KLLN[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 365

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 661198	NC_000010.11:g.(?_86755016)_(87965482_?)del	ADIRF, ADIRF-AS1 +61 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 646972	NC_000010.11:g.(?_86838866)_(87965482_?)del	ADIRF, ADIRF-AS1 +60 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 660158	NC_000010.11:g.(?_86875868)_(87894129_?)del	ADIRF, ADIRF-AS1 +57 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 523155	GRCh38/hg38 10q23.31(chr10:87830830-88617225)x1	LOC130004269, LOC130004270 +23 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 1683533	NM_001126049.2(KLLN):c.526C>A (p.Pro176Thr)	KLLN (P176T)	Single nucleotide variant (missense variant)	Cowden syndrome 4	GUncertain significance
Select item 1337289	NM_000314.4(PTEN):c.-2500_-2499delinsCC	KLLN, PTEN (K173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115905	NM_001126049.2(KLLN):c.499C>T (p.Leu167Phe)	KLLN (L167F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464979	NM_001126049.2(KLLN):c.488A>T (p.Lys163Ile)	KLLN (K163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492881	NM_001126049.2(KLLN):c.460C>T (p.Leu154Phe)	KLLN (L154F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337818	NM_001126049.2(KLLN):c.445T>A (p.Trp149Arg)	KLLN, PTEN (W149R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3115904	NM_001126049.2(KLLN):c.442T>C (p.Cys148Arg)	KLLN (C148R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324569	NM_001126049.2(KLLN):c.431G>A (p.Arg144His)	KLLN (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337856	NM_001126049.2(KLLN):c.392A>G (p.Asn131Ser)	KLLN, PTEN (N131S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1337567	NM_000314.4(PTEN):c.-2365G>A	KLLN, PTEN	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1174734	NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly)	KLLN, PTEN (R128G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2263383	NM_001126049.2(KLLN):c.368G>A (p.Arg123His)	KLLN (R123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336143	NM_000314.6(PTEN):c.-2322_-2321del	KLLN, PTEN (A115fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 717443	NM_001126049.2(KLLN):c.339_340del (p.Ala115fs)	KLLN, PTEN (A115fs)	Deletion (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 802601	NM_001126049.2(KLLN):c.316C>A (p.Pro106Thr)	KLLN, LOC130004270 (P106T)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2253313	NM_001126049.2(KLLN):c.296G>A (p.Cys99Tyr)	KLLN, LOC130004270 (C99Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046404	NM_001126049.2(KLLN):c.294_295insGGT (p.Trp98_Cys99insGly)	KLLN, LOC130004270	Insertion	KLLN-related disorder	GLikely benign
Select item 3289097	NM_001126049.2(KLLN):c.263C>T (p.Ser88Phe)	KLLN (S88F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3289098	NM_001126049.2(KLLN):c.253G>A (p.Gly85Ser)	KLLN (G85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115903	NM_001126049.2(KLLN):c.239G>A (p.Ser80Asn)	KLLN (S80N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336732	NM_000314.6(PTEN):c.-2216G>T	KLLN, PTEN (P79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336731	NM_000314.4(PTEN):c.-2215G>T	KLLN, PTEN	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1683532	NM_001126049.2(KLLN):c.226T>C (p.Phe76Leu)	KLLN, LOC130004271 (F76L)	Single nucleotide variant (missense variant)	Cowden syndrome 4	GUncertain significance
Select item 3115901	NM_001126049.2(KLLN):c.206T>C (p.Leu69Pro)	KLLN, LOC130004271 (L69P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338182	NM_000314.8(PTEN):c.-2186G>A	KLLN, LOC130004271 +1 more	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2532475	NM_001126049.2(KLLN):c.191G>A (p.Arg64Lys)	KLLN, LOC130004271 (R64K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2433170	NM_001126049.2(KLLN):c.184C>G (p.Arg62Gly)	KLLN, LOC130004271 (R62G)	Single nucleotide variant (missense variant)	Cowden syndrome 4	GUncertain significance
Select item 2221173	NM_001126049.2(KLLN):c.182T>G (p.Phe61Cys)	KLLN, LOC130004271 (F61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353049	NM_001126049.2(KLLN):c.167C>G (p.Thr56Arg)	KLLN, LOC130004271 (T56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115900	NM_001126049.2(KLLN):c.154G>A (p.Asp52Asn)	KLLN, LOC130004271 (D52N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 445578	NM_001126049.2(KLLN):c.137T>G (p.Phe46Cys)	KLLN (F46C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338012	NM_000314.7(PTEN):c.-2112C>G	KLLN, PTEN (G44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337958	NM_000314.4(PTEN):c.-2111C>G	KLLN, PTEN (G44R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3047830	NM_001126049.2(KLLN):c.115G>A (p.Gly39Arg)	KLLN (G39R)	Single nucleotide variant (missense variant)	KLLN-related disorder	GLikely benign
