MAP1A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 154715	GRCh38/hg38 15q15.2-15.3(chr15:43298918-43558944)x3	ADAL, LCMT2 +11 more	Copy number gain	See cases	GBenign
Select item 2372656	NM_002373.6(MAP1A):c.10G>A (p.Val4Met)	MAP1A (V4M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463905	NM_002373.6(MAP1A):c.167A>G (p.Asn56Ser)	MAP1A (N56S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122671	NM_002373.6(MAP1A):c.386C>T (p.Ser129Phe)	MAP1A (S367F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262447	NM_002373.6(MAP1A):c.411C>G (p.Phe137Leu)	MAP1A (F375L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317905	NM_002373.6(MAP1A):c.449G>A (p.Arg150Gln)	MAP1A (R150Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278716	NM_002373.6(MAP1A):c.494A>C (p.His165Pro)	MAP1A (H403P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230695	NM_002373.6(MAP1A):c.498A>C (p.Leu166Phe)	MAP1A (L166F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230696	NM_002373.6(MAP1A):c.499A>C (p.Asn167His)	MAP1A (N405H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292913	NM_002373.6(MAP1A):c.517G>A (p.Ala173Thr)	MAP1A (A173T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593073	NM_002373.6(MAP1A):c.770A>G (p.Asn257Ser)	MAP1A (N495S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122694	NM_002373.6(MAP1A):c.851G>A (p.Arg284Gln)	MAP1A (R522Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122695	NM_002373.6(MAP1A):c.869G>A (p.Arg290His)	MAP1A (R528H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292899	NM_002373.6(MAP1A):c.891G>C (p.Lys297Asn)	MAP1A (K297N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409259	NM_002373.6(MAP1A):c.1010G>A (p.Arg337Gln)	MAP1A (R337Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122651	NM_002373.6(MAP1A):c.1013A>G (p.Glu338Gly)	MAP1A (E338G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122652	NM_002373.6(MAP1A):c.1033G>C (p.Ala345Pro)	MAP1A (A345P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622051	NM_002373.6(MAP1A):c.1347G>T (p.Arg449Ser)	MAP1A (R449S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490338	NM_002373.6(MAP1A):c.1442C>T (p.Pro481Leu)	MAP1A (P481L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717737	NM_002373.6(MAP1A):c.1446A>G (p.Gly482=)	MAP1A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2604323	NM_002373.6(MAP1A):c.1477C>T (p.Arg493Cys)	MAP1A (R493C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275747	NM_002373.6(MAP1A):c.1504C>G (p.Pro502Ala)	MAP1A (P502A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122654	NM_002373.6(MAP1A):c.1577C>T (p.Ser526Phe)	MAP1A (S764F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122655	NM_002373.6(MAP1A):c.1619G>T (p.Arg540Leu)	MAP1A (R540L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551676	NM_002373.6(MAP1A):c.1636C>G (p.Leu546Val)	MAP1A (L784V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271439	NM_002373.6(MAP1A):c.1654A>G (p.Thr552Ala)	MAP1A (T790A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689395	NM_002373.6(MAP1A):c.1700G>C (p.Gly567Ala)	MAP1A (G567A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3122656	NM_002373.6(MAP1A):c.1712C>T (p.Thr571Ile)	MAP1A (T571I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302319	NM_002373.6(MAP1A):c.1722G>T (p.Gln574His)	MAP1A (Q812H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122657	NM_002373.6(MAP1A):c.1760A>G (p.Glu587Gly)	MAP1A (E587G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211996	NM_002373.6(MAP1A):c.1765G>T (p.Val589Leu)	MAP1A (V827L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122658	NM_002373.6(MAP1A):c.1772A>G (p.Lys591Arg)	MAP1A (K591R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122659	NM_002373.6(MAP1A):c.1799C>G (p.Pro600Arg)	MAP1A (P600R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312068	NM_002373.6(MAP1A):c.1815C>G (p.Ser605Arg)	MAP1A (S605R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521796	NM_002373.6(MAP1A):c.1872G>C (p.Glu624Asp)	MAP1A (E624D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312333	NM_002373.6(MAP1A):c.1918G>A (p.Ala640Thr)	MAP1A (A878T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208979	NM_002373.6(MAP1A):c.1993C>A (p.His665Asn)	MAP1A (H903N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461392	NM_002373.6(MAP1A):c.2020G>A (p.Ala674Thr)	MAP1A (A674T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508457	NM_002373.6(MAP1A):c.2021C>T (p.Ala674Val)	MAP1A (A912V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253168	NM_002373.6(MAP1A):c.2035G>C (p.Gly679Arg)	MAP1A (G679R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296420	NM_002373.6(MAP1A):c.2050C>T (p.His684Tyr)	MAP1A (H922Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232461	NM_002373.6(MAP1A):c.2083A>G (p.Ser695Gly)	MAP1A (S933G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287622	NM_002373.6(MAP1A):c.2147C>T (p.Ser716Leu)	MAP1A (S716L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122660	NM_002373.6(MAP1A):c.2276C>T (p.Pro759Leu)	MAP1A (P759L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292897	NM_002373.6(MAP1A):c.2285G>A (p.Arg762His)	MAP1A (R762H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 521746	NM_002373.6(MAP1A):c.2293C>T (p.Pro765Ser)	MAP1A (P765S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292895	NM_002373.6(MAP1A):c.2300G>C (p.Arg767Thr)	MAP1A (R1005T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122661	NM_002373.6(MAP1A):c.2303T>G (p.Phe768Cys)	MAP1A (F1006C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600058	NM_002373.6(MAP1A):c.2315C>T (p.Thr772Ile)	MAP1A (T1010I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038052	NM_002373.6(MAP1A):c.2318A>G (p.Tyr773Cys)	MAP1A (Y1011C +1 more)	Single nucleotide variant (missense variant)	MAP1A-related disorder	GLikely benign
Select item 2480251	NM_002373.6(MAP1A):c.2329G>A (p.Gly777Arg)	MAP1A (G1015R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747142	NM_002373.6(MAP1A):c.2349A>T (p.Pro783=)	MAP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327783	NM_002373.6(MAP1A):c.2396G>C (p.Gly799Ala)	MAP1A (G1037A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122662	NM_002373.6(MAP1A):c.2510A>G (p.Lys837Arg)	MAP1A (K1075R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299430	NM_002373.6(MAP1A):c.2564C>A (p.Thr855Lys)	MAP1A (T1093K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281680	NM_002373.6(MAP1A):c.2701C>G (p.Leu901Val)	MAP1A (L1139V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122663	NM_002373.6(MAP1A):c.2731C>T (p.Pro911Ser)	MAP1A (P1149S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226072	NM_002373.6(MAP1A):c.2749G>A (p.Val917Met)	MAP1A (V1155M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122664	NM_002373.6(MAP1A):c.2805G>C (p.Glu935Asp)	MAP1A (E1173D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615689	NM_002373.6(MAP1A):c.2820G>T (p.Glu940Asp)	MAP1A (E940D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122665	NM_002373.6(MAP1A):c.2825A>T (p.Glu942Val)	MAP1A (E1180V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340311	NM_002373.6(MAP1A):c.2980A>G (p.Met994Val)	MAP1A (M1232V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411560	NM_002373.6(MAP1A):c.2992C>T (p.Pro998Ser)	MAP1A (P1236S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239411	NM_002373.6(MAP1A):c.2999C>T (p.Ser1000Phe)	MAP1A (S1238F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391416	NM_002373.6(MAP1A):c.3086C>T (p.Ser1029Phe)	MAP1A (S1029F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525646	NM_002373.6(MAP1A):c.3204G>T (p.Arg1068Ser)	MAP1A (R1306S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045577	NM_002373.6(MAP1A):c.3234C>G (p.Asn1078Lys)	MAP1A (N1078K +1 more)	Single nucleotide variant (missense variant)	MAP1A-related disorder	GLikely benign
