ClinVar for Gene (Select 9567) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338052	GTPBP1, THR208ALA	GTPBP1	Single nucleotide variant	Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1	GPathogenic
Select item 3338051	GTPBP1, GLN555TER	GTPBP1	Single nucleotide variant	Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1	GPathogenic
Select item 3338050	GTPBP1, TYR509TER	GTPBP1	Single nucleotide variant	Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1	GPathogenic
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 3283119	NM_004286.5(GTPBP1):c.1823C>T (p.Ser608Phe)	GTPBP1 (S608F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283118	NM_004286.5(GTPBP1):c.122G>T (p.Gly41Val)	GTPBP1 (G41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283116	NM_004286.5(GTPBP1):c.1807G>A (p.Asp603Asn)	GTPBP1 (D603N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283115	NM_004286.5(GTPBP1):c.1911G>T (p.Gln637His)	GTPBP1 (Q637H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283114	NM_004286.5(GTPBP1):c.1778C>T (p.Ser593Leu)	GTPBP1 (S593L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283113	NM_004286.5(GTPBP1):c.1642C>G (p.Pro548Ala)	GTPBP1 (P548A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283112	NM_004286.5(GTPBP1):c.23C>G (p.Ser8Cys)	GTPBP1 (S8C)	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 3103197	NM_004286.5(GTPBP1):c.59C>A (p.Ala20Asp)	GTPBP1 (A20D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103196	NM_004286.5(GTPBP1):c.467A>G (p.Asn156Ser)	GTPBP1 (N156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103195	NM_004286.5(GTPBP1):c.430G>T (p.Val144Leu)	GTPBP1 (V144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103193	NM_004286.5(GTPBP1):c.1511C>A (p.Thr504Lys)	GTPBP1 (T504K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103192	NM_004286.5(GTPBP1):c.1153C>T (p.Pro385Ser)	GTPBP1 (P385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
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 2685676	GRCh37/hg19 22q13.1(chr22:39040762-39271911)x1	CBX6, CBY1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2614064	NM_004286.5(GTPBP1):c.1247C>T (p.Thr416Ile)	GTPBP1 (T416I)	Single nucleotide variant (missense variant)	not specified	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 2593607	NM_004286.5(GTPBP1):c.1733A>C (p.Asn578Thr)	GTPBP1 (N578T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568825	NM_004286.5(GTPBP1):c.106G>A (p.Ala36Thr)	GTPBP1 (A36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532781	NM_004286.5(GTPBP1):c.1111G>A (p.Glu371Lys)	GTPBP1 (E371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516997	NM_004286.5(GTPBP1):c.1863A>T (p.Glu621Asp)	GTPBP1 (E621D)	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 2467563	NM_004286.5(GTPBP1):c.1868C>T (p.Ser623Phe)	GTPBP1 (S623F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2417204	NM_015374.3(SUN2):c.2040+19C>G	GTPBP1, SUN2 (L687V)	Single nucleotide variant (missense 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 2394990	NM_004286.5(GTPBP1):c.1015G>A (p.Val339Met)	GTPBP1 (V339M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394621	NM_004286.5(GTPBP1):c.124T>G (p.Phe42Val)	GTPBP1 (F42V)	Single nucleotide variant (missense variant)	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)	not specified +1 more	GUncertain significance
Select item 2322623	NM_004286.5(GTPBP1):c.1958G>A (p.Arg653His)	GTPBP1 (R653H)	Single nucleotide variant (missense variant)	not specified	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 2314804	NM_004286.5(GTPBP1):c.660T>G (p.Ser220Arg)	GTPBP1 (S220R)	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)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2287922	NM_004286.5(GTPBP1):c.1565C>G (p.Ala522Gly)	GTPBP1 (A522G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278011	NM_004286.5(GTPBP1):c.239G>A (p.Arg80Gln)	GTPBP1 (R80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270574	NM_004286.5(GTPBP1):c.83C>T (p.Ala28Val)	GTPBP1 (A28V)	Single nucleotide variant (missense variant)	not specified	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 2246896	NM_004286.5(GTPBP1):c.1081C>G (p.Pro361Ala)	GTPBP1 (P361A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235586	NM_004286.5(GTPBP1):c.1513A>C (p.Ile505Leu)	GTPBP1 (I505L)	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

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