ClinVar for Gene (Select 9353) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234295	NM_004787.4(SLIT2):c.3536G>A (p.Arg1179Gln)	SLIT2 (R1171Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3166033	NM_004787.4(SLIT2):c.968A>T (p.Tyr323Phe)	SLIT2 (Y327F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166032	NM_004787.4(SLIT2):c.4520C>T (p.Thr1507Ile)	SLIT2 (T1503I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166031	NM_004787.4(SLIT2):c.3545C>T (p.Thr1182Met)	SLIT2 (T1174M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166030	NM_004787.4(SLIT2):c.3526G>T (p.Ala1176Ser)	SLIT2 (A1168S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166029	NM_004787.4(SLIT2):c.3086C>T (p.Thr1029Ile)	SLIT2 (T1029I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166028	NM_004787.4(SLIT2):c.2142C>G (p.Asp714Glu)	SLIT2 (D706E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166027	NM_004787.4(SLIT2):c.1850G>A (p.Arg617Gln)	SLIT2 (R617Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166026	NM_004787.4(SLIT2):c.1811G>C (p.Gly604Ala)	SLIT2 (G596A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166025	NM_004787.4(SLIT2):c.172G>C (p.Glu58Gln)	SLIT2 (E58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166024	NM_004787.4(SLIT2):c.163C>G (p.Arg55Gly)	SLIT2 (R55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166023	NM_004787.4(SLIT2):c.161C>T (p.Pro54Leu)	SLIT2 (P54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166022	NM_004787.4(SLIT2):c.1569G>T (p.Lys523Asn)	SLIT2 (K523N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3061601	NM_004787.4(SLIT2):c.1065C>T (p.Leu355=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder	GLikely benign
Select item 3059102	NM_004787.4(SLIT2):c.776-967G>T	SLIT2	Single nucleotide variant (intron variant)	SLIT2-related disorder	GBenign
Select item 3055501	NM_004787.4(SLIT2):c.2547T>C (p.Ser849=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder	GLikely benign
Select item 3053940	NM_004787.4(SLIT2):c.2172T>G (p.Leu724=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder	GLikely benign
Select item 3052989	NM_004787.4(SLIT2):c.3592C>T (p.Leu1198=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder	GLikely benign
Select item 3052013	NM_004787.4(SLIT2):c.3171A>G (p.Pro1057=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder	GLikely benign
Select item 3051488	NM_004787.4(SLIT2):c.3219C>T (p.Cys1073=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder	GLikely benign
Select item 3050734	NM_004787.4(SLIT2):c.612-10T>C	SLIT2	Single nucleotide variant (intron variant)	SLIT2-related disorder	GLikely benign
Select item 3035918	NM_004787.4(SLIT2):c.2700T>C (p.Thr900=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder	GLikely benign
Select item 3034384	NM_004787.4(SLIT2):c.*10C>T	SLIT2	Single nucleotide variant (3 prime UTR variant)	SLIT2-related disorder	GLikely benign
Select item 3031972	NM_004787.4(SLIT2):c.57C>A (p.Ile19=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder	GLikely benign
Select item 3031150	NM_004787.4(SLIT2):c.3234C>T (p.Asp1078=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder	GLikely benign
Select item 3030929	NM_004787.4(SLIT2):c.3669T>C (p.Ser1223=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder	GLikely benign
Select item 3030912	NM_004787.4(SLIT2):c.2850+3A>C	SLIT2	Single nucleotide variant (intron variant)	SLIT2-related disorder	GLikely benign
Select item 3029737	NM_004787.4(SLIT2):c.2767C>T (p.Leu923=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder	GLikely benign
Select item 3023347	NM_004787.4(SLIT2):c.2561+15T>A	SLIT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3023093	NM_004787.4(SLIT2):c.3180C>T (p.Phe1060=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021991	NM_004787.4(SLIT2):c.2663G>T (p.Gly888Val)	SLIT2 (G884V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020118	NM_004787.4(SLIT2):c.2277-13C>A	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013052	NM_004787.4(SLIT2):c.468G>A (p.Leu156=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3007878	NM_004787.4(SLIT2):c.4465G>A (p.Gly1489Arg)	SLIT2 (G1481R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006925	NM_004787.4(SLIT2):c.1715A>G (p.Asp572Gly)	SLIT2 (D568G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998104	NM_004787.4(SLIT2):c.936C>A (p.Ile312=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994418	NM_004787.4(SLIT2):c.377C>T (p.Thr126Ile)	SLIT2 (T126I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2992949	NM_004787.4(SLIT2):c.3711T>C (p.Asp1237=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992072	NM_004787.4(SLIT2):c.539+13A>G	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988136	NM_004787.4(SLIT2):c.4413C>T (p.Cys1471=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987730	NM_004787.4(SLIT2):c.3043G>A (p.Asp1015Asn)	SLIT2 (D1007N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983350	NM_004787.4(SLIT2):c.3636G>A (p.Arg1212=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983339	NM_004787.4(SLIT2):c.2750C>T (p.Ala917Val)	SLIT2 (A909V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979079	NM_004787.4(SLIT2):c.1819A>C (p.Ser607Arg)	SLIT2 (S599R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975673	NM_004787.4(SLIT2):c.324-14T>C	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961044	NM_004787.4(SLIT2):c.2251G>C (p.Gly751Arg)	SLIT2 (G751R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960103	NM_004787.4(SLIT2):c.251+14C>T	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959736	NM_004787.4(SLIT2):c.3183-13C>T	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959661	NM_004787.4(SLIT2):c.1977-13C>G	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956166	NM_004787.4(SLIT2):c.4296G>T (p.Gly1432=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955141	NM_004787.4(SLIT2):c.2058G>A (p.Thr686=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913414	NM_004787.4(SLIT2):c.3355C>T (p.Leu1119Phe)	SLIT2 (L1111F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906386	NM_004787.4(SLIT2):c.1233C>T (p.Ile411=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder +1 more	GLikely benign
