"Ambry Genetics"[submitter] AND "SLITRK6"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166134	NM_032229.3(SLITRK6):c.2519A>G (p.Gln840Arg)	SLITRK6 (Q840R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 666921	NM_032229.3(SLITRK6):c.2506G>C (p.Val836Leu)	SLITRK6 (V836L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2337010	NM_032229.3(SLITRK6):c.2453A>G (p.Asn818Ser)	SLITRK6 (N818S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1492137	NM_032229.3(SLITRK6):c.2449A>G (p.Lys817Glu)	SLITRK6 (K817E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2588335	NM_032229.3(SLITRK6):c.2420G>A (p.Arg807His)	SLITRK6 (R807H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1197937	NM_032229.3(SLITRK6):c.2413T>C (p.Tyr805His)	SLITRK6 (Y805H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1423406	NM_032229.3(SLITRK6):c.2353G>C (p.Asp785His)	SLITRK6 (D785H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2459445	NM_032229.3(SLITRK6):c.2314A>T (p.Thr772Ser)	SLITRK6 (T772S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332958	NM_032229.3(SLITRK6):c.2222A>C (p.Asn741Thr)	SLITRK6 (N741T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328564	NM_032229.3(SLITRK6):c.2204T>C (p.Met735Thr)	SLITRK6 (M735T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1878810	NM_032229.3(SLITRK6):c.2131G>A (p.Gly711Arg)	SLITRK6 (G711R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2287020	NM_032229.3(SLITRK6):c.2118G>C (p.Arg706Ser)	SLITRK6 (R706S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166133	NM_032229.3(SLITRK6):c.2111A>G (p.Glu704Gly)	SLITRK6 (E704G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166132	NM_032229.3(SLITRK6):c.2101G>A (p.Glu701Lys)	SLITRK6 (E701K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527733	NM_032229.3(SLITRK6):c.2101G>C (p.Glu701Gln)	SLITRK6 (E701Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1443801	NM_032229.3(SLITRK6):c.2099T>C (p.Leu700Pro)	SLITRK6 (L700P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2322065	NM_032229.3(SLITRK6):c.2045T>C (p.Met682Thr)	SLITRK6 (M682T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462257	NM_032229.3(SLITRK6):c.1980G>A (p.Met660Ile)	SLITRK6 (M660I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234744	NM_032229.3(SLITRK6):c.1978A>C (p.Met660Leu)	SLITRK6 (M660L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166130	NM_032229.3(SLITRK6):c.1934A>T (p.Asp645Val)	SLITRK6 (D645V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321464	NM_032229.3(SLITRK6):c.1897C>T (p.Leu633Phe)	SLITRK6 (L633F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325562	NM_032229.3(SLITRK6):c.1876G>T (p.Ala626Ser)	SLITRK6 (A626S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166129	NM_032229.3(SLITRK6):c.1862T>C (p.Ile621Thr)	SLITRK6 (I621T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248660	NM_032229.3(SLITRK6):c.1840C>T (p.Leu614Phe)	SLITRK6 (L614F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327951	NM_032229.3(SLITRK6):c.1835T>C (p.Leu612Ser)	SLITRK6 (L612S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268211	NM_032229.3(SLITRK6):c.1796G>A (p.Arg599Gln)	SLITRK6 (R599Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1367369	NM_032229.3(SLITRK6):c.1751T>C (p.Val584Ala)	SLITRK6 (V584A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2555019	NM_032229.3(SLITRK6):c.1750G>A (p.Val584Ile)	SLITRK6 (V584I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364933	NM_032229.3(SLITRK6):c.1739G>C (p.Ser580Thr)	SLITRK6 (S580T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2249274	NM_032229.3(SLITRK6):c.1739G>A (p.Ser580Asn)	SLITRK6 (S580N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166127	NM_032229.3(SLITRK6):c.1703G>A (p.Gly568Asp)	SLITRK6 (G568D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1441114	NM_032229.3(SLITRK6):c.1697G>A (p.Cys566Tyr)	SLITRK6 (C566Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3166126	NM_032229.3(SLITRK6):c.1675G>A (p.Ala559Thr)	SLITRK6 (A559T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206513	