MAP1B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 3024351	GRCh38/hg38 5q13.2(chr5:71378409-72329454)	BDP1, CARTPT +20 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 153044	GRCh38/hg38 5q13.2(chr5:71915937-72562961)x3	LOC102503427, LOC113002591 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2497919	NM_005909.5(MAP1B):c.-1G>C	MAP1B	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1709358	NM_005909.5(MAP1B):c.14T>G (p.Val5Gly)	MAP1B (V5G)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 9	GUncertain significance
Select item 1699598	NM_005909.5(MAP1B):c.17T>C (p.Val6Ala)	MAP1B (V6A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2597537	NM_005909.5(MAP1B):c.49A>G (p.Ile17Val)	MAP1B (I17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238803	NM_005909.5(MAP1B):c.53C>G (p.Ala18Gly)	MAP1B (A18G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046013	NM_005909.5(MAP1B):c.66G>A (p.Ala22=)	MAP1B	Single nucleotide variant (synonymous variant)	MAP1B-related disorder	GLikely benign
Select item 738238	NM_005909.5(MAP1B):c.96C>T (p.Phe32=)	MAP1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3030137	NM_005909.5(MAP1B):c.102C>T (p.Asp34=)	MAP1B	Single nucleotide variant (synonymous variant)	MAP1B-related disorder	GLikely benign
Select item 2136093	NM_005909.5(MAP1B):c.111C>G (p.Phe37Leu)	MAP1B (F37L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655510	NM_005909.5(MAP1B):c.151C>T (p.His51Tyr)	MAP1B (H51Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2349216	NM_005909.5(MAP1B):c.175A>G (p.Ile59Val)	MAP1B (I59V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2542788	NM_005909.5(MAP1B):c.176T>C (p.Ile59Thr)	MAP1B (I59T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655511	NM_005909.5(MAP1B):c.184+8G>A	MAP1B	Single nucleotide variant (intron variant)	MAP1B-related disorder +1 more	GBenign/Likely benign
Select item 2632852	NM_005909.5(MAP1B):c.191G>A (p.Arg64Gln)	MAP1B (R64Q)	Single nucleotide variant (missense variant)	MAP1B-related disorder	GUncertain significance
Select item 2577696	NM_005909.5(MAP1B):c.193T>A (p.Ser65Thr)	MAP1B (S65T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430982	NM_005909.5(MAP1B):c.196T>G (p.Trp66Gly)	MAP1B (W66G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672180	NM_005909.5(MAP1B):c.235C>T (p.Leu79Phe)	MAP1B (L79F)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 9	GUncertain significance
Select item 2664025	NM_005909.5(MAP1B):c.260_261del (p.Ser87fs)	MAP1B (S87fs)	Microsatellite (frameshift variant)	Periventricular nodular heterotopia 9	GLikely pathogenic
Select item 746404	NM_005909.5(MAP1B):c.315C>T (p.Asp105=)	MAP1B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 710962	NM_005909.5(MAP1B):c.316G>A (p.Val106Ile)	MAP1B (V106I)	Single nucleotide variant (5 prime UTR variant +1 more)	MAP1B-related disorder +1 more	GBenign
Select item 932619	NM_005909.5(MAP1B):c.348del (p.Asp117fs)	MAP1B (D117fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2575873	NM_005909.5(MAP1B):c.369G>C (p.Glu123Asp)	MAP1B (E123D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2689397	NM_005909.5(MAP1B):c.381G>A (p.Met127Ile)	MAP1B (M127I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 751003	NM_005909.5(MAP1B):c.393T>C (p.Ala131=)	MAP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 978168	NM_005909.5(MAP1B):c.397C>G (p.Arg133Gly)	MAP1B (R133G +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1176179	NM_005909.5(MAP1B):c.419C>A (p.Thr140Asn)	MAP1B (T140N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042794	NM_005909.5(MAP1B):c.420C>T (p.Thr140=)	MAP1B	Single nucleotide variant (synonymous variant)	MAP1B-related disorder	GLikely benign
Select item 2255026	NM_005909.5(MAP1B):c.443G>A (p.Gly148Glu)	MAP1B (G22E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692589	NM_005909.5(MAP1B):c.483C>A (p.Asn161Lys)	MAP1B (N161K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801176	NM_005909.5(MAP1B):c.508G>A (p.Glu170Lys)	MAP1B (E170K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776045	NM_005909.5(MAP1B):c.513C>T (p.Ile171=)	MAP1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1695649	NM_005909.5(MAP1B):c.602T>C (p.Leu201Pro)	MAP1B (L201P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714481	NM_005909.5(MAP1B):c.621A>G (p.Gln207=)	MAP1B	Single nucleotide variant (synonymous variant)	MAP1B-related disorder +1 more	GBenign/Likely benign
