MAP1S[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 2619133	NM_018174.6(MAP1S):c.13G>A (p.Ala5Thr)	MAP1S (A5T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342519	NM_018174.6(MAP1S):c.22G>C (p.Gly8Arg)	MAP1S (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249928	NM_018174.6(MAP1S):c.23G>T (p.Gly8Val)	MAP1S (G8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556874	NM_018174.6(MAP1S):c.32C>G (p.Ala11Gly)	MAP1S (A11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122749	NM_018174.6(MAP1S):c.40A>G (p.Ser14Gly)	MAP1S (S14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122750	NM_018174.6(MAP1S):c.95A>T (p.Tyr32Phe)	MAP1S (Y32F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341100	NM_018174.6(MAP1S):c.148G>T (p.Val50Phe)	MAP1S (V24F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122737	NM_018174.6(MAP1S):c.175G>A (p.Val59Ile)	MAP1S (V33I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615514	NM_018174.6(MAP1S):c.181G>C (p.Val61Leu)	MAP1S (V35L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292953	NM_018174.6(MAP1S):c.237C>A (p.His79Gln)	MAP1S (H53Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531205	NM_018174.6(MAP1S):c.241C>T (p.Arg81Cys)	MAP1S (R55C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122745	NM_018174.6(MAP1S):c.260C>T (p.Thr87Ile)	MAP1S (T87I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618858	NM_018174.6(MAP1S):c.265G>A (p.Val89Ile)	MAP1S (V63I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401233	NM_018174.6(MAP1S):c.485C>T (p.Pro162Leu)	MAP1S (P162L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258354	NM_018174.6(MAP1S):c.522C>G (p.Asp174Glu)	MAP1S (D148E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292941	NM_018174.6(MAP1S):c.581G>A (p.Arg194Gln)	MAP1S (R168Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607840	NM_018174.6(MAP1S):c.877C>T (p.Pro293Ser)	MAP1S (P267S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561290	NM_018174.6(MAP1S):c.958G>T (p.Gly320Cys)	MAP1S (G294C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318602	NM_018174.6(MAP1S):c.959G>A (p.Gly320Asp)	MAP1S (G294D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292948	NM_018174.6(MAP1S):c.968A>G (p.Asp323Gly)	MAP1S (D297G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122732	NM_018174.6(MAP1S):c.1006G>A (p.Val336Ile)	MAP1S (V310I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468896	NM_018174.6(MAP1S):c.1031C>T (p.Ala344Val)	MAP1S (A344V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320785	NM_018174.6(MAP1S):c.1033G>A (p.Ala345Thr)	MAP1S (A319T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544401	NM_018174.6(MAP1S):c.1049G>A (p.Arg350His)	MAP1S (R350H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122733	NM_018174.6(MAP1S):c.1121G>A (p.Arg374His)	MAP1S (R348H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292946	NM_018174.6(MAP1S):c.1162A>T (p.Met388Leu)	MAP1S (M362L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347258	NM_018174.6(MAP1S):c.1228G>T (p.Ala410Ser)	MAP1S (A384S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609088	NM_018174.6(MAP1S):c.1265G>T (p.Gly422Val)	MAP1S (G396V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709796	NM_018174.6(MAP1S):c.1272C>T (p.Gly424=)	MAP1S	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3292949	NM_018174.6(MAP1S):c.1368G>T (p.Glu456Asp)	MAP1S (E456D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362679	NM_018174.6(MAP1S):c.1382C>T (p.Pro461Leu)	MAP1S (P461L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551112	NM_018174.6(MAP1S):c.1472A>G (p.His491Arg)	MAP1S (H491R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310396	NM_018174.6(MAP1S):c.1513G>A (p.Glu505Lys)	MAP1S (E505K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370315	NM_018174.6(MAP1S):c.1553A>C (p.Glu518Ala)	MAP1S (E492A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219911	NM_018174.6(MAP1S):c.1567C>T (p.Arg523Trp)	MAP1S (R497W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349428	NM_018174.6(MAP1S):c.1592C>T (p.Pro531Leu)	MAP1S (P505L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292947	NM_018174.6(MAP1S):c.1625G>A (p.Arg542His)	MAP1S (R542H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406136	NM_018174.6(MAP1S):c.1646C>G (p.Pro549Arg)	MAP1S (P549R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470022	NM_018174.6(MAP1S):c.1649A>G (p.Asn550Ser)	MAP1S (N524S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122734	NM_018174.6(MAP1S):c.1661C>T (p.Thr554Met)	MAP1S (T528M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122735	NM_018174.6(MAP1S):c.1687C>A (p.Arg563Ser)	MAP1S (R563S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122736	NM_018174.6(MAP1S):c.1699A>C (p.Ser567Arg)	MAP1S (S541R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347419	NM_018174.6(MAP1S):c.1699A>G (p.Ser567Gly)	MAP1S (S541G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365271	NM_018174.6(MAP1S):c.1706C>G (p.Ser569Cys)	MAP1S (S569C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219317	NM_018174.6(MAP1S):c.1741C>A (p.Arg581Ser)	MAP1S (R581S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395697	NM_018174.6(MAP1S):c.1754G>A (p.Ser585Asn)	MAP1S (S559N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557269	NM_018174.6(MAP1S):c.1762T>C (p.Cys588Arg)	MAP1S (C588R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122738	NM_018174.6(MAP1S):c.1775G>C (p.Ser592Thr)	MAP1S (S592T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373366	