11087[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 148094	GRCh38/hg38 5q34-35.1(chr5:168234662-169027391)x3	FBLL1, LOC123575611 +30 more	Copy number gain	See cases	GUncertain significance
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
Select item 2635824	NM_003062.4(SLIT3):c.10_17del	SLIT3	Deletion (3 prime UTR variant)	SLIT3-related disorder	GUncertain significance
Select item 2304880	NM_003062.4(SLIT3):c.4561G>A (p.Ala1521Thr)	SLIT3 (A1528T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309060	NM_003062.4(SLIT3):c.4558C>T (p.Leu1520Phe)	SLIT3 (L1527F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592505	NM_003062.4(SLIT3):c.4552G>A (p.Gly1518Ser)	SLIT3 (G1518S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656043	NM_003062.4(SLIT3):c.4506G>A (p.Thr1502=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2388206	NM_003062.4(SLIT3):c.4481G>A (p.Arg1494Gln)	SLIT3 (R1494Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349765	NM_003062.4(SLIT3):c.4472G>A (p.Arg1491His)	SLIT3 (R1491H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635033	NM_003062.4(SLIT3):c.4455G>T (p.Gln1485His)	SLIT3 (Q1485H +1 more)	Single nucleotide variant (missense variant)	SLIT3-related disorder	GUncertain significance
Select item 3166060	NM_003062.4(SLIT3):c.4436G>A (p.Arg1479His)	SLIT3 (R1486H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 771388	NM_003062.4(SLIT3):c.4379G>A (p.Arg1460His)	SLIT3 (R1467H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3166059	NM_003062.4(SLIT3):c.4378C>T (p.Arg1460Cys)	SLIT3 (R1460C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282496	NM_003062.4(SLIT3):c.4361T>G (p.Val1454Gly)	SLIT3 (V1454G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486285	NM_003062.4(SLIT3):c.4343C>T (p.Pro1448Leu)	SLIT3 (P1455L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656044	NM_003062.4(SLIT3):c.4321G>A (p.Glu1441Lys)	SLIT3 (E1441K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405646	NM_003062.4(SLIT3):c.4309G>A (p.Gly1437Ser)	SLIT3 (G1437S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494787	NM_003062.4(SLIT3):c.4289C>T (p.Pro1430Leu)	SLIT3 (P1430L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462045	NM_003062.4(SLIT3):c.4247A>G (p.Lys1416Arg)	SLIT3 (K1416R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166058	NM_003062.4(SLIT3):c.4196G>A (p.Gly1399Glu)	SLIT3 (G1406E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656045	NM_003062.4(SLIT3):c.4165T>C (p.Tyr1389His)	SLIT3 (Y1389H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2318859	NM_003062.4(SLIT3):c.4154C>A (p.Thr1385Asn)	SLIT3 (T1392N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166057	NM_003062.4(SLIT3):c.4097A>G (p.Gln1366Arg)	SLIT3 (Q1366R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1268560	NM_003062.4(SLIT3):c.4095T>C (p.Asp1365=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710326	NM_003062.4(SLIT3):c.4080C>T (p.Thr1360=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2656046	NM_003062.4(SLIT3):c.4053G>A (p.Val1351=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2206469	NM_003062.4(SLIT3):c.4044G>T (p.Lys1348Asn)	SLIT3 (K1348N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 736167	NM_003062.4(SLIT3):c.3999G>A (p.Lys1333=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2252374	NM_003062.4(SLIT3):c.3971A>C (p.Gln1324Pro)	SLIT3 (Q1331P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656047	NM_003062.4(SLIT3):c.3960C>A (p.Ala1320=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3166056	NM_003062.4(SLIT3):c.3947A>T (p.Gln1316Leu)	SLIT3 (Q1316L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744181	NM_003062.4(SLIT3):c.3945G>A (p.Leu1315=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2320730	NM_003062.4(SLIT3):c.3923A>T (p.Glu1308Val)	SLIT3 (E1315V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756753	NM_003062.4(SLIT3):c.3918C>T (p.Ile1306=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3040777	NM_003062.4(SLIT3):c.3903C>T (p.Gly1301=)	SLIT3	Single nucleotide variant (synonymous variant)	SLIT3-related disorder	GBenign