Select item 3061502	NM_005909.5(MAP1B):c.633T>G (p.Asn211Lys)	MAP1B (N211K +1 more)	Single nucleotide variant (missense variant)	MAP1B-related disorder	GLikely benign
Select item 1803417	NM_005909.5(MAP1B):c.664G>A (p.Glu222Lys)	MAP1B (E222K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027647	NM_005909.5(MAP1B):c.742C>A (p.Pro248Thr)	MAP1B (P122T +1 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 9	GUncertain significance
Select item 762138	NM_005909.5(MAP1B):c.777G>A (p.Lys259=)	MAP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751118	NM_005909.5(MAP1B):c.810C>A (p.Gly270=)	MAP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3122721	NM_005909.5(MAP1B):c.817G>A (p.Ala273Thr)	MAP1B (A273T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 548635	NM_005909.5(MAP1B):c.819del (p.Leu274fs)	MAP1B (L274fs +1 more)	Deletion (frameshift variant)	Periventricular nodular heterotopia	GLikely pathogenic
Select item 3035516	NM_005909.5(MAP1B):c.858C>T (p.Gly286=)	MAP1B	Single nucleotide variant (synonymous variant)	MAP1B-related disorder	GLikely benign
Select item 3024282	NM_005909.5(MAP1B):c.881del (p.Phe294fs)	MAP1B (F168fs +1 more)	Deletion (frameshift variant)	Hearing loss, autosomal dominant 83 +1 more	GPathogenic
Select item 2574245	NM_005909.5(MAP1B):c.895C>T (p.Arg299Ter)	MAP1B (R173* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 548632	NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter)	MAP1B (R303* +1 more)	Single nucleotide variant (nonsense)	Periventricular nodular heterotopia 9 +2 more	GPathogenic/Likely pathogenic
Select item 2662115	NM_005909.5(MAP1B):c.910G>A (p.Val304Met)	MAP1B (V178M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444821	NM_005909.5(MAP1B):c.914A>T (p.Asp305Val)	MAP1B (D179V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706566	NM_005909.5(MAP1B):c.928A>G (p.Thr310Ala)	MAP1B (T184A +1 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 9	GUncertain significance
Select item 2281392	NM_005909.5(MAP1B):c.935T>C (p.Ile312Thr)	MAP1B (I186T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1184989	NM_005909.5(MAP1B):c.976C>T (p.Arg326Trp)	MAP1B (R200W +1 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 9	GUncertain significance
Select item 2441938	NM_005909.5(MAP1B):c.996G>C (p.Glu332Asp)	MAP1B (E206D +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 83 +1 more	GUncertain significance
Select item 1677307	NM_005909.5(MAP1B):c.1002del (p.Glu334fs)	MAP1B (E208fs +1 more)	Deletion (frameshift variant)	Periventricular nodular heterotopia 9	GLikely pathogenic
Select item 3046406	NM_005909.5(MAP1B):c.1049T>A (p.Ile350Asn)	MAP1B (I224N +1 more)	Single nucleotide variant (missense variant)	MAP1B-related disorder	GUncertain significance
Select item 2504362	NM_005909.5(MAP1B):c.1069G>A (p.Val357Ile)	MAP1B (V231I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473556	NM_005909.5(MAP1B):c.1127G>C (p.Arg376Thr)	MAP1B (R250T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399355	NM_005909.5(MAP1B):c.1133T>C (p.Ile378Thr)	MAP1B (I378T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2412848	NM_005909.5(MAP1B):c.1145G>A (p.Cys382Tyr)	MAP1B (C256Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989240	NM_005909.5(MAP1B):c.1179G>A (p.Met393Ile)	MAP1B (M267I +1 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 9	GUncertain significance
Select item 1307967	NM_005909.5(MAP1B):c.1303C>T (p.Gln435Ter)	MAP1B (Q309* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1707863	NM_005909.5(MAP1B):c.1312A>T (p.Met438Leu)	MAP1B (M312L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2332554	NM_005909.5(MAP1B):c.1387A>G (p.Ile463Val)	MAP1B (I337V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747407	NM_005909.5(MAP1B):c.1495C>T (p.Leu499=)	MAP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302029	NM_005909.5(MAP1B):c.1517A>G (p.Lys506Arg)	MAP1B (K506R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230407	NM_005909.5(MAP1B):c.1519C>T (p.His507Tyr)	MAP1B (H507Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723289	NM_005909.5(MAP1B):c.1573G>A (p.Val525Met)	LOC129994023, MAP1B (V399M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3122696	NM_005909.5(MAP1B):c.1582C>T (p.Pro528Ser)	LOC129994023, MAP1B (P402S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433632	NM_005909.5(MAP1B):c.1591A>G (p.Lys531Glu)	LOC129994023, MAP1B (K405E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548633	NM_005909.5(MAP1B):c.1594C>T (p.Gln532Ter)	LOC129994023, MAP1B (Q532* +1 more)	Single nucleotide variant (nonsense)	Periventricular nodular heterotopia 9 +1 more	GPathogenic/Likely pathogenic
