Related gene-specific medical variations for Gene (Select 8888) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 404

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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-AS1, MCM3AP	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 3003104	NM_003906.5(MCM3AP):c.4848G>A (p.Leu1616=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous 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 3000202	NM_003906.5(MCM3AP):c.5763A>T (p.Thr1921=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997530	NM_003906.5(MCM3AP):c.5469C>T (p.Pro1823=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant +1 more)	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 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 2981758	NM_003906.5(MCM3AP):c.4794C>T (p.Gly1598=)	MCM3AP, MCM3AP-AS1	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 2972479	NM_003906.5(MCM3AP):c.4484C>T (p.Ala1495Val)	MCM3AP, MCM3AP-AS1 (A1495V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970991	NM_003906.5(MCM3AP):c.5136C>T (p.Asn1712=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962900	NM_003906.5(MCM3AP):c.5806C>T (p.Leu1936=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960573	NM_003906.5(MCM3AP):c.5039-9T>C	MCM3AP-AS1, MCM3AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956025	NM_003906.5(MCM3AP):c.4291-12A>G	MCM3AP-AS1, MCM3AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955849	NM_003906.5(MCM3AP):c.4429C>T (p.Leu1477=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955376	NM_003906.5(MCM3AP):c.5358T>C (p.Tyr1786=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2901781	NM_003906.5(MCM3AP):c.5514G>A (p.Glu1838=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2898030	NM_003906.5(MCM3AP):c.5848C>G (p.Leu1950Val)	MCM3AP, MCM3AP-AS1 (L1950V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892287	NM_003906.5(MCM3AP):c.4786C>T (p.Arg1596Cys)	MCM3AP, MCM3AP-AS1 (R1596C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2890599	NM_003906.5(MCM3AP):c.4439T>C (p.Leu1480Ser)	MCM3AP, MCM3AP-AS1 (L1480S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857616	NM_003906.5(MCM3AP):c.4290+9dup	MCM3AP, MCM3AP-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2855161	NM_003906.5(MCM3AP):c.5103G>A (p.Gln1701=)	MCM3AP-AS1, MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847369	NM_003906.5(MCM3AP):c.4677C>T (p.Ser1559=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841828	NM_003906.5(MCM3AP):c.5493T>C (p.Arg1831=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2841786	NM_003906.5(MCM3AP):c.4549+10G>A	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831734	NM_003906.5(MCM3AP):c.5836C>T (p.Leu1946=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830914	NM_003906.5(MCM3AP):c.5629_5630del (p.Lys1877fs)	MCM3AP, MCM3AP-AS1 (K1877fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2825517	NM_003906.5(MCM3AP):c.4296C>T (p.Ala1432=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819008	NM_003906.5(MCM3AP):c.5296+8G>A	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807796	NM_003906.5(MCM3AP):c.4705T>G (p.Cys1569Gly)	MCM3AP, MCM3AP-AS1 (C1569G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807084	NM_003906.5(MCM3AP):c.4291-13G>T	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805495	NM_003906.5(MCM3AP):c.4136+15del	LOC130066871, MCM3AP	Deletion (intron variant)	not provided	GBenign
Select item 2805212	NM_003906.5(MCM3AP):c.4704C>T (p.Cys1568=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800190	NM_003906.5(MCM3AP):c.4425C>T (p.Tyr1475=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799532	NM_003906.5(MCM3AP):c.4461G>T (p.Leu1487=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798830	NM_003906.5(MCM3AP):c.4783A>C (p.Arg1595=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788360	NM_003906.5(MCM3AP):c.5256G>A (p.Lys1752=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783822	NM_003906.5(MCM3AP):c.4137-4G>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2780210	NM_003906.5(MCM3AP):c.5565T>C (p.Ala1855=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2772772	NM_003906.5(MCM3AP):c.5195C>A (p.Ala1732Glu)	MCM3AP, MCM3AP-AS1 (A1732E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770246	NM_003906.5(MCM3AP):c.4275del (p.Asn1426fs)	MCM3AP, MCM3AP-AS1 (N1426fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2769118	NM_003906.5(MCM3AP):c.5397G>A (p.Thr1799=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2767849	NM_003906.5(MCM3AP):c.5460C>T (p.Asn1820=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2766038	NM_003906.5(MCM3AP):c.4524C>T (p.Asp1508=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758012	NM_003906.5(MCM3AP):c.4269T>A (p.Ile1423=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2745593	NM_003906.5(MCM3AP):c.5520T>C (p.Ala1840=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2737010	NM_003906.5(MCM3AP):c.5410C>T (p.Gln1804Ter)	MCM3AP, MCM3AP-AS1 (Q1804*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2717840	NM_003906.5(MCM3AP):c.4453C>T (p.Gln1485Ter)	MCM3AP-AS1, MCM3AP (Q1485*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2713939	