6839[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	ACADL, C2orf80 +96 more	Copy number loss	See cases	GPathogenic
Select item 2217066	NM_001375505.1(MAP2):c.13C>T (p.Arg5Trp)	MAP2 (R5W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745143	NM_001375505.1(MAP2):c.24A>G (p.Glu8=)	MAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3122776	NM_001375505.1(MAP2):c.53C>T (p.Pro18Leu)	MAP2 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792326	NM_001375505.1(MAP2):c.54G>A (p.Pro18=)	MAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719007	NM_001375505.1(MAP2):c.105C>T (p.Gly35=)	MAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774839	NM_001375505.1(MAP2):c.117A>G (p.Glu39=)	MAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2214998	NM_001375505.1(MAP2):c.128G>A (p.Arg43Gln)	MAP2 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774414	NM_001375505.1(MAP2):c.163G>A (p.Glu55Lys)	MAP2 (E55K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2518151	NM_001375505.1(MAP2):c.364G>C (p.Ala122Pro)	MAP2 (A122P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 726279	NM_001375505.1(MAP2):c.526G>A (p.Asp176Asn)	MAP2 (D18N +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 779080	NM_001375505.1(MAP2):c.536A>G (p.Glu179Gly)	MAP2 (E174G +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3122777	NM_001375505.1(MAP2):c.611C>A (p.Thr204Asn)	MAP2 (T204N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556694	NM_001375505.1(MAP2):c.734T>G (p.Leu245Arg)	MAP2 (L244R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289687	NM_001375505.1(MAP2):c.739G>A (p.Val247Ile)	MAP2 (V243I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317966	NM_001375505.1(MAP2):c.812C>T (p.Thr271Met)	MAP2 (T267M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2495595	NM_001375505.1(MAP2):c.851T>C (p.Ile284Thr)	MAP2 (I361T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320833	NM_001375505.1(MAP2):c.875T>G (p.Met292Arg)	MAP2 (M292R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122778	NM_001375505.1(MAP2):c.931T>C (p.Ser311Pro)	MAP2 (S311P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292964	NM_001375505.1(MAP2):c.1055C>A (p.Ser352Tyr)	MAP2 (S352Y +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295308	NM_001375505.1(MAP2):c.1088A>G (p.Lys363Arg)	MAP2 (K358R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122751	NM_001375505.1(MAP2):c.1092T>G (p.Asp364Glu)	MAP2 (D360E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365572	NM_001375505.1(MAP2):c.1102A>G (p.Ile368Val)	MAP2 (I363V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3122752	NM_001375505.1(MAP2):c.1137G>A (p.Met379Ile)	MAP2 (M456I +7 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2484906	NM_001375505.1(MAP2):c.1175A>G (p.Lys392Arg)	MAP2 (K474R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791122	NM_001375505.1(MAP2):c.1219G>T (p.Val407Phe)	MAP2 (V249F +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 778822	NM_001375505.1(MAP2):c.1240G>T (p.Ala414Ser)	MAP2 (A256S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3122753	NM_001375505.1(MAP2):c.1277T>C (p.Phe426Ser)	MAP2 (F421S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3122754	NM_001375505.1(MAP2):c.1316A>C (p.Glu439Ala)	MAP2 (E435A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122755	NM_001375505.1(MAP2):c.1328A>G (p.Lys443Arg)	MAP2 (K520R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474725	NM_001375505.1(MAP2):c.1401T>A (p.Asp467Glu)	MAP2 (D466E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710620	NM_001375505.1(MAP2):c.1405G>A (p.Glu469Lys)	MAP2 (E468K +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3292960	NM_001375505.1(MAP2):c.1475A>G (p.Asp492Gly)	MAP2 (D334G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456149	NM_001375505.1(MAP2):c.1501G>A (p.Val501Ile)	MAP2 (V496I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292957	NM_001375505.1(MAP2):c.1550T>C (p.Leu517Pro)	MAP2 (L359P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358123	NM_001375505.1(MAP2):c.1601A>G (p.Gln534Arg)	MAP2 (Q533R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122756	NM_001375505.1(MAP2):c.1895C>T (p.Ala632Val)	MAP2 (A631V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122757	NM_001375505.1(MAP2):c.2000A>G (p.Tyr667Cys)	MAP2 (Y663C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775809	NM_001375505.1(MAP2):c.2037T>C (p.Asp679=)	MAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3122758	NM_001375505.1(MAP2):c.2065C>G (p.Leu689Val)	MAP2 (L685V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710621	NM_001375505.1(MAP2):c.2156G>A (p.Gly719Asp)	MAP2 (G561D +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2405371	NM_001375505.1(MAP2):c.2188G>A (p.Asp730Asn)	MAP2 (D726N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1679779	NM_001375505.1(MAP2):c.2227del (p.Asp743fs)	MAP2 (D585fs +7 more)	Deletion (frameshift variant +1 more)	MAP2-associated Neurodevelopmental Disorder	GUncertain significance
