MAP10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 151105	GRCh38/hg38 1q42.2(chr1:232404562-233269974)x3	LINC01744, LINC01745 +25 more	Copy number gain	See cases	GLikely benign
Select item 2324661	NM_019090.2(MAP10):c.197T>C (p.Leu66Ser)	MAP10 (L66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122639	NM_019090.2(MAP10):c.255C>G (p.His85Gln)	MAP10 (H85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254688	NM_019090.2(MAP10):c.287G>A (p.Arg96His)	MAP10 (R96H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546421	NM_019090.2(MAP10):c.298G>A (p.Ala100Thr)	MAP10 (A100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393869	NM_019090.2(MAP10):c.341G>T (p.Cys114Phe)	MAP10 (C114F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292887	NM_019090.2(MAP10):c.361G>C (p.Val121Leu)	MAP10 (V121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292888	NM_019090.3(MAP10):c.-23C>G	MAP10	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3122642	NM_019090.3(MAP10):c.-9G>A	MAP10	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2299219	NM_019090.3(MAP10):c.23G>A (p.Arg8Gln)	MAP10 (R8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607540	NM_019090.3(MAP10):c.29T>G (p.Phe10Cys)	MAP10 (F10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122643	NM_019090.3(MAP10):c.39G>C (p.Glu13Asp)	MAP10 (E13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544121	NM_019090.3(MAP10):c.53G>C (p.Trp18Ser)	MAP10 (W18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408881	NM_019090.3(MAP10):c.73C>G (p.Leu25Val)	MAP10 (L25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122644	NM_019090.3(MAP10):c.113A>G (p.Glu38Gly)	MAP10 (E38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122645	NM_019090.3(MAP10):c.163C>G (p.Pro55Ala)	MAP10 (P55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530508	NM_019090.3(MAP10):c.223C>T (p.Pro75Ser)	MAP10 (P75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546166	NM_019090.3(MAP10):c.229G>A (p.Ala77Thr)	MAP10 (A77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246211	NM_019090.3(MAP10):c.241G>A (p.Glu81Lys)	MAP10 (E81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509795	NM_019090.3(MAP10):c.253G>A (p.Gly85Ser)	MAP10 (G85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487655	NM_019090.3(MAP10):c.274G>T (p.Gly92Cys)	MAP10 (G92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122647	NM_019090.3(MAP10):c.332C>T (p.Thr111Ile)	MAP10 (T111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122646	NM_019090.3(MAP10):c.332C>A (p.Thr111Asn)	MAP10 (T111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122648	NM_019090.3(MAP10):c.349C>G (p.Leu117Val)	MAP10 (L117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122649	NM_019090.3(MAP10):c.401C>A (p.Ala134Asp)	MAP10 (A134D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347588	NM_019090.3(MAP10):c.428C>T (p.Ala143Val)	MAP10 (A143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507957	NM_019090.3(MAP10):c.462C>G (p.Cys154Trp)	MAP10 (C154W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292448	NM_019090.3(MAP10):c.599G>A (p.Arg200His)	MAP10 (R200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266323	NM_019090.3(MAP10):c.611G>C (p.Gly204Ala)	MAP10 (G204A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292886	NM_019090.3(MAP10):c.649C>A (p.Gln217Lys)	MAP10 (Q217K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560218	NM_019090.3(MAP10):c.733G>A (p.Asp245Asn)	MAP10 (D245N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399163	NM_019090.3(MAP10):c.904C>T (p.Pro302Ser)	MAP10 (P302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222449	NM_019090.3(MAP10):c.976C>G (p.Gln326Glu)	MAP10 (Q326E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225628	NM_019090.3(MAP10):c.1016A>G (p.Glu339Gly)	MAP10 (E339G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122631	NM_019090.3(MAP10):c.1049G>A (p.Ser350Asn)	MAP10 (S350N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287733	NM_019090.3(MAP10):c.1061A>C (p.His354Pro)	MAP10 (H354P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509958	NM_019090.3(MAP10):c.1063C>A (p.Pro355Thr)	MAP10 (P355T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 783321	NM_019090.3(MAP10):c.1081G>A (p.Glu361Lys)	MAP10 (E503K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2618426	NM_019090.3(MAP10):c.1216T>C (p.Ser406Pro)	MAP10 (S406P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552982	