Related gene-specific medical variations for Gene (Select 25777) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323635	NM_015374.3(SUN2):c.1594G>A (p.Val532Met)	GTPBP1, SUN2 (V547M +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323634	NM_015374.3(SUN2):c.937G>A (p.Gly313Arg)	GTPBP1, SUN2 (G149R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323633	NM_015374.3(SUN2):c.2143C>T (p.Pro715Ser)	GTPBP1, SUN2 (P746S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234345	NM_015374.3(SUN2):c.1518A>G (p.Glu506=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234329	NM_015374.3(SUN2):c.1527C>T (p.Ala509=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3172124	NM_015374.3(SUN2):c.955G>T (p.Gly319Cys)	GTPBP1, SUN2 (G155C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172120	NM_015374.3(SUN2):c.1942A>G (p.Ile648Val)	GTPBP1, SUN2 (I484V +9 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172119	NM_015374.3(SUN2):c.1894G>C (p.Ala632Pro)	GTPBP1, SUN2 (A586P +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172118	NM_015374.3(SUN2):c.1870G>A (p.Val624Ile)	GTPBP1, SUN2 (V578I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172117	NM_015374.3(SUN2):c.1840C>A (p.Arg614Ser)	GTPBP1, SUN2 (R422S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172116	NM_015374.3(SUN2):c.1501G>A (p.Gly501Ser)	GTPBP1, SUN2 (G309S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172115	NM_015374.3(SUN2):c.1415G>A (p.Arg472His)	GTPBP1, SUN2 (R493H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3008172	NM_015374.3(SUN2):c.1058C>G (p.Ala353Gly)	GTPBP1, SUN2 (A189G +6 more)	Single nucleotide variant (missense variant +1 more)	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 2994507	NM_015374.3(SUN2):c.1057G>A (p.Ala353Thr)	GTPBP1, SUN2 (A323T +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2969859	NM_015374.3(SUN2):c.1521C>T (p.Ala507=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2919462	NM_015374.3(SUN2):c.929T>C (p.Leu310Pro)	GTPBP1, SUN2 (L325P +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2918008	NM_015374.3(SUN2):c.1485T>C (p.His495=)	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 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 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 2912023	NM_015374.3(SUN2):c.1184G>A (p.Trp395Ter)	GTPBP1, SUN2 (W231* +6 more)	Single nucleotide variant (nonsense +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2895501	NM_015374.3(SUN2):c.823C>T (p.Arg275Cys)	GTPBP1, SUN2 (R275C +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2875255	NM_015374.3(SUN2):c.814-17T>G	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2871478	NM_015374.3(SUN2):c.992T>C (p.Leu331Pro)	GTPBP1, SUN2 (L167P +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
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 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 2863617	NM_015374.3(SUN2):c.1400G>A (p.Arg467Gln)	GTPBP1, SUN2 (R303Q +8 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2827616	NM_015374.3(SUN2):c.1290G>T (p.Leu430=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
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 2816436	NM_015374.3(SUN2):c.1146+15G>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2795152	NM_015374.3(SUN2):c.1190+4C>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2795151	NM_015374.3(SUN2):c.1190+15C>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2762440	NM_015374.3(SUN2):c.1273C>T (p.Leu425=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2761486	NM_015374.3(SUN2):c.1409G>C (p.Gly470Ala)	GTPBP1, SUN2 (G306A +8 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
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 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 2742405	NM_015374.3(SUN2):c.1146+9G>T	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2738373	NM_015374.3(SUN2):c.924G>C (p.Leu308=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
