SLIT2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
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 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 150333	GRCh38/hg38 4p15.32-15.2(chr4:17041381-22524915)x1	ADGRA3, CLRN2 +60 more	Copy number loss	See cases	GUncertain significance
Select item 153633	GRCh38/hg38 4p15.31(chr4:19186844-20838471)x1	KCNIP4, LOC105374511 +13 more	Copy number loss	See cases	GUncertain significance
Select item 712547	NM_004787.4(SLIT2):c.27G>C (p.Leu9=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder +1 more	GBenign
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 783417	NM_004787.4(SLIT2):c.69G>A (p.Val23=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1970008	NM_004787.4(SLIT2):c.88G>A (p.Ala30Thr)	SLIT2 (A30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2788058	NM_004787.4(SLIT2):c.126C>G (p.His42Gln)	SLIT2 (H42Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591690	NM_004787.4(SLIT2):c.151A>G (p.Arg51Gly)	SLIT2 (R51G)	Single nucleotide variant (missense variant)	not provided	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 3166024	NM_004787.4(SLIT2):c.163C>G (p.Arg55Gly)	SLIT2 (R55G)	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 1598728	NM_004787.4(SLIT2):c.179+3G>A	SLIT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1902865	NM_004787.4(SLIT2):c.180-20C>A	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 749387	NM_004787.4(SLIT2):c.195T>C (p.Asn65=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2412958	NM_004787.4(SLIT2):c.242T>A (p.Leu81Gln)	SLIT2 (L81Q)	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 2631823	NM_004787.4(SLIT2):c.260T>G (p.Met87Arg)	SLIT2 (M87R)	Single nucleotide variant (missense variant)	SLIT2-related disorder	GUncertain significance
Select item 745030	NM_004787.4(SLIT2):c.275G>A (p.Ser92Asn)	SLIT2 (S92N)	Single nucleotide variant (missense variant)	SLIT2-related disorder +1 more	GLikely benign
Select item 2175348	NM_004787.4(SLIT2):c.278C>T (p.Thr93Ile)	SLIT2 (T93I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 684623	NM_004787.4(SLIT2):c.292G>A (p.Ala98Thr)	SLIT2 (A98T)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GPathogenic
Select item 2975673	NM_004787.4(SLIT2):c.324-14T>C	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 2764630	NM_004787.4(SLIT2):c.376A>T (p.Thr126Ser)	SLIT2 (T126S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2781864	NM_004787.4(SLIT2):c.395+12C>T	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988659	NM_004787.4(SLIT2):c.396-19TTG[3]	SLIT2	Microsatellite (intron variant)	not provided	GBenign
Select item 3013052	NM_004787.4(SLIT2):c.468G>A (p.Leu156=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2076820	NM_004787.4(SLIT2):c.471A>G (p.Gln157=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	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 2992072	NM_004787.4(SLIT2):c.539+13A>G	SLIT2	Single nucleotide variant (intron variant)	not provided	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 2503158	NM_004787.4(SLIT2):c.635A>T (p.Tyr212Phe)	SLIT2 (Y212F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066239	NM_004787.4(SLIT2):c.658C>T (p.Leu220Phe)	SLIT2 (L220F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600591	NM_004787.4(SLIT2):c.663C>T (p.Ser221=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2288503	NM_004787.4(SLIT2):c.688G>T (p.Val230Phe)	SLIT2 (V230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2055090	NM_004787.4(SLIT2):c.734A>G (p.His245Arg)	SLIT2 (H245R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2168663	NM_004787.4(SLIT2):c.735T>A (p.His245Gln)	SLIT2 (H245Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3059102	NM_004787.4(SLIT2):c.776-967G>T	SLIT2	Single nucleotide variant (intron variant)	SLIT2-related disorder	GBenign
Select item 1909742	NM_004787.4(SLIT2):c.776-14T>A	SLIT2	Single nucleotide variant (intron 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 2568410	NM_004787.4(SLIT2):c.782A>G (p.Gln261Arg)	SLIT2 (Q265R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2194216	NM_004787.4(SLIT2):c.826G>A (p.Ala276Thr)	SLIT2 (A276T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2316052	NM_004787.4(SLIT2):c.843C>A (p.Asn281Lys)	SLIT2 (N285K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654691	NM_004787.4(SLIT2):c.849C>T (p.Ile283=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136750	NM_004787.4(SLIT2):c.895C>G (p.Pro299Ala)	SLIT2 (P299A +1 more)	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 1469174	NM_004787.4(SLIT2):c.934A>G (p.Ile312Val)	SLIT2 (I312V +1 more)	Single nucleotide variant (missense variant)	SLIT2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2998104	NM_004787.4(SLIT2):c.936C>A (p.Ile312=)	SLIT2	Single nucleotide variant (synonymous 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 1927145	NM_004787.4(SLIT2):c.983G>A (p.Arg328Gln)	SLIT2 (R328Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022904	NM_004787.4(SLIT2):c.986+10C>T	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903330	NM_004787.4(SLIT2):c.987-8A>C	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 775950	NM_004787.4(SLIT2):c.1044C>T (p.Arg348=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder +1 more	GBenign
Select item 1261326	NM_004787.4(SLIT2):c.1059-12T>C	SLIT2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2218421	NM_004787.4(SLIT2):c.1163G>A (p.Arg388Gln)	SLIT2 (R388Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2002924	NM_004787.4(SLIT2):c.1163G>C (p.Arg388Pro)	SLIT2 (R388P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 798666	NM_004787.4(SLIT2):c.1190A>G (p.Asn397Ser)	SLIT2 (N401S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2172130	NM_004787.4(SLIT2):c.1209A>T (p.Leu403=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731090	NM_004787.4(SLIT2):c.1209A>G (p.Leu403=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder +1 more	GBenign/Likely benign
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 1608604	NM_004787.4(SLIT2):c.1274+11G>A	SLIT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2792260	NM_004787.4(SLIT2):c.1347G>A (p.Pro449=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051496	NM_004787.4(SLIT2):c.1349T>C (p.Ile450Thr)	SLIT2 (I450T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291832	NM_004787.4(SLIT2):c.1429C>T (p.Arg477Cys)	SLIT2 (R477C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2188157	NM_004787.4(SLIT2):c.1430G>A (p.Arg477His)	SLIT2 (R481H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1922892	NM_004787.4(SLIT2):c.1438+13C>G	SLIT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898739	NM_004787.4(SLIT2):c.1438+14G>A	SLIT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1918036	NM_004787.4(SLIT2):c.1463-17del	SLIT2	Deletion (intron variant)	not provided	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 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 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 2281064	NM_004787.4(SLIT2):c.1574A>T (p.Asn525Ile)	SLIT2 (N517I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779875	NM_004787.4(SLIT2):c.1584G>A (p.Pro528=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1600498	NM_004787.4(SLIT2):c.1613+15C>T	SLIT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2890833	NM_004787.4(SLIT2):c.1614-7T>A	SLIT2	Single nucleotide variant (intron 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 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 717490	NM_004787.4(SLIT2):c.1620C>G (p.Leu540=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder +1 more	GBenign
Select item 2406345	NM_004787.4(SLIT2):c.1622A>G (p.Asn541Ser)	SLIT2 (N537S +2 more)	Single nucleotide variant (missense variant)	not specified	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 1600438	NM_004787.4(SLIT2):c.1671T>C (p.Leu557=)	SLIT2	Single nucleotide variant (synonymous variant)	SLIT2-related disorder +1 more	GBenign
Select item 2040594	NM_004787.4(SLIT2):c.1678T>C (p.Leu560=)	SLIT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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