NM_019090.3(MAP10):c.1234C>A (p.Pro412Thr)	MAP10 (P412T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540051	NM_019090.3(MAP10):c.1252C>T (p.His418Tyr)	MAP10 (H418Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122633	NM_019090.3(MAP10):c.1288G>A (p.Glu430Lys)	MAP10 (E430K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789960	NM_019090.3(MAP10):c.1310C>T (p.Ser437Phe)	MAP10 (S579F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2217381	NM_019090.3(MAP10):c.1322C>T (p.Ser441Phe)	MAP10 (S441F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240591	NM_019090.3(MAP10):c.1339G>A (p.Ala447Thr)	MAP10 (A447T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251322	NM_019090.3(MAP10):c.1373A>T (p.Glu458Val)	MAP10 (E458V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292889	NM_019090.3(MAP10):c.1379C>T (p.Ser460Leu)	MAP10 (S460L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385564	NM_019090.3(MAP10):c.1396A>G (p.Lys466Glu)	MAP10 (K466E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374775	NM_019090.3(MAP10):c.1478G>A (p.Gly493Glu)	MAP10 (G493E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292892	NM_019090.3(MAP10):c.1533T>A (p.Asn511Lys)	MAP10 (N511K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380302	NM_019090.3(MAP10):c.1715A>G (p.Asn572Ser)	MAP10 (N572S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594110	NM_019090.3(MAP10):c.1745T>C (p.Val582Ala)	MAP10 (V582A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407661	NM_019090.3(MAP10):c.1753G>A (p.Glu585Lys)	MAP10 (E585K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292890	NM_019090.3(MAP10):c.1763C>G (p.Thr588Arg)	MAP10 (T588R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289534	NM_019090.3(MAP10):c.1826G>T (p.Arg609Ile)	MAP10 (R609I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122635	NM_019090.3(MAP10):c.1978G>A (p.Val660Ile)	MAP10 (V660I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122636	NM_019090.3(MAP10):c.1984A>G (p.Lys662Glu)	MAP10 (K662E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122637	NM_019090.3(MAP10):c.2004G>C (p.Gln668His)	MAP10 (Q668H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484905	NM_019090.3(MAP10):c.2042T>C (p.Ile681Thr)	MAP10 (I681T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122638	NM_019090.3(MAP10):c.2089G>C (p.Glu697Gln)	MAP10 (E697Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303629	NM_019090.3(MAP10):c.2105A>T (p.Asp702Val)	MAP10 (D702V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122640	NM_019090.3(MAP10):c.2156C>T (p.Thr719Ile)	MAP10 (T719I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282313	NM_019090.3(MAP10):c.2192G>C (p.Arg731Thr)	MAP10 (R731T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276096	NM_019090.3(MAP10):c.2233A>G (p.Ser745Gly)	MAP10 (S745G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122641	NM_019090.3(MAP10):c.2404A>G (p.Thr802Ala)	MAP10 (T802A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589833	NM_019090.3(MAP10):c.2519T>C (p.Leu840Ser)	MAP10 (L840S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557027	NM_019090.3(MAP10):c.2543C>T (p.Thr848Ile)	MAP10 (T848I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489145	NM_019090.3(MAP10):c.2584C>T (p.Leu862Phe)	MAP10 (L862F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411986	NM_019090.3(MAP10):c.2617T>C (p.Phe873Leu)	MAP10 (F873L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492442	NM_019090.3(MAP10):c.2672A>G (p.Asp891Gly)	MAP10 (D891G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410227	NM_019090.3(MAP10):c.2713A>G (p.Met905Val)	MAP10 (M905V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1809015	GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1	ACTN2, ARID4B +30 more	Copy number loss	not provided	GUncertain significance
Select item 1809009	GRCh37/hg19 1q42.2-43(chr1:232895447-238787061)x1	ACTN2, ARID4B +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1808086	GRCh37/hg19 1q42.2(chr1:231949332-233142053)x1	DISC1, DISC2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527626	GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)	ACTN2, ARID4B +32 more	Copy number loss	not specified	GPathogenic
Select item 1180519	GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1	SPRTN, TARBP1 +34 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic

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