ClinVar for Gene (Select 11113) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369349	NM_001206999.2(CIT):c.1276G>C (p.Gly426Arg)	CIT (G426R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342096	NM_001206999.2(CIT):c.6108C>G (p.Pro2036=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341630	NM_001206999.2(CIT):c.387G>A (p.Lys129=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341311	NM_001206999.2(CIT):c.905C>A (p.Pro302His)	CIT (P302H)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive	GUncertain significance
Select item 3339825	NM_001206999.2(CIT):c.1808C>T (p.Ala603Val)	CIT (A603V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336860	NM_001206999.2(CIT):c.4355C>T (p.Thr1452Ile)	CIT (T1410I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3267452	NM_001206999.2(CIT):c.4951A>G (p.Thr1651Ala)	CIT (T1609A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267450	NM_001206999.2(CIT):c.5257G>A (p.Val1753Ile)	CIT (V1753I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267449	NM_001206999.2(CIT):c.692G>T (p.Arg231Leu)	CIT (R231L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267448	NM_001206999.2(CIT):c.3217G>T (p.Ala1073Ser)	CIT (A1031S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267447	NM_001206999.2(CIT):c.3823C>T (p.Pro1275Ser)	CIT (P1275S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267446	NM_001206999.2(CIT):c.6140G>A (p.Arg2047Gln)	CIT (R2047Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267445	NM_001206999.2(CIT):c.4142G>A (p.Arg1381His)	CIT (R1339H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267444	NM_001206999.2(CIT):c.3865G>T (p.Asp1289Tyr)	CIT (D1289Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3234970	NM_001206999.2(CIT):c.1555C>T (p.Arg519Ter)	CIT (R519*)	Single nucleotide variant (nonsense)	Microcephaly 17, primary, autosomal recessive	GLikely pathogenic
Select item 3145163	NM_001206999.2(CIT):c.925G>A (p.Ala309Thr)	CIT (A309T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3145162	NM_001206999.2(CIT):c.5980G>C (p.Glu1994Gln)	CIT (E1952Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145160	NM_001206999.2(CIT):c.5627A>G (p.Tyr1876Cys)	CIT (Y1834C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145159	NM_001206999.2(CIT):c.5538C>A (p.Phe1846Leu)	CIT (F1846L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145157	NM_001206999.2(CIT):c.4391C>T (p.Thr1464Ile)	CIT (T1422I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145155	NM_001206999.2(CIT):c.4159A>C (p.Thr1387Pro)	CIT (T1387P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145154	NM_001206999.2(CIT):c.4021A>G (p.Thr1341Ala)	CIT (T1299A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145153	NM_001206999.2(CIT):c.3856C>T (p.Arg1286Trp)	CIT (R1286W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145152	NM_001206999.2(CIT):c.3853C>G (p.Arg1285Gly)	CIT (R1243G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145150	NM_001206999.2(CIT):c.3353C>T (p.Ala1118Val)	CIT (A1076V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145149	NM_001206999.2(CIT):c.3098T>C (p.Val1033Ala)	CIT (V1033A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145148	NM_001206999.2(CIT):c.298A>G (p.Arg100Gly)	CIT (R100G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3145147	NM_001206999.2(CIT):c.2429A>C (p.Asn810Thr)	CIT (N768T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145146	NM_001206999.2(CIT):c.2356A>G (p.Asn786Asp)	CIT (N744D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145145	NM_001206999.2(CIT):c.1958C>T (p.Thr653Met)	CIT (T653M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145144	NM_001206999.2(CIT):c.167T>C (p.Phe56Ser)	CIT, LOC126861657 (F56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145143	NM_001206999.2(CIT):c.1631A>G (p.Glu544Gly)	CIT (E544G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145142	NM_001206999.2(CIT):c.1574G>A (p.Arg525Gln)	CIT (R525Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145141	NM_001206999.2(CIT):c.142C>G (p.Arg48Gly)	CIT, LOC126861657 (R48G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145140	NM_001206999.2(CIT):c.1364G>A (p.Ser455Asn)	CIT (S455N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058587	NM_001206999.2(CIT):c.5151C>T (p.Pro1717=)	CIT	Single nucleotide variant (synonymous variant)	CIT-related disorder	GLikely benign
Select item 3050055	NM_001206999.2(CIT):c.5409C>A (p.Leu1803=)	CIT	Single nucleotide variant (synonymous variant)	CIT-related disorder	GLikely benign
Select item 3049292	NM_001206999.2(CIT):c.6187-4C>T	CIT	Single nucleotide variant (intron variant)	CIT-related disorder	GLikely benign
Select item 3047701	NM_001206999.2(CIT):c.18T>C (p.Tyr6=)	CIT	Single nucleotide variant (synonymous variant)	CIT-related disorder	GLikely benign
Select item 3046840	NM_001206999.2(CIT):c.4068C>A (p.Ile1356=)	CIT	Single nucleotide variant (synonymous variant)	CIT-related disorder	GLikely benign
Select item 3044265	NM_001206999.2(CIT):c.5916C>T (p.Asn1972=)	CIT	Single nucleotide variant (synonymous variant)	CIT-related disorder	GLikely benign
Select item 3042200	NM_001206999.2(CIT):c.2209-6_2209-5del	CIT	Microsatellite (intron variant)	CIT-related disorder	GLikely benign
Select item 3039941	NM_001206999.2(CIT):c.5613T>G (p.Pro1871=)	CIT	Single nucleotide variant (synonymous variant)	CIT-related disorder	GLikely benign
Select item 3039761	NM_001206999.2(CIT):c.3486+7G>A	CIT	Single nucleotide variant (intron variant)	CIT-related disorder	GLikely benign
Select item 3031222	NM_001206999.2(CIT):c.4131G>A (p.Pro1377=)	CIT	Single nucleotide variant (synonymous variant)	CIT-related disorder	GLikely benign