Select item 2315770	NM_002373.6(MAP1A):c.3287A>G (p.Lys1096Arg)	MAP1A (K1334R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386537	NM_002373.6(MAP1A):c.3328G>C (p.Gly1110Arg)	MAP1A (G1348R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516896	NM_002373.6(MAP1A):c.3368G>A (p.Arg1123Lys)	MAP1A (R1361K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747143	NM_002373.6(MAP1A):c.3456C>A (p.Ser1152=)	MAP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2323655	NM_002373.6(MAP1A):c.3553C>T (p.Arg1185Cys)	MAP1A (R1423C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335863	NM_002373.6(MAP1A):c.3559C>T (p.Pro1187Ser)	MAP1A (P1425S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 973053	NM_002373.6(MAP1A):c.3571C>G (p.Pro1191Ala)	MAP1A (P1191A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3122666	NM_002373.6(MAP1A):c.3581C>A (p.Thr1194Asn)	MAP1A (T1194N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296584	NM_002373.6(MAP1A):c.3593C>A (p.Ser1198Tyr)	MAP1A (S1436Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122667	NM_002373.6(MAP1A):c.3653C>T (p.Ser1218Phe)	MAP1A (S1456F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122668	NM_002373.6(MAP1A):c.3658G>A (p.Glu1220Lys)	MAP1A (E1458K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233717	NM_002373.6(MAP1A):c.3743A>G (p.His1248Arg)	MAP1A (H1486R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122669	NM_002373.6(MAP1A):c.3815G>A (p.Arg1272Gln)	MAP1A (R1510Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122670	NM_002373.6(MAP1A):c.3868G>T (p.Ala1290Ser)	MAP1A (A1290S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312851	NM_002373.6(MAP1A):c.3871A>T (p.Ser1291Cys)	MAP1A (S1529C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122672	NM_002373.6(MAP1A):c.3920G>A (p.Gly1307Glu)	MAP1A (G1307E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783054	NM_002373.6(MAP1A):c.3933C>T (p.Ser1311=)	MAP1A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3122673	NM_002373.6(MAP1A):c.4085C>T (p.Pro1362Leu)	MAP1A (P1362L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387403	NM_002373.6(MAP1A):c.4132G>A (p.Glu1378Lys)	MAP1A (E1378K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259534	NM_002373.6(MAP1A):c.4145C>G (p.Pro1382Arg)	MAP1A (P1382R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246135	NM_002373.6(MAP1A):c.4145C>T (p.Pro1382Leu)	MAP1A (P1382L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462437	NM_002373.6(MAP1A):c.4222T>G (p.Leu1408Val)	MAP1A (L1408V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550410	NM_002373.6(MAP1A):c.4257C>G (p.Asp1419Glu)	MAP1A (D1419E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219846	NM_002373.6(MAP1A):c.4301A>C (p.Lys1434Thr)	MAP1A (K1672T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218167	NM_002373.6(MAP1A):c.4323G>T (p.Lys1441Asn)	MAP1A (K1679N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122674	NM_002373.6(MAP1A):c.4393G>C (p.Glu1465Gln)	MAP1A (E1703Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292906	NM_002373.6(MAP1A):c.4517T>C (p.Val1506Ala)	MAP1A (V1744A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285178	NM_002373.6(MAP1A):c.4549G>A (p.Glu1517Lys)	MAP1A (E1517K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379201	NM_002373.6(MAP1A):c.4609C>G (p.Gln1537Glu)	MAP1A (Q1775E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122675	NM_002373.6(MAP1A):c.4622A>G (p.Asp1541Gly)	MAP1A (D1541G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733004	NM_002373.6(MAP1A):c.4632A>G (p.Ser1544=)	MAP1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3292905	NM_002373.6(MAP1A):c.4639A>G (p.Lys1547Glu)	MAP1A (K1547E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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