ClinVar for Gene (Select 26050) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352824	NM_001384609.1(SLITRK5):c.2464A>C (p.Arg822=)	SLITRK5	Single nucleotide variant (synonymous variant)	SLITRK5-related disorder	GLikely benign
Select item 3344442	NM_001384609.1(SLITRK5):c.994A>T (p.Lys332Ter)	SLITRK5 (K332*)	Single nucleotide variant (nonsense)	SLITRK5-related disorder	GUncertain significance
Select item 3320560	NM_001384609.1(SLITRK5):c.1649A>G (p.Asp550Gly)	SLITRK5 (D550G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320559	NM_001384609.1(SLITRK5):c.2722G>T (p.Asp908Tyr)	SLITRK5 (D908Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320558	NM_001384609.1(SLITRK5):c.86C>T (p.Ala29Val)	SLITRK5 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320557	NM_001384609.1(SLITRK5):c.2124C>A (p.Ser708Arg)	SLITRK5 (S708R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320556	NM_001384609.1(SLITRK5):c.2597C>T (p.Ser866Phe)	SLITRK5 (S866F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320555	NM_001384609.1(SLITRK5):c.1659G>C (p.Lys553Asn)	SLITRK5 (K553N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320554	NM_001384609.1(SLITRK5):c.475C>G (p.Gln159Glu)	SLITRK5 (Q159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320553	NM_001384609.1(SLITRK5):c.2743G>A (p.Val915Met)	SLITRK5 (V915M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320552	NM_001384609.1(SLITRK5):c.247A>G (p.Ile83Val)	SLITRK5 (I83V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3320550	NM_001384609.1(SLITRK5):c.1187G>A (p.Arg396Gln)	SLITRK5 (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320549	NM_001384609.1(SLITRK5):c.2413C>T (p.Pro805Ser)	SLITRK5 (P805S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320548	NM_001384609.1(SLITRK5):c.2378A>C (p.Gln793Pro)	SLITRK5 (Q793P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320547	NM_001384609.1(SLITRK5):c.1751G>C (p.Gly584Ala)	SLITRK5 (G584A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320546	NM_001384609.1(SLITRK5):c.1433A>G (p.Tyr478Cys)	SLITRK5 (Y478C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166119	NM_001384609.1(SLITRK5):c.971A>T (p.Tyr324Phe)	SLITRK5 (Y324F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166117	NM_001384609.1(SLITRK5):c.623G>A (p.Arg208Gln)	SLITRK5 (R208Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166116	NM_001384609.1(SLITRK5):c.508C>T (p.Pro170Ser)	SLITRK5 (P170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166115	NM_001384609.1(SLITRK5):c.497G>A (p.Ser166Asn)	SLITRK5 (S166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166114	NM_001384609.1(SLITRK5):c.441T>G (p.Asp147Glu)	SLITRK5 (D147E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166113	NM_001384609.1(SLITRK5):c.296A>G (p.Asn99Ser)	SLITRK5 (N99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166112	NM_001384609.1(SLITRK5):c.2784C>G (p.Asn928Lys)	SLITRK5 (N928K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166110	NM_001384609.1(SLITRK5):c.2657C>T (p.Ala886Val)	SLITRK5 (A886V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166109	NM_001384609.1(SLITRK5):c.2540C>T (p.Pro847Leu)	SLITRK5 (P847L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166108	NM_001384609.1(SLITRK5):c.2517G>C (p.Glu839Asp)	SLITRK5 (E839D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166107	NM_001384609.1(SLITRK5):c.2461G>A (p.Glu821Lys)	SLITRK5 (E821K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166106	NM_001384609.1(SLITRK5):c.2341G>C (p.Glu781Gln)	SLITRK5 (E781Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166105	NM_001384609.1(SLITRK5):c.2191G>A (p.Val731Met)	SLITRK5 (V731M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166104	NM_001384609.1(SLITRK5):c.2108A>G (p.Asn703Ser)	SLITRK5 (N703S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166103	NM_001384609.1(SLITRK5):c.2097C>G (p.His699Gln)	SLITRK5 (H699Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166102	NM_001384609.1(SLITRK5):c.2093A>G (p.Asp698Gly)	SLITRK5 (D698G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166100	NM_001384609.1(SLITRK5):c.1942G>A (p.Ala648Thr)	SLITRK5 (A648T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166099	NM_001384609.1(SLITRK5):c.1909G>T (p.Val637Leu)	SLITRK5 (V637L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166098	NM_001384609.1(SLITRK5):c.1853T>C (p.Val618Ala)	SLITRK5 (V618A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166097	NM_001384609.1(SLITRK5):c.1814C>T (p.Ser605Phe)	SLITRK5 (S605F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166096	NM_001384609.1(SLITRK5):c.1508C>G (p.Pro503Arg)	SLITRK5 (P503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166095	NM_001384609.1(SLITRK5):c.1340T>A (p.Met447Lys)	SLITRK5 (M447K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166094	NM_001384609.1(SLITRK5):c.1214A>G (p.Gln405Arg)	SLITRK5 (Q405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3058635	NM_001384609.1(SLITRK5):c.1317C>T (p.His439=)	SLITRK5	Single nucleotide variant (synonymous variant)	SLITRK5-related disorder	GLikely benign
Select item 3057648	NM_001384609.1(SLITRK5):c.2760G>A (p.Pro920=)	SLITRK5	Single nucleotide variant (synonymous variant)	SLITRK5-related disorder	GLikely benign