NM_032229.3(SLITRK6):c.1665G>T (p.Lys555Asn)	SLITRK6 (K555N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395290	NM_032229.3(SLITRK6):c.1657G>A (p.Asp553Asn)	SLITRK6 (D553N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1199007	NM_032229.3(SLITRK6):c.1576G>A (p.Val526Ile)	SLITRK6 (V526I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3166125	NM_032229.3(SLITRK6):c.1573C>A (p.Leu525Met)	SLITRK6 (L525M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423909	NM_032229.3(SLITRK6):c.1535T>C (p.Ile512Thr)	SLITRK6 (I512T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3166124	NM_032229.3(SLITRK6):c.1463A>G (p.Asn488Ser)	SLITRK6 (N488S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166123	NM_032229.3(SLITRK6):c.1454C>T (p.Thr485Ile)	SLITRK6 (T485I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282000	NM_032229.3(SLITRK6):c.1445T>C (p.Val482Ala)	SLITRK6 (V482A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1198958	NM_032229.3(SLITRK6):c.1339A>C (p.Ile447Leu)	SLITRK6 (I447L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 718082	NM_032229.3(SLITRK6):c.1318T>G (p.Leu440Val)	SLITRK6 (L440V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3166122	NM_032229.3(SLITRK6):c.1313A>C (p.Glu438Ala)	SLITRK6 (E438A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476339	NM_032229.3(SLITRK6):c.1204C>T (p.Leu402Phe)	SLITRK6 (L402F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322187	NM_032229.3(SLITRK6):c.1204C>A (p.Leu402Ile)	SLITRK6 (L402I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355689	NM_032229.3(SLITRK6):c.1121T>C (p.Ile374Thr)	SLITRK6 (I374T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351562	NM_032229.3(SLITRK6):c.1105A>G (p.Ile369Val)	SLITRK6 (I369V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166121	NM_032229.3(SLITRK6):c.1084C>A (p.Pro362Thr)	SLITRK6 (P362T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237346	NM_032229.3(SLITRK6):c.1072C>G (p.Leu358Val)	SLITRK6 (L358V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462851	NM_032229.3(SLITRK6):c.1048C>G (p.Arg350Gly)	SLITRK6 (R350G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166140	NM_032229.3(SLITRK6):c.683A>T (p.Gln228Leu)	SLITRK6 (Q228L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166139	NM_032229.3(SLITRK6):c.620T>C (p.Ile207Thr)	SLITRK6 (I207T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166138	NM_032229.3(SLITRK6):c.559C>A (p.His187Asn)	SLITRK6 (H187N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228221	NM_032229.3(SLITRK6):c.527C>T (p.Pro176Leu)	SLITRK6 (P176L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602447	NM_032229.3(SLITRK6):c.475C>T (p.Leu159Phe)	SLITRK6 (L159F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166137	NM_032229.3(SLITRK6):c.461G>C (p.Ser154Thr)	SLITRK6 (S154T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616797	NM_032229.3(SLITRK6):c.431A>G (p.Asp144Gly)	SLITRK6 (D144G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285520	NM_032229.3(SLITRK6):c.397C>T (p.His133Tyr)	SLITRK6 (H133Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299045	NM_032229.3(SLITRK6):c.395T>G (p.Phe132Cys)	SLITRK6 (F132C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304452	NM_032229.3(SLITRK6):c.314T>C (p.Ile105Thr)	SLITRK6 (I105T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166135	NM_032229.3(SLITRK6):c.271A>G (p.Ile91Val)	SLITRK6 (I91V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623552	NM_032229.3(SLITRK6):c.197C>G (p.Pro66Arg)	SLITRK6 (P66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214907	NM_032229.3(SLITRK6):c.149C>A (p.Ala50Glu)	SLITRK6 (A50E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166120	NM_032229.3(SLITRK6):c.104G>A (p.Cys35Tyr)	SLITRK6 (C35Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166142	NM_032229.3(SLITRK6):c.89C>G (p.Ser30Cys)	SLITRK6 (S30C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166141	NM_032229.3(SLITRK6):c.74T>A (p.Leu25His)	SLITRK6 (L25H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 67