Select item 2903614	NM_004787.4(SLIT2):c.1616G>A (p.Arg539His)	SLIT2 (R539H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903330	NM_004787.4(SLIT2):c.987-8A>C	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890833	NM_004787.4(SLIT2):c.1614-7T>A	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888596	NM_004787.4(SLIT2):c.4289G>A (p.Gly1430Asp)	SLIT2 (G1422D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888395	NM_004787.4(SLIT2):c.1638C>T (p.Thr546=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885931	NM_004787.4(SLIT2):c.1614-7T>C	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881643	NM_004787.4(SLIT2):c.3692+19C>T	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874993	NM_004787.4(SLIT2):c.334A>C (p.Arg112=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873414	NM_004787.4(SLIT2):c.776-10T>A	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804699	NM_004787.4(SLIT2):c.226G>C (p.Ala76Pro)	SLIT2 (A76P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792260	NM_004787.4(SLIT2):c.1347G>A (p.Pro449=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789814	NM_004787.4(SLIT2):c.3321-17T>A	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788058	NM_004787.4(SLIT2):c.126C>G (p.His42Gln)	SLIT2 (H42Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781864	NM_004787.4(SLIT2):c.395+12C>T	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778611	NM_004787.4(SLIT2):c.833C>T (p.Thr278Ile)	SLIT2 (T282I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769091	NM_004787.4(SLIT2):c.4422C>A (p.Thr1474=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764630	NM_004787.4(SLIT2):c.376A>T (p.Thr126Ser)	SLIT2 (T126S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752949	NM_004787.4(SLIT2):c.919T>C (p.Leu307=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2750521	NM_004787.4(SLIT2):c.1468G>A (p.Glu490Lys)	SLIT2 (E486K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749805	NM_004787.4(SLIT2):c.3621G>A (p.Ala1207=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746883	NM_004787.4(SLIT2):c.2144-13C>A	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725298	NM_004787.4(SLIT2):c.3556C>T (p.Leu1186Phe)	SLIT2 (L1178F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722266	NM_004787.4(SLIT2):c.1731A>G (p.Ala577=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718696	NM_004787.4(SLIT2):c.3289G>A (p.Gly1097Ser)	SLIT2 (G1089S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715838	NM_004787.4(SLIT2):c.2143+6A>T	SLIT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2707313	NM_004787.4(SLIT2):c.683C>G (p.Pro228Arg)	SLIT2 (P228R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706141	NM_004787.4(SLIT2):c.1875T>C (p.Ser625=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2685960	GRCh37/hg19 4p15.31(chr4:19242239-20475165)x3	SLIT2	Copy number gain	not provided	GUncertain significance
Select item 2685107	GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1	ADGRA3, BOD1L1 +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 2654694	NM_004787.4(SLIT2):c.3088+81G>A	SLIT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2654693	NM_004787.4(SLIT2):c.2748A>G (p.Leu916=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654692	NM_004787.4(SLIT2):c.2457C>T (p.Arg819=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654691	NM_004787.4(SLIT2):c.849C>T (p.Ile283=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634892	NM_004787.4(SLIT2):c.104C>T (p.Ser35Leu)	SLIT2 (S35L)	Single nucleotide variant (missense variant)	SLIT2-related disorder	GUncertain significance
Select item 2634793	NM_004787.4(SLIT2):c.1505C>T (p.Ala502Val)	SLIT2 (A494V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2634630	NM_004787.4(SLIT2):c.486G>C (p.Gln162His)	SLIT2 (Q162H)	Single nucleotide variant (missense variant)	SLIT2-related disorder	GUncertain significance
Select item 2632225	NM_004787.4(SLIT2):c.2519T>C (p.Val840Ala)	SLIT2 (V832A +2 more)	Single nucleotide variant (missense variant)	SLIT2-related disorder	GUncertain significance
Select item 2631823	NM_004787.4(SLIT2):c.260T>G (p.Met87Arg)	SLIT2 (M87R)	Single nucleotide variant (missense variant)	SLIT2-related disorder	GUncertain significance
Select item 2613771	NM_004787.4(SLIT2):c.2579C>G (p.Pro860Arg)	SLIT2 (P856R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611039	NM_004787.4(SLIT2):c.2678C>A (p.Ala893Glu)	SLIT2 (A885E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579574	NM_004787.4(SLIT2):c.3350T>C (p.Met1117Thr)	SLIT2 (M1109T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	ABLIM2, ACOX3 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic

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