NM_003906.5(MCM3AP):c.4431G>T (p.Leu1477=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712142	NM_003906.5(MCM3AP):c.5850A>C (p.Leu1950=)	MCM3AP-AS1, MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705421	NM_003906.5(MCM3AP):c.5697C>T (p.Ser1899=)	MCM3AP-AS1, MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704140	NM_003906.5(MCM3AP):c.5633+12T>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2700763	NM_003906.5(MCM3AP):c.4633C>G (p.Gln1545Glu)	MCM3AP-AS1, MCM3AP (Q1545E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700199	NM_003906.5(MCM3AP):c.5785-13T>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694063	NM_003906.5(MCM3AP):c.4410A>C (p.Ala1470=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693259	NM_003906.5(MCM3AP):c.4638T>C (p.Gly1546=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652818	NM_003906.5(MCM3AP):c.4190A>G (p.Asp1397Gly)	MCM3AP, MCM3AP-AS1 (D1397G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2635763	NM_003906.5(MCM3AP):c.4159del (p.Val1387fs)	MCM3AP, MCM3AP-AS1 (V1387fs)	Deletion (non-coding transcript variant +1 more)	MCM3AP-related disorder	GLikely pathogenic
Select item 2619465	NM_003906.5(MCM3AP):c.4489C>T (p.Pro1497Ser)	MCM3AP, MCM3AP-AS1 (P1497S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596287	NM_003906.5(MCM3AP):c.5234T>C (p.Ile1745Thr)	MCM3AP, MCM3AP-AS1 (I1745T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585468	NM_003906.5(MCM3AP):c.4392G>A (p.Met1464Ile)	MCM3AP, MCM3AP-AS1 (M1464I)	Single nucleotide variant (missense variant)	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	GUncertain significance
Select item 2576048	NM_003906.5(MCM3AP):c.3949_3950insG (p.Asn1317fs)	MCM3AP (N1317fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 2576046	NM_003906.5(MCM3AP):c.2317A>G (p.Lys773Glu)	MCM3AP (K773E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2546962	NM_003906.5(MCM3AP):c.5777G>T (p.Ser1926Ile)	MCM3AP, MCM3AP-AS1 (S1926I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542957	NM_003906.5(MCM3AP):c.4759C>T (p.Arg1587Cys)	MCM3AP, MCM3AP-AS1 (R1587C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475973	NM_003906.5(MCM3AP):c.5615A>G (p.Glu1872Gly)	MCM3AP, MCM3AP-AS1 (E1872G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441919	NM_003906.5(MCM3AP):c.5521C>T (p.Gln1841Ter)	MCM3AP, MCM3AP-AS1 (Q1841*)	Single nucleotide variant (non-coding transcript variant +1 more)	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	GLikely pathogenic
Select item 2433673	NM_003906.5(MCM3AP):c.3684_3695del (p.Ala1229_Thr1232del)	MCM3AP	Deletion (inframe_deletion)	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	GUncertain significance
Select item 2419127	NM_003906.5(MCM3AP):c.5184A>G (p.Pro1728=)	MCM3AP-AS1, MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416378	NM_003906.5(MCM3AP):c.5706C>G (p.Leu1902=)	MCM3AP, MCM3AP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2403997	NM_003906.5(MCM3AP):c.4384C>T (p.Pro1462Ser)	MCM3AP, MCM3AP-AS1 (P1462S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393393	NM_003906.5(MCM3AP):c.5875A>G (p.Ser1959Gly)	MCM3AP, MCM3AP-AS1 (S1959G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327230	NM_003906.5(MCM3AP):c.5291C>T (p.Thr1764Ile)	MCM3AP, MCM3AP-AS1 (T1764I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300038	NM_003906.5(MCM3AP):c.5785-3T>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2192827	NM_003906.5(MCM3AP):c.4685C>T (p.Pro1562Leu)	MCM3AP, MCM3AP-AS1 (P1562L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191062	NM_003906.5(MCM3AP):c.5684C>T (p.Thr1895Met)	MCM3AP-AS1, MCM3AP (T1895M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189999	NM_003906.5(MCM3AP):c.4223C>T (p.Thr1408Met)	MCM3AP-AS1, MCM3AP (T1408M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2188608	NM_003906.5(MCM3AP):c.5357A>G (p.Tyr1786Cys)	MCM3AP, MCM3AP-AS1 (Y1786C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2178618	NM_003906.5(MCM3AP):c.5228A>G (p.Asp1743Gly)	MCM3AP, MCM3AP-AS1 (D1743G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2171351	NM_003906.5(MCM3AP):c.5323T>C (p.Cys1775Arg)	MCM3AP, MCM3AP-AS1 (C1775R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2169624	NM_003906.5(MCM3AP):c.5372C>T (p.Ser1791Leu)	MCM3AP-AS1, MCM3AP (S1791L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2168443	NM_003906.5(MCM3AP):c.5437A>C (p.Lys1813Gln)	MCM3AP-AS1, MCM3AP (K1813Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2166296	NM_003906.5(MCM3AP):c.5512G>C (p.Glu1838Gln)	MCM3AP, MCM3AP-AS1 (E1838Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2163191	NM_003906.5(MCM3AP):c.4420G>A (p.Val1474Met)	MCM3AP-AS1, MCM3AP (V1474M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2157963	NM_003906.5(MCM3AP):c.5041C>T (p.Pro1681Ser)	MCM3AP, MCM3AP-AS1 (P1681S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155227	NM_003906.5(MCM3AP):c.4828G>A (p.Glu1610Lys)	MCM3AP, MCM3AP-AS1 (E1610K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153915	NM_003906.5(MCM3AP):c.4931G>A (p.Ser1644Asn)	MCM3AP, MCM3AP-AS1 (S1644N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

<< First< Prev

Page of 5