ClinVar for Gene (Select 4058) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292290	NM_002344.6(LTK):c.1652C>G (p.Ser551Trp)	LTK (S551W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292289	NM_002344.6(LTK):c.749C>T (p.Ala250Val)	LTK (A250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292288	NM_002344.6(LTK):c.2245C>T (p.Pro749Ser)	LTK (P688S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292287	NM_002344.6(LTK):c.1393C>A (p.Pro465Thr)	LTK (P465T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292286	NM_002344.6(LTK):c.1843C>G (p.Leu615Val)	LTK (L615V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292285	NM_002344.6(LTK):c.844C>G (p.Pro282Ala)	LTK (P282A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3121498	NM_002344.6(LTK):c.914C>T (p.Ala305Val)	LTK (A305V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121497	NM_002344.6(LTK):c.608G>T (p.Arg203Leu)	LTK (R203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121495	NM_002344.6(LTK):c.548C>T (p.Ser183Phe)	LTK (S183F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121494	NM_002344.6(LTK):c.49A>G (p.Ile17Val)	LTK (I17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121493	NM_002344.6(LTK):c.322G>T (p.Val108Leu)	LTK (V108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121492	NM_002344.6(LTK):c.308G>A (p.Gly103Glu)	LTK (G103E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121491	NM_002344.6(LTK):c.2222G>A (p.Arg741Gln)	LTK (R680Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121490	NM_002344.6(LTK):c.1973G>C (p.Arg658Pro)	LTK (R528P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121489	NM_002344.6(LTK):c.1916T>A (p.Phe639Tyr)	LTK (F509Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121488	NM_002344.6(LTK):c.1852C>T (p.Arg618Trp)	LTK (R557W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121487	NM_002344.6(LTK):c.1757G>A (p.Arg586His)	LTK (R586H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121486	NM_002344.6(LTK):c.152G>T (p.Ser51Ile)	LTK (S51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121485	NM_002344.6(LTK):c.1509C>G (p.Thr503=)	LTK (R404G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3121484	NM_002344.6(LTK):c.1468C>T (p.Leu490Phe)	LTK (A390V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121483	NM_002344.6(LTK):c.129C>G (p.Asp43Glu)	LTK (D43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2601751	NM_002344.6(LTK):c.2360T>C (p.Leu787Pro)	LTK (L787P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600168	NM_002344.6(LTK):c.1127G>C (p.Arg376Pro)	LTK (R315P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597953	NM_002344.6(LTK):c.482G>T (p.Gly161Val)	LTK (G161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594527	NM_002344.6(LTK):c.710G>C (p.Arg237Pro)	LTK (R237P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568464	NM_002344.6(LTK):c.755C>G (p.Pro252Arg)	LTK (P252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552232	NM_002344.6(LTK):c.1751C>A (p.Thr584Asn)	LTK (T454N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549391	NM_002344.6(LTK):c.2053C>T (p.Leu685Phe)	LTK (L555F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539692	NM_002344.6(LTK):c.2330T>C (p.Leu777Pro)	LTK (L647P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536837	NM_002344.6(LTK):c.2333A>G (p.Gln778Arg)	LTK (Q648R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533716	NM_002344.6(LTK):c.718C>G (p.Leu240Val)	LTK (L240V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519243	NM_002344.6(LTK):c.895G>A (p.Gly299Ser)	LTK (G299S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483444	NM_002344.6(LTK):c.662G>C (p.Arg221Pro)	LTK (R221P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477897	NM_002344.6(LTK):c.413G>A (p.Arg138Gln)	LTK (R138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475640	NM_002344.6(LTK):c.2044C>G (p.Arg682Gly)	LTK (R552G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468853	NM_002344.6(LTK):c.2261G>A (p.Arg754His)	LTK (R754H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463295	NM_002344.6(LTK):c.1723C>T (p.Arg575Trp)	LTK (R514W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454859	NM_002344.6(LTK):c.2326C>T (p.Arg776Cys)	LTK (R646C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410506	NM_002344.6(LTK):c.40G>T (p.Ala14Ser)	LTK (A14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407043	NM_002344.6(LTK):c.1756C>G (p.Arg586Gly)	LTK (R586G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406243	NM_002344.6(LTK):c.2351C>T (p.Pro784Leu)	LTK (P654L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405791	NM_002344.6(LTK):c.958G>A (p.Gly320Arg)	LTK (G320R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405104	NM_002344.6(LTK):c.652T>A (p.Phe218Ile)	LTK (F218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401065	NM_002344.6(LTK):c.2153C>T (p.Ser718Leu)	LTK (S588L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400351	NM_002344.6(LTK):c.1967C>T (p.Pro656Leu)	LTK (P526L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396130	NM_002344.6(LTK):c.607C>T (p.Arg203Cys)	LTK (R203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380948	NM_002344.6(LTK):c.121C>T (p.Pro41Ser)	LTK (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365601	NM_002344.6(LTK):c.2045G>A (p.Arg682Gln)	LTK (R552Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356714	NM_002344.6(LTK):c.1654C>T (p.Pro552Ser)	LTK (P422S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352888	NM_002344.6(LTK):c.143C>T (p.Ala48Val)	LTK (A48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351652	NM_002344.6(LTK):c.2221C>T (p.Arg741Trp)	LTK (R611W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348816	NM_002344.6(LTK):c.2206G>A (p.Val736Ile)	LTK (V675I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346043	NM_002344.6(LTK):c.62G>A (p.Ser21Asn)	LTK (S21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341661	NM_002344.6(LTK):c.2180G>A (p.Arg727His)	LTK (R597H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340990	NM_002344.6(LTK):c.1111G>A (p.Gly371Arg)	LTK (G371R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319952	NM_002344.6(LTK):c.334C>T (p.Arg112Cys)	LTK (R112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319251	NM_002344.6(LTK):c.1936G>A (p.Ala646Thr)	LTK (A585T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309142	NM_002344.6(LTK):c.233G>A (p.Arg78Gln)	LTK (R78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308104	NM_002344.6(LTK):c.254A>C (p.Gln85Pro)	LTK (Q85P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272669	NM_002344.6(LTK):c.1562T>C (p.Phe521Ser)	LTK (F460S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259818	NM_002344.6(LTK):c.1594C>G (p.Leu532Val)	LTK (L471V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253410	NM_002344.6(LTK):c.415G>A (p.Ala139Thr)	LTK (A139T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252136	NM_002344.6(LTK):c.508G>A (p.Gly170Arg)	LTK (G170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248584	NM_002344.6(LTK):c.550C>G (p.Arg184Gly)	LTK (R184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239409	NM_002344.6(LTK):c.2111C>T (p.Thr704Ile)	LTK (T643I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214606	NM_002344.6(LTK):c.1958G>A (p.Cys653Tyr)	LTK (C592Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211670	NM_002344.6(LTK):c.30G>C (p.Trp10Cys)	LTK (W10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211516	NM_002344.6(LTK):c.1556G>A (p.Gly519Asp)	LTK (G519D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 789531	NM_002344.6(LTK):c.2437G>T (p.Glu813Ter)	LTK (E752* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 784615	NM_002344.6(LTK):c.1705C>A (p.Arg569Ser)	LTK (R439S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726642	NM_002344.6(LTK):c.1170A>G (p.Gln390=)	LTK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 623866	NM_002344.6(LTK):c.203G>T (p.Trp68Leu)	LTK (W68L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623865	NM_002344.6(LTK):c.2447G>C (p.Arg816Thr)	LTK (R686T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 84