NM_018174.6(MAP1S):c.1781C>G (p.Pro594Arg)	MAP1S (P594R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122739	NM_018174.6(MAP1S):c.1802C>T (p.Pro601Leu)	MAP1S (P601L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267405	NM_018174.6(MAP1S):c.1853C>T (p.Ala618Val)	MAP1S (A618V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292951	NM_018174.6(MAP1S):c.1855G>T (p.Gly619Trp)	MAP1S (G593W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342551	NM_018174.6(MAP1S):c.1957C>T (p.Arg653Trp)	MAP1S (R653W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354698	NM_018174.6(MAP1S):c.2140G>A (p.Glu714Lys)	MAP1S (E688K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367567	NM_018174.6(MAP1S):c.2143G>C (p.Ala715Pro)	MAP1S (A689P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122740	NM_018174.6(MAP1S):c.2146G>T (p.Gly716Trp)	MAP1S (G716W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292943	NM_018174.6(MAP1S):c.2153G>T (p.Ser718Ile)	MAP1S (S718I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241548	NM_018174.6(MAP1S):c.2176G>C (p.Ala726Pro)	MAP1S (A726P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522434	NM_018174.6(MAP1S):c.2180G>A (p.Arg727Gln)	MAP1S (R701Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225887	NM_018174.6(MAP1S):c.2183G>A (p.Arg728His)	MAP1S (R702H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318519	NM_018174.6(MAP1S):c.2186C>T (p.Ser729Leu)	MAP1S (S703L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393351	NM_018174.6(MAP1S):c.2318G>A (p.Arg773Gln)	MAP1S (R773Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538906	NM_018174.6(MAP1S):c.2324G>T (p.Gly775Val)	MAP1S (G775V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355740	NM_018174.6(MAP1S):c.2345C>T (p.Thr782Met)	MAP1S (T782M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122741	NM_018174.6(MAP1S):c.2390C>T (p.Ser797Leu)	MAP1S (S771L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292952	NM_018174.6(MAP1S):c.2417C>T (p.Ala806Val)	MAP1S (A780V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292954	NM_018174.6(MAP1S):c.2464G>A (p.Asp822Asn)	MAP1S (D822N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281311	NM_018174.6(MAP1S):c.2503C>T (p.Pro835Ser)	MAP1S (P835S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122742	NM_018174.6(MAP1S):c.2515A>T (p.Ser839Cys)	MAP1S (S813C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292950	NM_018174.6(MAP1S):c.2543T>C (p.Leu848Pro)	MAP1S (L848P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122744	NM_018174.6(MAP1S):c.2567C>T (p.Thr856Met)	MAP1S (T856M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122743	NM_018174.6(MAP1S):c.2567C>G (p.Thr856Arg)	MAP1S (T856R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292940	NM_018174.6(MAP1S):c.2575G>A (p.Val859Ile)	MAP1S (V859I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213031	NM_018174.6(MAP1S):c.2581C>A (p.Arg861Ser)	MAP1S (R835S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341832	NM_018174.6(MAP1S):c.2602C>G (p.Arg868Gly)	MAP1S (R868G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278566	NM_018174.6(MAP1S):c.2609A>G (p.Asn870Ser)	MAP1S (N870S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267408	NM_018174.6(MAP1S):c.2610C>G (p.Asn870Lys)	MAP1S (N870K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380499	NM_018174.6(MAP1S):c.2614C>G (p.Arg872Gly)	MAP1S (R846G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122746	NM_018174.6(MAP1S):c.2615G>T (p.Arg872Leu)	MAP1S (R872L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122747	NM_018174.6(MAP1S):c.2626C>G (p.Pro876Ala)	MAP1S (P850A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292944	NM_018174.6(MAP1S):c.2653A>G (p.Lys885Glu)	MAP1S (K885E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528062	NM_018174.6(MAP1S):c.2701G>C (p.Ala901Pro)	MAP1S (A875P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395261	NM_018174.6(MAP1S):c.2719G>A (p.Glu907Lys)	MAP1S (E907K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597862	NM_018174.6(MAP1S):c.2783C>T (p.Pro928Leu)	MAP1S (P928L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292939	NM_018174.6(MAP1S):c.2797A>C (p.Ser933Arg)	MAP1S (S907R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350584	NM_018174.6(MAP1S):c.2809G>A (p.Gly937Arg)	MAP1S (G937R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122748	NM_018174.6(MAP1S):c.2813T>C (p.Val938Ala)	MAP1S (V912A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407120	NM_018174.6(MAP1S):c.2908C>T (p.Arg970Cys)	MAP1S (R944C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378242	NM_018174.6(MAP1S):c.2909G>A (p.Arg970His)	MAP1S (R944H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467470	NM_018174.6(MAP1S):c.2929G>A (p.Val977Ile)	MAP1S (V951I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405429	NM_018174.6(MAP1S):c.2963G>A (p.Gly988Asp)	MAP1S (G962D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382469	NM_018174.6(MAP1S):c.2971G>A (p.Ala991Thr)	MAP1S (A991T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346821	NM_018174.6(MAP1S):c.2974G>A (p.Val992Ile)	MAP1S (V966I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378754	NM_018174.6(MAP1S):c.3013C>T (p.Arg1005Cys)	MAP1S (R1005C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254980	NM_018174.6(MAP1S):c.3073G>A (p.Ala1025Thr)	MAP1S (A1025T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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