SLITRK3[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	LOC129389166, LOC129389167 +306 more	Copy number gain	See cases	GPathogenic
Select item 2495125	NM_001318810.2(SLITRK3):c.2902G>A (p.Glu968Lys)	SLITRK3 (E968K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252706	NM_001318810.2(SLITRK3):c.2878C>G (p.Leu960Val)	SLITRK3 (L960V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246727	NM_001318810.2(SLITRK3):c.2842A>G (p.Thr948Ala)	SLITRK3 (T948A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226587	NM_001318810.2(SLITRK3):c.2831C>G (p.Thr944Arg)	SLITRK3 (T944R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279722	NM_001318810.2(SLITRK3):c.2830A>G (p.Thr944Ala)	SLITRK3 (T944A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350329	NM_001318810.2(SLITRK3):c.2813C>T (p.Ser938Leu)	SLITRK3 (S938L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244789	NM_001318810.2(SLITRK3):c.2699T>C (p.Val900Ala)	SLITRK3 (V900A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709671	NM_001318810.2(SLITRK3):c.2676T>C (p.Pro892=)	SLITRK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2280888	NM_001318810.2(SLITRK3):c.2668C>A (p.Pro890Thr)	SLITRK3 (P890T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265922	NM_001318810.2(SLITRK3):c.2660G>A (p.Arg887Gln)	SLITRK3 (R887Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482889	NM_001318810.2(SLITRK3):c.2599G>T (p.Gly867Cys)	SLITRK3 (G867C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407608	NM_001318810.2(SLITRK3):c.2582G>A (p.Arg861His)	SLITRK3 (R861H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487847	NM_001318810.2(SLITRK3):c.2573C>T (p.Ala858Val)	SLITRK3 (A858V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537664	NM_001318810.2(SLITRK3):c.2536G>C (p.Val846Leu)	SLITRK3 (V846L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533041	NM_001318810.2(SLITRK3):c.2483A>G (p.Asn828Ser)	SLITRK3 (N828S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597854	NM_001318810.2(SLITRK3):c.2354C>T (p.Pro785Leu)	SLITRK3 (P785L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654262	NM_001318810.2(SLITRK3):c.2299T>A (p.Ser767Thr)	SLITRK3 (S767T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654263	NM_001318810.2(SLITRK3):c.2211T>C (p.Gly737=)	SLITRK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2459225	NM_001318810.2(SLITRK3):c.2129A>T (p.Glu710Val)	SLITRK3 (E710V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340116	NM_001318810.2(SLITRK3):c.2095A>T (p.Thr699Ser)	SLITRK3 (T699S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302612	NM_001318810.2(SLITRK3):c.1889C>T (p.Ser630Phe)	SLITRK3 (S630F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344758	NM_001318810.2(SLITRK3):c.1874C>A (p.Ala625Asp)	SLITRK3 (A625D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334994	NM_001318810.2(SLITRK3):c.1849G>A (p.Val617Ile)	SLITRK3 (V617I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2391574	NM_001318810.2(SLITRK3):c.1839G>C (p.Glu613Asp)	SLITRK3 (E613D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 930212	NM_001318810.2(SLITRK3):c.1816G>T (p.Glu606Ter)	SLITRK3 (E606*)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 2356429	NM_001318810.2(SLITRK3):c.1793C>T (p.Thr598Met)	SLITRK3 (T598M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622938	NM_001318810.2(SLITRK3):c.1775G>A (p.Arg592Lys)	SLITRK3 (R592K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226507	NM_001318810.2(SLITRK3):c.1630G>A (p.Val544Met)	SLITRK3 (V544M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468737	NM_001318810.2(SLITRK3):c.1567G>A (p.Ala523Thr)	SLITRK3 (A523T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314541	NM_001318810.2(SLITRK3):c.1488G>T (p.Gln496His)	SLITRK3 (Q496H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493278	NM_001318810.2(SLITRK3):c.1417C>A (p.Pro473Thr)	SLITRK3 (P473T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255829	NM_001318810.2(SLITRK3):c.1202C>A (p.Ser401Tyr)	SLITRK3 (S401Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345897	NM_001318810.2(SLITRK3):c.1004C>T (p.Pro335Leu)	SLITRK3 (P335L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549904	NM_001318810.2(SLITRK3):c.995A>G (p.Gln332Arg)	SLITRK3 (Q332R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623730	NM_001318810.2(SLITRK3):c.853T>G (p.Ser285Ala)	SLITRK3 (S285A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276649	NM_001318810.2(SLITRK3):c.831G>C (p.Lys277Asn)	SLITRK3 (K277N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533071	NM_001318810.2(SLITRK3):c.527G>C (p.Arg176Thr)	SLITRK3 (R176T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329752	NM_001318810.2(SLITRK3):c.509G>A (p.Arg170Gln)	SLITRK3 (R170Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410162	NM_001318810.2(SLITRK3):c.277T>C (p.Tyr93His)	SLITRK3 (Y93H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295457	NM_001318810.2(SLITRK3):c.265A>C (p.Met89Leu)	SLITRK3 (M89L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539486	NM_001318810.2(SLITRK3):c.238T>C (p.Phe80Leu)	SLITRK3 (F80L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312186	NM_001318810.2(SLITRK3):c.206T>C (p.Ile69Thr)	SLITRK3 (I69T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024629	GRCh37/hg19 3q26.1-26.2(chr3:164432414-167873834)x1	PDCD10, SERPINI1 +7 more	Copy number loss	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527053	GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596)	BCHE, GOLIM4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 562836	GRCh37/hg19 3q26.1(chr3:162823013-165005878)x3	SI, SLITRK3	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395532	GRCh37/hg19 3q26.1(chr3:163657369-167073454)x1	BCHE, SI +2 more	Copy number loss	See cases	GUncertain significance
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 63