Select item 1242920	NM_003062.4(SLIT3):c.3867T>C (p.Ser1289=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2404023	NM_003062.4(SLIT3):c.3859G>A (p.Gly1287Ser)	SLIT3 (G1287S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656048	NM_003062.4(SLIT3):c.3783C>T (p.Ser1261=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2228265	NM_003062.4(SLIT3):c.3742C>A (p.Gln1248Lys)	SLIT3 (Q1248K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283455	NM_003062.4(SLIT3):c.3602A>G (p.Asn1201Ser)	SLIT3 (N1208S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535594	NM_003062.4(SLIT3):c.3566A>C (p.Asp1189Ala)	SLIT3 (D1189A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492976	NM_003062.4(SLIT3):c.3556G>A (p.Val1186Met)	SLIT3 (V1193M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656049	NM_003062.4(SLIT3):c.3540C>T (p.Ala1180=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711944	NM_003062.4(SLIT3):c.3505G>C (p.Val1169Leu)	SLIT3 (V1169L +1 more)	Single nucleotide variant (missense variant)	SLIT3-related disorder +1 more	GLikely benign
Select item 2591558	NM_003062.4(SLIT3):c.3478G>A (p.Val1160Ile)	SLIT3 (V1167I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603994	NM_003062.4(SLIT3):c.3454C>T (p.Pro1152Ser)	SLIT3 (P1159S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809840	NM_003062.4(SLIT3):c.3365C>A (p.Pro1122Gln)	SLIT3 (P1129Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3166052	NM_003062.4(SLIT3):c.3333C>A (p.His1111Gln)	SLIT3 (H1118Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609614	NM_003062.4(SLIT3):c.3296C>T (p.Thr1099Ile)	SLIT3 (T1099I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2656050	NM_003062.4(SLIT3):c.3268G>A (p.Val1090Met)	SLIT3 (V1090M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2380333	NM_003062.4(SLIT3):c.3233G>A (p.Cys1078Tyr)	SLIT3 (C1078Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166051	NM_003062.4(SLIT3):c.3230A>G (p.Asp1077Gly)	SLIT3 (D1077G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656051	NM_003062.4(SLIT3):c.3204G>A (p.Gly1068=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2318673	NM_003062.4(SLIT3):c.3123G>C (p.Glu1041Asp)	SLIT3 (E1041D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656052	NM_003062.4(SLIT3):c.3096C>T (p.Asp1032=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3047769	NM_003062.4(SLIT3):c.3088C>T (p.Leu1030=)	SLIT3	Single nucleotide variant (synonymous variant)	SLIT3-related disorder	GLikely benign
Select item 3166049	NM_003062.4(SLIT3):c.3055G>A (p.Val1019Met)	SLIT3 (V1019M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166048	NM_003062.4(SLIT3):c.3053A>T (p.Tyr1018Phe)	SLIT3 (Y1018F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776101	NM_003062.4(SLIT3):c.3033C>T (p.Cys1011=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2306870	NM_003062.4(SLIT3):c.3004G>A (p.Asp1002Asn)	SLIT3 (D1009N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620940	NM_003062.4(SLIT3):c.2995G>A (p.Asp999Asn)	SLIT3 (D1006N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029294	NM_003062.4(SLIT3):c.2991A>G (p.Pro997=)	SLIT3	Single nucleotide variant (synonymous variant)	SLIT3-related disorder	GLikely benign
Select item 2363096	NM_003062.4(SLIT3):c.2975G>A (p.Arg992Gln)	SLIT3 (R999Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656053	NM_003062.4(SLIT3):c.2874C>T (p.Thr958=)	SLIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2242106	NM_003062.4(SLIT3):c.2860G>A (p.Val954Met)	SLIT3 (V961M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656054	NM_003062.4(SLIT3):c.2805T>C (p.Pro935=)	SLIT3, SLIT3-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723995	NM_003062.4(SLIT3):c.2719+9C>T	SLIT3-AS2, SLIT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3166047	NM_003062.4(SLIT3):c.2654G>A (p.Ser885Asn)	