Select item 252604	NM_001375505.1(MAP2):c.2254G>T (p.Ala752Ser)	MAP2 (A752S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767846	NM_001375505.1(MAP2):c.2280T>C (p.Pro760=)	MAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 717897	NM_001375505.1(MAP2):c.2345C>T (p.Ala782Val)	MAP2 (A781V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 746180	NM_001375505.1(MAP2):c.2457G>A (p.Leu819=)	MAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2530872	NM_001375505.1(MAP2):c.2461T>G (p.Ser821Ala)	MAP2 (S816A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721146	NM_001375505.1(MAP2):c.2463T>C (p.Ser821=)	MAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 789159	NM_001375505.1(MAP2):c.2523G>A (p.Glu841=)	MAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2400175	NM_001375505.1(MAP2):c.2582A>G (p.Asp861Gly)	MAP2 (D703G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122759	NM_001375505.1(MAP2):c.2597A>T (p.Asp866Val)	MAP2 (D708V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251730	NM_001375505.1(MAP2):c.2629G>A (p.Val877Ile)	MAP2 (V719I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510476	NM_001375505.1(MAP2):c.2692G>A (p.Glu898Lys)	MAP2 (E893K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610821	NM_001375505.1(MAP2):c.2716A>G (p.Arg906Gly)	MAP2 (R748G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122760	NM_001375505.1(MAP2):c.2764G>A (p.Ala922Thr)	MAP2 (A764T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524028	NM_001375505.1(MAP2):c.2849T>C (p.Phe950Ser)	MAP2 (F1027S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401275	NM_001375505.1(MAP2):c.2899A>G (p.Ser967Gly)	MAP2 (S1044G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779081	NM_001375505.1(MAP2):c.2927A>T (p.His976Leu)	MAP2 (H1054L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2490304	NM_001375505.1(MAP2):c.2981T>A (p.Val994Glu)	MAP2 (V989E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319597	NM_001375505.1(MAP2):c.2987A>G (p.Tyr996Cys)	MAP2 (Y1073C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122761	NM_001375505.1(MAP2):c.3046G>A (p.Glu1016Lys)	MAP2 (E1094K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122762	NM_001375505.1(MAP2):c.3058A>G (p.Ser1020Gly)	MAP2 (S1019G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595042	NM_001375505.1(MAP2):c.3106C>G (p.Gln1036Glu)	MAP2 (Q1114E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 741646	NM_001375505.1(MAP2):c.3108A>G (p.Gln1036=)	MAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2547858	NM_001375505.1(MAP2):c.3184A>G (p.Ile1062Val)	MAP2 (I1057V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2475575	NM_001375505.1(MAP2):c.3188A>G (p.Asp1063Gly)	MAP2 (D1062G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 736520	NM_001375505.1(MAP2):c.3204A>G (p.Thr1068=)	MAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3122764	NM_001375505.1(MAP2):c.3220G>C (p.Ala1074Pro)	MAP2 (A1069P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408552	NM_001375505.1(MAP2):c.3220G>A (p.Ala1074Thr)	MAP2 (A1070T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3122765	NM_001375505.1(MAP2):c.3267T>A (p.Asp1089Glu)	MAP2 (D1088E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543227	NM_001375505.1(MAP2):c.3272T>A (p.Phe1091Tyr)	MAP2 (F1090Y +7 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2245453	NM_001375505.1(MAP2):c.3317G>A (p.Ser1106Asn)	MAP2 (S1188N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773129	NM_001375505.1(MAP2):c.3387G>A (p.Glu1129=)	MAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3122766	NM_001375505.1(MAP2):c.3424A>G (p.Met1142Val)	MAP2 (M1219V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466637	NM_001375505.1(MAP2):c.3461C>T (p.Thr1154Ile)	MAP2 (T1149I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 759158	NM_001375505.1(MAP2):c.3462A>G (p.Thr1154=)	MAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 785856	NM_001375505.1(MAP2):c.3498C>T (p.Ala1166=)	MAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3122767	NM_001375505.1(MAP2):c.3581T>C (p.Met1194Thr)	MAP2 (M1189T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292959	NM_001375505.1(MAP2):c.3596G>A (p.Gly1199Glu)	MAP2 (G1195E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552205	NM_001375505.1(MAP2):c.3626A>G (p.Asp1209Gly)	MAP2 (D1204G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611637	NM_001375505.1(MAP2):c.3675C>G (p.Ile1225Met)	MAP2 (I1067M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485565	NM_001375505.1(MAP2):c.3724C>A (p.Gln1242Lys)	MAP2 (Q1084K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122768	NM_001375505.1(MAP2):c.3752G>A (p.Arg1251His)	MAP2 (R1247H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595102	NM_001375505.1(MAP2):c.3764T>C (p.Leu1255Pro)	MAP2 (L1251P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265657	NM_001375505.1(MAP2):c.3778C>A (p.Leu1260Met)	MAP2 (L1259M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122769	NM_001375505.1(MAP2):c.3799G>C (p.Glu1267Gln)	MAP2 (E1109Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476468	NM_001375505.1(MAP2):c.3821C>A (p.Pro1274Gln)	MAP2 (P1274Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535665	NM_001375505.1(MAP2):c.3835G>C (p.Gly1279Arg)	MAP2 (G1274R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483714	NM_001375505.1(MAP2):c.3932T>G (p.Phe1311Cys)	MAP2 (F1311C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122770	NM_001375505.1(MAP2):c.3979G>C (p.Asp1327His)	MAP2 (D1322H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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