ClinVar for Gene (Select 8888) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1465

<< First< Prev

Page of 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342181	NM_003906.5(MCM3AP):c.1288T>C (p.Ser430Pro)	MCM3AP (S430P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3293678	NM_003906.5(MCM3AP):c.3827T>C (p.Leu1276Pro)	MCM3AP (L1276P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293677	NM_003906.5(MCM3AP):c.3061G>A (p.Glu1021Lys)	MCM3AP (E1021K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293676	NM_003906.5(MCM3AP):c.3229G>A (p.Asp1077Asn)	MCM3AP (D1077N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293675	NM_003906.5(MCM3AP):c.65T>C (p.Val22Ala)	MCM3AP (V22A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293674	NM_003906.5(MCM3AP):c.962C>A (p.Pro321His)	MCM3AP (P321H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293673	NM_003906.5(MCM3AP):c.382G>A (p.Gly128Arg)	MCM3AP (G128R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293672	NM_003906.5(MCM3AP):c.1061G>A (p.Arg354His)	MCM3AP (R354H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293671	NM_003906.5(MCM3AP):c.3017G>A (p.Gly1006Asp)	MCM3AP (G1006D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293670	NM_003906.5(MCM3AP):c.2588C>G (p.Ser863Cys)	MCM3AP (S863C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293668	NM_003906.5(MCM3AP):c.3296T>C (p.Val1099Ala)	MCM3AP (V1099A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293667	NM_003906.5(MCM3AP):c.4778G>A (p.Arg1593Lys)	MCM3AP, MCM3AP-AS1 (R1593K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293666	NM_003906.5(MCM3AP):c.3451C>T (p.Arg1151Trp)	MCM3AP (R1151W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293665	NM_003906.5(MCM3AP):c.1718A>T (p.Asp573Val)	MCM3AP (D573V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293664	NM_003906.5(MCM3AP):c.3758G>A (p.Arg1253His)	MCM3AP (R1253H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293663	NM_003906.5(MCM3AP):c.869G>T (p.Gly290Val)	MCM3AP (G290V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248201	NC_000021.8:g.(?_45647421)_(47865240_?)dup	ADARB1, AIRE +44 more	Duplication	not provided	GUncertain significance
Select item 3248184	NC_000021.8:g.(?_47699887)_(47700509_?)del	MCM3AP	Deletion	not provided	GPathogenic
Select item 3248183	NC_000021.8:g.(?_47690295)_(47705200_?)del	MCM3AP	Deletion	not provided	GPathogenic
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3148842	GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1	KRTAP10-4, KRTAP10-2 +44 more	Copy number loss	not provided	GUncertain significance
Select item 3124348	NM_003906.5(MCM3AP):c.881A>G (p.Lys294Arg)	MCM3AP (K294R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124347	NM_003906.5(MCM3AP):c.853C>A (p.Pro285Thr)	MCM3AP (P285T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124344	NM_003906.5(MCM3AP):c.635C>T (p.Pro212Leu)	MCM3AP (P212L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124343	NM_003906.5(MCM3AP):c.5651A>G (p.Gln1884Arg)	MCM3AP, MCM3AP-AS1 (Q1884R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124342	NM_003906.5(MCM3AP):c.5619A>C (p.Lys1873Asn)	MCM3AP, MCM3AP-AS1 (K1873N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124341	NM_003906.5(MCM3AP):c.547A>G (p.Ser183Gly)	MCM3AP (S183G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124340	NM_003906.5(MCM3AP):c.5206G>A (p.Val1736Ile)	MCM3AP, MCM3AP-AS1 (V1736I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124339	NM_003906.5(MCM3AP):c.4982T>G (p.Leu1661Arg)	MCM3AP, MCM3AP-AS1 (L1661R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124338	NM_003906.5(MCM3AP):c.4826T>C (p.Ile1609Thr)	MCM3AP, MCM3AP-AS1 (I1609T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124337	NM_003906.5(MCM3AP):c.3899G>A (p.Gly1300Asp)	MCM3AP (G1300D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124336	NM_003906.5(MCM3AP):c.3898G>A (p.Gly1300Ser)	MCM3AP (G1300S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124334	NM_003906.5(MCM3AP):c.377C>G (p.Ala126Gly)	MCM3AP (A126G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124333	NM_003906.5(MCM3AP):c.3168C>A (p.Ser1056Arg)	MCM3AP (S1056R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124332	NM_003906.5(MCM3AP):c.2555T>C (p.Phe852Ser)	MCM3AP (F852S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124331	NM_003906.5(MCM3AP):c.2385C>A (p.Asn795Lys)	MCM3AP (N795K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124329	NM_003906.5(MCM3AP):c.1952C>A (p.Thr651Asn)	MCM3AP (T651N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124328	NM_003906.5(MCM3AP):c.1786A>C (p.Ile596Leu)	MCM3AP (I596L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065076	NM_003906.5(MCM3AP):c.2644C>T (p.Leu882Phe)	MCM3AP (L882F)	Single nucleotide variant (missense variant)	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 3061831	NM_003906.5(MCM3AP):c.5116C>T (p.Leu1706Phe)	MCM3AP, MCM3AP-AS1 (L1706F)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles	GUncertain significance