SLIT3, SLIT3-AS2 (S885N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498992	NM_003062.4(SLIT3):c.2643C>T (p.Ile881=)	SLIT3, SLIT3-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2380260	NM_003062.4(SLIT3):c.2621C>T (p.Ala874Val)	SLIT3, SLIT3-AS2 (A874V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656055	NM_003062.4(SLIT3):c.2559G>A (p.Ala853=)	SLIT3, SLIT3-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780981	NM_003062.4(SLIT3):c.2555+9C>T	LOC126807585, SLIT3 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769671	NM_003062.4(SLIT3):c.2533G>A (p.Asp845Asn)	LOC126807585, SLIT3 +1 more (D845N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2241457	NM_003062.4(SLIT3):c.2531A>G (p.Asn844Ser)	LOC126807585, SLIT3 +1 more (N844S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2441796	NM_003062.4(SLIT3):c.2483+1967A>G	SLIT3, SLIT3-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	SLIT3-related anomalies of the kidney and urinary tract	GUncertain significance
Select item 3166046	NM_003062.4(SLIT3):c.2447T>C (p.Val816Ala)	SLIT3 (V816A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166045	NM_003062.4(SLIT3):c.2394G>A (p.Met798Ile)	SLIT3 (M798I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441867	NM_003062.4(SLIT3):c.2393T>C (p.Met798Thr)	SLIT3 (M798T)	Single nucleotide variant (missense variant)	SLIT3-related anomalies of the kidney and urinary tract +1 more	GUncertain significance
Select item 3034009	NM_003062.4(SLIT3):c.2333C>A (p.Thr778Lys)	SLIT3 (T778K)	Single nucleotide variant (missense variant)	SLIT3-related disorder	GUncertain significance
Select item 2277223	NM_003062.4(SLIT3):c.2333C>T (p.Thr778Met)	SLIT3 (T778M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166044	NM_003062.4(SLIT3):c.2317G>A (p.Ala773Thr)	SLIT3 (A773T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353852	NM_003062.4(SLIT3):c.2233G>A (p.Ala745Thr)	SLIT3 (A745T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166043	NM_003062.4(SLIT3):c.2206G>A (p.Val736Met)	SLIT3 (V736M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726060	NM_003062.4(SLIT3):c.2169G>A (p.Pro723=)	SLIT3	Single nucleotide variant (synonymous variant)	SLIT3-related disorder +1 more	GLikely benign
Select item 2205129	NM_003062.4(SLIT3):c.2129C>T (p.Thr710Ile)	SLIT3 (T710I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441892	NM_003062.4(SLIT3):c.2045G>A (p.Arg682Gln)	SLIT3 (R682Q)	Single nucleotide variant (missense variant)	SLIT3-related anomalies of the kidney and urinary tract	GUncertain significance
Select item 2222900	NM_003062.4(SLIT3):c.2042G>A (p.Arg681Lys)	SLIT3 (R681K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234707	NM_003062.4(SLIT3):c.2039A>T (p.Lys680Met)	SLIT3 (K680M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656056	NM_003062.4(SLIT3):c.1990C>A (p.Pro664Thr)	SLIT3 (P664T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2215399	NM_003062.4(SLIT3):c.1952C>T (p.Thr651Met)	SLIT3 (T651M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166041	NM_003062.4(SLIT3):c.1934C>A (p.Thr645Asn)	SLIT3 (T645N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774637	NM_003062.4(SLIT3):c.1886G>A (p.Ser629Asn)	SLIT3 (S629N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2358520	NM_003062.4(SLIT3):c.1879G>A (p.Gly627Ser)	SLIT3 (G627S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1234706	NM_003062.4(SLIT3):c.1852G>A (p.Gly618Ser)	SLIT3 (G618S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2618589	NM_003062.4(SLIT3):c.1819C>A (p.Leu607Ile)	SLIT3 (L607I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047539	NM_003062.4(SLIT3):c.1804C>T (p.Arg602Cys)	SLIT3 (R602C)	Single nucleotide variant (missense variant)	SLIT3-related disorder	GLikely benign
Select item 779889	NM_003062.4(SLIT3):c.1798G>A (p.Val600Met)	SLIT3 (V600M)	Single nucleotide variant (missense variant)	not provided	GBenign

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