Select item 3049795	NM_005909.5(MAP1B):c.1624C>T (p.Arg542Ter)	LOC129994023, MAP1B (R416* +1 more)	Single nucleotide variant (nonsense)	MAP1B-related disorder	GLikely pathogenic
Select item 3122697	NM_005909.5(MAP1B):c.1693A>G (p.Thr565Ala)	MAP1B (T439A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2236420	NM_005909.5(MAP1B):c.1766A>G (p.Lys589Arg)	MAP1B (K463R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789740	NM_005909.5(MAP1B):c.1779A>G (p.Pro593=)	MAP1B	Single nucleotide variant (synonymous variant)	MAP1B-related disorder +1 more	GBenign
Select item 1271364	NM_005909.5(MAP1B):c.1780A>G (p.Ile594Val)	MAP1B (I468V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2635150	NM_005909.5(MAP1B):c.1787C>T (p.Thr596Ile)	MAP1B (T470I +1 more)	Single nucleotide variant (missense variant)	MAP1B-related disorder	GUncertain significance
Select item 2671742	NM_005909.5(MAP1B):c.1808C>A (p.Thr603Asn)	MAP1B (T477N +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 83	GUncertain significance
Select item 2581470	NM_005909.5(MAP1B):c.1844C>T (p.Pro615Leu)	MAP1B (P489L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036062	NM_005909.5(MAP1B):c.1869G>A (p.Lys623=)	MAP1B	Single nucleotide variant (synonymous variant)	MAP1B-related disorder	GLikely benign
Select item 3122698	NM_005909.5(MAP1B):c.1981G>T (p.Ala661Ser)	MAP1B (A535S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2603792	NM_005909.5(MAP1B):c.1988del (p.Lys663fs)	MAP1B (K663fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2663643	NM_005909.5(MAP1B):c.2002C>T (p.Pro668Ser)	MAP1B (P542S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497858	NM_005909.5(MAP1B):c.2006T>C (p.Ile669Thr)	MAP1B (I543T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 777395	NM_005909.5(MAP1B):c.2013G>A (p.Lys671=)	MAP1B	Single nucleotide variant (synonymous variant)	MAP1B-related disorder +1 more	GBenign/Likely benign
Select item 2630990	NM_005909.5(MAP1B):c.2033A>G (p.Glu678Gly)	MAP1B (E552G +1 more)	Single nucleotide variant (missense variant)	MAP1B-related disorder	GUncertain significance
Select item 930211	NM_005909.5(MAP1B):c.2035G>T (p.Glu679Ter)	MAP1B (E679* +1 more)	Single nucleotide variant (nonsense)	Periventricular nodular heterotopia 9	GPathogenic
Select item 2655512	NM_005909.5(MAP1B):c.2045AAG[1] (p.Glu683del)	MAP1B (E557del +1 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2442453	NM_005909.5(MAP1B):c.2110A>T (p.Thr704Ser)	MAP1B (T578S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3122699	NM_005909.5(MAP1B):c.2114C>T (p.Pro705Leu)	MAP1B (P579L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3051915	NM_005909.5(MAP1B):c.2115G>A (p.Pro705=)	MAP1B	Single nucleotide variant (synonymous variant)	MAP1B-related disorder	GLikely benign
Select item 712572	NM_005909.5(MAP1B):c.2129A>G (p.Lys710Arg)	MAP1B (K584R +1 more)	Single nucleotide variant (missense variant)	MAP1B-related disorder +1 more	GBenign
Select item 2496539	NM_005909.5(MAP1B):c.2132A>G (p.Lys711Arg)	MAP1B (K585R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 800720	NM_005909.5(MAP1B):c.2134del (p.Glu712fs)	MAP1B (E586fs +1 more)	Deletion (frameshift variant)	Periventricular nodular heterotopia 9 +4 more	GPathogenic; risk factor
Select item 1308571	NM_005909.5(MAP1B):c.2137G>A (p.Val713Ile)	MAP1B (V587I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722794	NM_005909.5(MAP1B):c.2146G>A (p.Glu716Lys)	MAP1B (E590K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683634	NM_005909.5(MAP1B):c.2151G>T (p.Glu717Asp)	MAP1B (E591D +1 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 9	GUncertain significance
Select item 3122700	NM_005909.5(MAP1B):c.2152A>C (p.Lys718Gln)	MAP1B (K718Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593950	NM_005909.5(MAP1B):c.2216C>T (p.Ala739Val)	MAP1B (A739V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635122	NM_005909.5(MAP1B):c.2251A>T (p.Lys751Ter)	MAP1B (K625* +1 more)	Single nucleotide variant (nonsense)	MAP1B-related disorder	GLikely pathogenic

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