Select item 3027160	NM_003906.5(MCM3AP):c.5628C>G (p.Asn1876Lys)	MCM3AP, MCM3AP-AS1 (N1876K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023422	NM_003906.5(MCM3AP):c.4136+16C>T	LOC130066871, MCM3AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023367	NM_003906.5(MCM3AP):c.5426+14T>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3021093	NM_003906.5(MCM3AP):c.4818C>T (p.Gly1606=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017053	NM_003906.5(MCM3AP):c.249C>G (p.Pro83=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012666	NM_003906.5(MCM3AP):c.445C>T (p.Leu149=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011241	NM_003906.5(MCM3AP):c.2997del (p.Val1000fs)	MCM3AP (V1000fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3008898	NM_003906.5(MCM3AP):c.2226C>T (p.Pro742=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007388	NM_003906.5(MCM3AP):c.1149T>G (p.Ser383=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006869	NM_003906.5(MCM3AP):c.3430C>T (p.Arg1144Ter)	MCM3AP (R1144*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3003776	NM_003906.5(MCM3AP):c.1269A>G (p.Thr423=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003104	NM_003906.5(MCM3AP):c.4848G>A (p.Leu1616=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002849	NM_003906.5(MCM3AP):c.2196+20T>A	MCM3AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001871	NM_003906.5(MCM3AP):c.5361T>C (p.Asp1787=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3000761	NM_003906.5(MCM3AP):c.528del (p.Phe176fs)	MCM3AP (F176fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3000388	NM_003906.5(MCM3AP):c.813G>A (p.Arg271=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000202	NM_003906.5(MCM3AP):c.5763A>T (p.Thr1921=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999756	NM_003906.5(MCM3AP):c.3753A>G (p.Thr1251=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998802	NM_003906.5(MCM3AP):c.3372T>C (p.Ala1124=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998242	NM_003906.5(MCM3AP):c.1859-9G>A	MCM3AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997530	NM_003906.5(MCM3AP):c.5469C>T (p.Pro1823=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2996179	NM_003906.5(MCM3AP):c.270T>C (p.Thr90=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995651	NM_003906.5(MCM3AP):c.2949C>T (p.Phe983=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995377	NM_003906.5(MCM3AP):c.1710C>T (p.Phe570=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995115	NM_003906.5(MCM3AP):c.2715G>A (p.Val905=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994244	NM_003906.5(MCM3AP):c.4291-14T>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994174	NM_003906.5(MCM3AP):c.2609T>G (p.Leu870Ter)	MCM3AP (L870*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2992162	NM_003906.5(MCM3AP):c.2739_2740del (p.Cys913_Glu914delinsTer)	MCM3AP	Microsatellite (nonsense)	not provided	GPathogenic
Select item 2992042	NM_003906.5(MCM3AP):c.501C>A (p.Thr167=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990607	NM_003906.5(MCM3AP):c.5825C>A (p.Thr1942Lys)	MCM3AP, MCM3AP-AS1 (T1942K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990467	NM_003906.5(MCM3AP):c.1101T>A (p.Val367=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989700	NM_003906.5(MCM3AP):c.3617C>T (p.Ala1206Val)	MCM3AP (A1206V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989420	NM_003906.5(MCM3AP):c.3467+19T>C	MCM3AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988727	NM_003906.5(MCM3AP):c.2197-4C>T	MCM3AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988067	NM_003906.5(MCM3AP):c.2760C>T (p.Leu920=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987986	NM_003906.5(MCM3AP):c.1667+13C>G	MCM3AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987126	NM_003906.5(MCM3AP):c.2864C>T (p.Thr955Ile)	MCM3AP (T955I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986551	NM_003906.5(MCM3AP):c.3213C>T (p.Pro1071=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986347	NM_003906.5(MCM3AP):c.555A>G (p.Ala185=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985964	NM_003906.5(MCM3AP):c.2910A>G (p.Pro970=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985249	NM_003906.5(MCM3AP):c.2193G>T (p.Arg731=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984690	NM_003906.5(MCM3AP):c.3655T>C (p.Leu1219=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981758	NM_003906.5(MCM3AP):c.4794C>T (p.Gly1598=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981154	NM_003906.5(MCM3AP):c.132C>T (p.Thr44=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980077	NM_003906.5(MCM3AP):c.1220-12C>G	MCM3AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979098	NM_003906.5(MCM3AP):c.1724_1725del (p.Ser574_Phe575insTer)	MCM3AP	Deletion (nonsense)	not provided	GPathogenic
Select item 2973936	NM_003906.5(MCM3AP):c.897C>T (p.Arg299=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973889	NM_003906.5(MCM3AP):c.5038+15T>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973127	NM_003906.5(MCM3AP):c.2901C>T (p.Asn967=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972577	NM_003906.5(MCM3AP):c.514G>T (p.Ala172Ser)	MCM3AP (A172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

<< First< Prev

Page of 15