Select item 3051698	NM_001384609.1(SLITRK5):c.1829T>A (p.Leu610Gln)	SLITRK5 (L610Q)	Single nucleotide variant (missense variant)	SLITRK5-related disorder	GBenign
Select item 3047199	NM_001384609.1(SLITRK5):c.2209G>T (p.Ala737Ser)	SLITRK5 (A737S)	Single nucleotide variant (missense variant)	SLITRK5-related disorder	GLikely benign
Select item 3040238	NM_001384609.1(SLITRK5):c.354G>T (p.Gln118His)	SLITRK5 (Q118H)	Single nucleotide variant (missense variant)	SLITRK5-related disorder	GLikely benign
Select item 3034022	NM_001384609.1(SLITRK5):c.1866G>C (p.Thr622=)	SLITRK5	Single nucleotide variant (synonymous variant)	SLITRK5-related disorder	GLikely benign
Select item 2690041	NM_001384609.1(SLITRK5):c.2527G>T (p.Asp843Tyr)	SLITRK5 (D843Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685476	GRCh37/hg19 13q31.1-31.3(chr13:85898728-90859216)x1	MIR4500HG, SLITRK5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2685474	GRCh37/hg19 13q31.1-31.3(chr13:80420039-91327650)x1	MIR4500HG, SLITRK1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2643874	NM_001384609.1(SLITRK5):c.823T>C (p.Leu275=)	SLITRK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633021	NM_001384609.1(SLITRK5):c.2820C>G (p.Asn940Lys)	SLITRK5 (N940K)	Single nucleotide variant (missense variant)	SLITRK5-related disorder	GUncertain significance
Select item 2600102	NM_001384609.1(SLITRK5):c.122T>C (p.Ile41Thr)	SLITRK5 (I41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547865	NM_001384609.1(SLITRK5):c.1585A>G (p.Thr529Ala)	SLITRK5 (T529A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534638	NM_001384609.1(SLITRK5):c.2755C>G (p.Pro919Ala)	SLITRK5 (P919A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534607	NM_001384609.1(SLITRK5):c.2551G>A (p.Ala851Thr)	SLITRK5 (A851T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527191	NM_001384609.1(SLITRK5):c.126T>G (p.Asp42Glu)	SLITRK5 (D42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518668	NM_001384609.1(SLITRK5):c.2437C>A (p.Leu813Met)	SLITRK5 (L813M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492768	NM_001384609.1(SLITRK5):c.805C>G (p.Arg269Gly)	SLITRK5 (R269G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462779	NM_001384609.1(SLITRK5):c.191G>C (p.Ser64Thr)	SLITRK5 (S64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403196	NM_001384609.1(SLITRK5):c.1681C>A (p.His561Asn)	SLITRK5 (H561N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362076	NM_001384609.1(SLITRK5):c.2269G>C (p.Gly757Arg)	SLITRK5 (G757R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360273	NM_001384609.1(SLITRK5):c.856A>G (p.Arg286Gly)	SLITRK5 (R286G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338250	NM_001384609.1(SLITRK5):c.828C>A (p.Asp276Glu)	SLITRK5 (D276E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336506	NM_001384609.1(SLITRK5):c.2642C>T (p.Pro881Leu)	SLITRK5 (P881L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330604	NM_001384609.1(SLITRK5):c.1373A>G (p.Asn458Ser)	SLITRK5 (N458S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327796	NM_001384609.1(SLITRK5):c.2164G>T (p.Gly722Cys)	SLITRK5 (G722C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320416	NM_001384609.1(SLITRK5):c.2234C>T (p.Ala745Val)	SLITRK5 (A745V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306762	NM_001384609.1(SLITRK5):c.2364C>G (p.Ser788Arg)	SLITRK5 (S788R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303370	NM_001384609.1(SLITRK5):c.2659T>A (p.Tyr887Asn)	SLITRK5 (Y887N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297723	NM_001384609.1(SLITRK5):c.652G>A (p.Val218Met)	SLITRK5 (V218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294533	NM_001384609.1(SLITRK5):c.1195G>C (p.Glu399Gln)	SLITRK5 (E399Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291204	NM_001384609.1(SLITRK5):c.1799A>G (p.Glu600Gly)	SLITRK5 (E600G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279323	NM_001384609.1(SLITRK5):c.2593T>C (p.Cys865Arg)	SLITRK5 (C865R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271156	NM_001384609.1(SLITRK5):c.2023A>C (p.Ile675Leu)	SLITRK5 (I675L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263403	NM_001384609.1(SLITRK5):c.1753G>A (p.Val585Ile)	SLITRK5 (V585I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262310	NM_001384609.1(SLITRK5):c.1130C>T (p.Ala377Val)	SLITRK5 (A377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252189	NM_001384609.1(SLITRK5):c.19C>T (p.Pro7Ser)	SLITRK5 (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249094	NM_001384609.1(SLITRK5):c.568T>C (p.Ser190Pro)	SLITRK5 (S190P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245518	NM_001384609.1(SLITRK5):c.443C>A (p.Thr148Asn)	SLITRK5 (T148N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239419	NM_001384609.1(SLITRK5):c.2525A>C (p.Glu842Ala)	SLITRK5 (E842A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213715	NM_001384609.1(SLITRK5):c.2228C>T (p.Thr743Met)	SLITRK5 (T743M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809125	GRCh37/hg19 13q31.1-31.3(chr13:86667980-91833689)x1	MIR4500HG, SLITRK5	Copy number loss	not provided	GUncertain significance
Select item 1808965	GRCh37/hg19 13q31.1-31.3(chr13:85665879-90460716)x3	MIR4500HG, SLITRK5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic

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