C>A (p.Gly578=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 530852	NM_015374.3(SUN2):c.1734C>T (p.Gly578=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 1432268	NM_015374.3(SUN2):c.1732G>A (p.Gly578Ser)	GTPBP1, SUN2 (G414S +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1149436	NM_015374.3(SUN2):c.1716C>T (p.Ala572=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 798680	NM_015374.3(SUN2):c.1713G>A (p.Thr571=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 566584	NM_015374.3(SUN2):c.1712C>T (p.Thr571Met)	GTPBP1, SUN2 (T571M +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2197282	NM_015374.3(SUN2):c.1702G>A (p.Glu568Lys)	GTPBP1, SUN2 (E538K +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 461680	NM_015374.3(SUN2):c.1701C>T (p.Tyr567=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 971269	NM_015374.3(SUN2):c.1691C>G (p.Ser564Cys)	GTPBP1, SUN2 (S564C +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 644029	NM_015374.3(SUN2):c.1684C>T (p.Arg562Ter)	GTPBP1, SUN2 (R583* +1 more)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 530833	NM_015374.3(SUN2):c.1677C>T (p.Ile559=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1929494	NM_015374.3(SUN2):c.1672G>A (p.Val558Ile)	SUN2, GTPBP1 (V579I +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 530838	NM_015374.3(SUN2):c.1671C>T (p.Ser557=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2915153	NM_015374.3(SUN2):c.1664-8T>C	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2193347	NM_015374.3(SUN2):c.1664-11T>C	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2202252	NM_015374.3(SUN2):c.1664-18C>T	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1170622	NM_015374.3(SUN2):c.1663+10C>G	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 3009617	NM_015374.3(SUN2):c.1663+5G>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2053071	NM_015374.3(SUN2):c.1663+4C>G	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1521550	NM_015374.3(SUN2):c.1663+4C>T	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 641394	NM_015374.3(SUN2):c.1645_1648dup (p.Ala550fs)	GTPBP1, SUN2 (A550fs +1 more)	Duplication (frameshift variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2145219	NM_015374.3(SUN2):c.1648G>A (p.Ala550Thr)	GTPBP1, SUN2 (A504T +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 461679	NM_015374.3(SUN2):c.1647C>T (p.Tyr549=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 578809	NM_015374.3(SUN2):c.1633G>A (p.Gly545Arg)	GTPBP1, SUN2 (G545R +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1348951	NM_015374.3(SUN2):c.1613G>A (p.Arg538His)	GTPBP1, SUN2 (R405H +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1482753	NM_015374.3(SUN2):c.1612C>T (p.Arg538Cys)	GTPBP1, SUN2 (R346C +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2996550	NM_015374.3(SUN2):c.1593C>T (p.Ile531=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1599831	NM_015374.3(SUN2):c.1591A>G (p.Ile531Val)	GTPBP1, SUN2 (I339V +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 2869676	NM_015374.3(SUN2):c.1585C>T (p.His529Tyr)	GTPBP1, SUN2 (H396Y +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2824589	NM_015374.3(SUN2):c.1579C>G (p.Gln527Glu)	GTPBP1, SUN2 (Q335E +8 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2169676	NM_015374.3(SUN2):c.1579-16G>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2731714	NM_015374.3(SUN2):c.1562T>C (p.Ile521Thr)	GTPBP1, SUN2 (I357T +8 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 949790	NM_015374.3(SUN2):c.1553A>G (p.Glu518Gly)	GTPBP1, SUN2 (E518G +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 705983	NM_015374.3(SUN2):c.1542G>A (p.Thr514=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 461677	NM_015374.3(SUN2):c.1541C>T (p.Thr514Met)	GTPBP1, SUN2 (T514M +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GLikely benign

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