SLITRK2[gene] and "single gene"[properties] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2475700	NM_032539.5(SLITRK2):c.9C>A (p.Ser3Arg)	SLITRK2 (S3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384048	NM_032539.5(SLITRK2):c.10G>A (p.Gly4Ser)	SLITRK2 (G4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281693	NM_032539.5(SLITRK2):c.25A>G (p.Ser9Gly)	SLITRK2 (S9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273017	NM_032539.5(SLITRK2):c.37G>A (p.Val13Met)	SLITRK2 (V13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251312	NM_032539.5(SLITRK2):c.55A>G (p.Thr19Ala)	SLITRK2 (T19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320532	NM_032539.5(SLITRK2):c.74C>T (p.Ala25Val)	SLITRK2 (A25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334906	NM_032539.5(SLITRK2):c.221T>C (p.Leu74Ser)	SLITRK2 (L74S)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 2602647	NM_032539.5(SLITRK2):c.238A>G (p.Asn80Asp)	SLITRK2 (N80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2661583	NM_032539.5(SLITRK2):c.249C>G (p.Val83=)	SLITRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3320534	NM_032539.5(SLITRK2):c.403A>T (p.Ser135Cys)	SLITRK2 (S135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166072	NM_032539.5(SLITRK2):c.440G>T (p.Ser147Ile)	SLITRK2 (S147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611375	NM_032539.5(SLITRK2):c.584T>C (p.Val195Ala)	SLITRK2 (V195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166073	NM_032539.5(SLITRK2):c.601G>A (p.Val201Ile)	SLITRK2 (V201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334909	NM_032539.5(SLITRK2):c.628G>A (p.Glu210Lys)	SLITRK2 (E210K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GConflicting classifications of pathogenicity
Select item 3236625	NM_032539.5(SLITRK2):c.630G>T (p.Glu210Asp)	SLITRK2 (E210D)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111	GUncertain significance
Select item 3166074	NM_032539.5(SLITRK2):c.821G>A (p.Arg274Lys)	SLITRK2 (R274K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320531	NM_032539.5(SLITRK2):c.869A>G (p.Asn290Ser)	SLITRK2 (N290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166075	NM_032539.5(SLITRK2):c.886A>G (p.Thr296Ala)	SLITRK2 (T296A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334907	NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala)	SLITRK2 (T312A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GPathogenic/Likely pathogenic
Select item 730197	NM_032539.5(SLITRK2):c.987G>A (p.Val329=)	SLITRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620335	NM_032539.5(SLITRK2):c.1120C>T (p.Pro374Ser)	SLITRK2 (P374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334882	NM_032539.5(SLITRK2):c.1121C>G (p.Pro374Arg)	SLITRK2 (P374R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GPathogenic/Likely pathogenic
Select item 2556193	NM_032539.5(SLITRK2):c.1259C>A (p.Thr420Lys)	SLITRK2 (T420K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334905	NM_032539.5(SLITRK2):c.1276C>T (p.Arg426Cys)	SLITRK2 (R426C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GPathogenic/Likely pathogenic
Select item 2661584	NM_032539.5(SLITRK2):c.1311G>T (p.Val437=)	SLITRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1334881	NM_032539.5(SLITRK2):c.1381G>T (p.Glu461Ter)	SLITRK2 (E461*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, X-linked 111 +1 more	GPathogenic/Likely pathogenic
Select item 785710	NM_032539.5(SLITRK2):c.1467T>C (p.Asn489=)	SLITRK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749618	NM_032539.5(SLITRK2):c.1509C>T (p.Asn503=)	SLITRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1334908	NM_032539.5(SLITRK2):c.1531G>A (p.Val511Met)	SLITRK2 (V511M)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GConflicting classifications of pathogenicity
Select item 2332043	NM_032539.5(SLITRK2):c.1636C>T (p.His546Tyr)	SLITRK2 (H546Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334910	NM_032539.5(SLITRK2):c.1665G>C (p.Glu555Asp)	SLITRK2 (E555D)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2661585	NM_032539.5(SLITRK2):c.1674C>T (p.Cys558=)	SLITRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2390336	NM_032539.5(SLITRK2):c.1721G>A (p.Arg574Lys)	SLITRK2 (R574K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273538	NM_032539.5(SLITRK2):c.1729A>G (p.Ile577Val)	SLITRK2 (I577V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166070	NM_032539.5(SLITRK2):c.1844A>C (p.Glu615Ala)	SLITRK2 (E615A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708257	NM_032539.5(SLITRK2):c.1873T>C (p.Leu625=)	SLITRK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2483516	NM_032539.5(SLITRK2):c.1893A>T (p.Leu631Phe)	SLITRK2 (L631F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739481	NM_032539.5(SLITRK2):c.1920C>T (p.Phe640=)	SLITRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3336952	NM_032539.5(SLITRK2):c.1937G>A (p.Arg646His)	SLITRK2 (R646H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3320533	NM_032539.5(SLITRK2):c.1939C>G (p.Arg647Gly)	SLITRK2 (R647G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458895	NM_032539.5(SLITRK2):c.1940G>A (p.Arg647Gln)	SLITRK2 (R647Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 751975	NM_032539.5(SLITRK2):c.2328T>C (p.Phe776=)	SLITRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3166071	NM_032539.5(SLITRK2):c.2420C>T (p.Pro807Leu)	SLITRK2 (P807L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227128	NM_032539.5(SLITRK2):c.2420C>A (p.Pro807His)	SLITRK2 (P807H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307602	NM_032539.5(SLITRK2):c.2441A>C (p.Gln814Pro)	SLITRK2 (Q814P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608226	NM_032539.5(SLITRK2):c.2446A>G (p.Lys816Glu)	SLITRK2 (K816E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398017	NM_032539.5(SLITRK2):c.2477C>T (p.Pro826Leu)	SLITRK2 (P826L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664963	NM_032539.5(SLITRK2):c.2485G>T (p.Glu829Ter)	SLITRK2 (E829*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, X-linked 111	GUncertain significance

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Items: 48