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 2730768	NM_015374.3(SUN2):c.1779+17C>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2729664	NM_015374.3(SUN2):c.920G>A (p.Arg307His)	GTPBP1, SUN2 (R261H +6 more)	Single nucleotide variant (missense variant +1 more)	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 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 2726509	NM_015374.3(SUN2):c.1146+14C>T	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2717364	NM_015374.3(SUN2):c.1114G>T (p.Asp372Tyr)	GTPBP1, SUN2 (D326Y +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2717036	NM_015374.3(SUN2):c.1060C>T (p.Arg354Cys)	GTPBP1, SUN2 (R190C +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2600502	NM_015374.3(SUN2):c.2077C>T (p.Arg693Trp)	GTPBP1, SUN2 (R663W +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493471	NM_015374.3(SUN2):c.1627C>T (p.Arg543Cys)	GTPBP1, SUN2 (R379C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490990	NM_015374.3(SUN2):c.1115A>G (p.Asp372Gly)	GTPBP1, SUN2 (D372G +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	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 2405701	NM_015374.3(SUN2):c.1162A>G (p.Ile388Val)	GTPBP1, SUN2 (I224V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330193	NM_015374.3(SUN2):c.1984C>A (p.Leu662Ile)	GTPBP1, SUN2 (L661I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323053	NM_015374.3(SUN2):c.1016G>T (p.Arg339Leu)	GTPBP1, SUN2 (R309L +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2319394	NM_015374.3(SUN2):c.2114G>C (p.Cys705Ser)	GTPBP1, SUN2 (C513S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309263	NM_015374.3(SUN2):c.2017C>A (p.Pro673Thr)	GTPBP1, SUN2 (P481T +9 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2247242	NM_015374.3(SUN2):c.1957G>A (p.Glu653Lys)	GTPBP1, SUN2 (E623K +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215072	NM_015374.3(SUN2):c.1399C>G (p.Arg467Gly)	GTPBP1, SUN2 (R303G +8 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 2197828	NM_015374.3(SUN2):c.1348C>T (p.Arg450Trp)	GTPBP1, SUN2 (R258W +8 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 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 2193347	NM_015374.3(SUN2):c.1664-11T>C	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2184597	NM_015374.3(SUN2):c.1414C>T (p.Arg472Cys)	GTPBP1, SUN2 (R280C +8 more)	Single nucleotide variant (missense variant)	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 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 2151422	NM_015374.3(SUN2):c.1013G>A (p.Arg338His)	GTPBP1, SUN2 (R292H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2146999	NM_015374.3(SUN2):c.1392C>T (p.Phe464=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
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 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 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 2121134	NM_015374.3(SUN2):c.1435G>C (p.Glu479Gln)	GTPBP1, SUN2 (E346Q +8 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2098435	NM_015374.3(SUN2):c.1251G>C (p.Gln417His)	GTPBP1, SUN2 (Q225H +8 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2098309	NM_015374.3(SUN2):c.1396G>A (p.Ala466Thr)	GTPBP1, SUN2 (A466T +8 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2091979	NM_015374.3(SUN2):c.988G>C (p.Ala330Pro)	GTPBP1, SUN2 (A351P +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2084824	NM_015374.3(SUN2):c.1015C>T (p.Arg339Cys)	GTPBP1, SUN2 (R360C +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2068085	NM_015374.3(SUN2):c.1278G>A (p.Ala426=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
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 2052835	NM_015374.3(SUN2):c.1510G>C (p.Ala504Pro)	GTPBP1, SUN2 (A312P +8 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2052376	NM_015374.3(SUN2):c.1147-11T>C	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2051999	NM_015374.3(SUN2):c.1002G>C (p.Gly334=)	GTPBP1, SUN2	Single nucleotide variant (synonymous 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 2045624	NM_015374.3(SUN2):c.1406G>C (p.Gly469Ala)	GTPBP1, SUN2 (G439A +8 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 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 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 1982596	NM_015374.3(SUN2):c.1338C>T (p.Ile446=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
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 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 1936904	NM_015374.3(SUN2):c.1307C>T (p.Ala436Val)	GTPBP1, SUN2 (A244V +8 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
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 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 1919287	NM_015374.3(SUN2):c.993G>A (p.Leu331=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
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 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 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 1656901	NM_015374.3(SUN2):c.1152C>T (p.Ser384=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 1653783	NM_015374.3(SUN2):c.1344C>T (p.Ala448=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign

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