Select item 3029556	NM_001206999.2(CIT):c.2532-9C>T	CIT	Single nucleotide variant (intron variant)	CIT-related disorder	GLikely benign
Select item 3027018	NM_001206999.2(CIT):c.1210C>T (p.Leu404=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025186	NM_001206999.2(CIT):c.3402A>G (p.Ala1134=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025098	NM_001206999.2(CIT):c.4305C>T (p.Leu1435=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019293	NM_001206999.2(CIT):c.3689A>G (p.Lys1230Arg)	CIT (K1188R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017974	NM_001206999.2(CIT):c.517-1G>C	CIT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3013908	NM_001206999.2(CIT):c.4T>C (p.Leu2=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973788	NM_001206999.2(CIT):c.1230G>A (p.Ser410=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2910765	NM_001206999.2(CIT):c.1295+7G>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903600	NM_001206999.2(CIT):c.5829C>T (p.Asn1943=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897177	NM_001206999.2(CIT):c.2706+9G>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895340	NM_001206999.2(CIT):c.1189del (p.Val397fs)	CIT (V397fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2895032	NM_001206999.2(CIT):c.390G>A (p.Lys130=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890160	NM_001206999.2(CIT):c.292G>A (p.Glu98Lys)	CIT (E98K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879047	NM_001206999.2(CIT):c.5542+16G>T	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877122	NM_001206999.2(CIT):c.1968C>T (p.Thr656=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869761	NM_001206999.2(CIT):c.4436C>T (p.Thr1479Ile)	CIT (T1479I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869723	NM_001206999.2(CIT):c.2304+9A>G	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869600	NM_001206999.2(CIT):c.1942-19T>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869312	NM_001206999.2(CIT):c.4935+20G>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869283	NM_001206999.2(CIT):c.2706+14G>A	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2868109	NM_001206999.2(CIT):c.2707-19C>T	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867583	NM_001206999.2(CIT):c.4936-19C>T	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2867362	NM_001206999.2(CIT):c.1401+12C>T	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866718	NM_001206999.2(CIT):c.210T>A (p.Ile70=)	CIT, LOC126861657	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859398	NM_001206999.2(CIT):c.1665+17G>C	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857896	NM_001206999.2(CIT):c.1111+17T>G	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857696	NM_001206999.2(CIT):c.4003+19C>T	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2857694	NM_001206999.2(CIT):c.6186+16G>A	CIT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2848827	NM_001206999.2(CIT):c.3270C>T (p.Ser1090=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835069	NM_001206999.2(CIT):c.1220C>G (p.Ser407Ter)	CIT (S407*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2834174	NM_001206999.2(CIT):c.4579+14T>G	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818138	NM_001206999.2(CIT):c.2707-12_2707-11insTG	CIT	Insertion (intron variant)	not provided	GLikely benign
Select item 2806202	NM_001206999.2(CIT):c.2366A>G (p.Gln789Arg)	CIT (Q789R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799328	NM_001206999.2(CIT):c.1666-9G>T	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798722	NM_001206999.2(CIT):c.1838C>T (p.Ala613Val)	CIT (A613V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797342	NM_001206999.2(CIT):c.4353C>T (p.Ala1451=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789272	NM_001206999.2(CIT):c.1584G>A (p.Val528=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785576	NM_001206999.2(CIT):c.4530T>C (p.Ile1510=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783585	NM_001206999.2(CIT):c.2829G>A (p.Glu943=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752409	NM_001206999.2(CIT):c.692G>A (p.Arg231His)	CIT (R231H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752408	NM_001206999.2(CIT):c.910G>A (p.Ala304Thr)	CIT (A304T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729387	NM_001206999.2(CIT):c.5071+7G>A	CIT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713440	NM_001206999.2(CIT):c.4272C>T (p.Thr1424=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711908	NM_001206999.2(CIT):c.4158A>G (p.Ser1386=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643393	NM_001206999.2(CIT):c.1245G>C (p.Pro415=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643392	NM_001206999.2(CIT):c.1437G>A (p.Val479=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643391	NM_001206999.2(CIT):c.2420C>T (p.Ala807Val)	CIT (A765V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643390	NM_001206999.2(CIT):c.2784C>T (p.Arg928=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643389	NM_001206999.2(CIT):c.2983C>G (p.Leu995Val)	CIT (L953V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643388	NM_001206999.2(CIT):c.3157-37del	CIT	Deletion (intron variant)	not provided	GLikely benign
Select item 2643387	NM_001206999.2(CIT):c.3978C>T (p.Ile1326=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643386	NM_001206999.2(CIT):c.4111G>A (p.Ala1371Thr)	CIT (A1329T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643385	NM_001206999.2(CIT):c.4764C>T (p.Pro1588=)	CIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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