Select item 2288316	NM_001126049.2(KLLN):c.104G>C (p.Ser35Thr)	KLLN (S35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288315	NM_001126049.2(KLLN):c.103A>C (p.Ser35Arg)	KLLN (S35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115906	NM_001126049.2(KLLN):c.95T>C (p.Leu32Pro)	KLLN (L32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283996	NM_001126049.2(KLLN):c.89G>A (p.Arg30Lys)	KLLN (R30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685530	NM_001126049.2(KLLN):c.80G>C (p.Arg27Pro)	KLLN (R27P)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 735811	NM_001126049.2(KLLN):c.69G>A (p.Glu23=)	KLLN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337428	NM_000314.6(PTEN):c.-2047A>T	KLLN, PTEN	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1337427	NM_001126049.2(KLLN):c.65T>A (p.Val22Asp)	KLLN, PTEN (V22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231239	NM_001126049.2(KLLN):c.62G>A (p.Arg21Gln)	KLLN (R21Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1337087	NM_000314.6(PTEN):c.-2039A>G	KLLN, PTEN (Y20H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1337086	NM_000314.4(PTEN):c.-2038A>G	KLLN, PTEN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3115902	NM_001126049.2(KLLN):c.22T>A (p.Ser8Thr)	KLLN (S8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337796	NM_000314.4(PTEN):c.-1998G>A	KLLN, PTEN (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 189461	NM_000314.4(PTEN):c.-1341G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488770	NM_000314.6(PTEN):c.-1338T>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488849	NM_000314.4(PTEN):c.-1335G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503507	NM_000314.4(PTEN):c.-1330A>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 503638	NM_000314.4(PTEN):c.-1324C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488905	NM_000314.4(PTEN):c.-1321C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 127667	NM_000314.6(PTEN):c.-1311T>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GBenignFDA Recognized database
Select item 488761	NM_000314.4(PTEN):c.-1310C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 583889	NC_000010.10:g.(?_89622918)_(89624325_?)dup	KLLN, LOC130004273 +2 more	Duplication	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 488860	NM_000314.4(PTEN):c.-1307C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 439287	NM_000314.4(PTEN):c.-1305T>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 488886	NM_000314.4(PTEN):c.-1301T>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 584299	NC_000010.11:g.(?_87863171)_(87864558_?)del	KLLN, LOC130004273 +2 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 488783	NM_000314.4(PTEN):c.-1298T>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488754	NM_000314.4(PTEN):c.-1295G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488713	NC_000010.11:g.87863176C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 234639	NM_000314.4(PTEN):c.-1290C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 801274	NM_000314.4(PTEN):c.-1284dup	KLLN, PTEN	Duplication (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 488910	NM_000314.4(PTEN):c.-1287C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 141821	NM_000314.4(PTEN):c.-1287C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1768975	NM_000314.4(PTEN):c.-1286C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818802	NM_000314.4(PTEN):c.-1285C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818794	NM_000314.4(PTEN):c.-1284C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767362	NM_000314.4(PTEN):c.-1279dupC	KLLN, PTEN	Duplication (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 488901	NM_000314.4(PTEN):c.-1281C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1767308	NM_000314.4(PTEN):c.-1279C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 488934	NM_000314.4(PTEN):c.-1275A>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 503639	NM_000314.4(PTEN):c.-1266C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 492717	NC_000010.11:g.87863207G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 818721	NM_000314.4(PTEN):c.-1261C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3220666	NM_000314.4(PTEN):c.-1258C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141062	NM_000314.4(PTEN):c.-1256G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1771406	NM_000314.4(PTEN):c.-1032-222_-366del889	KLLN, LOC130004273 +2 more	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 189445	NM_000314.4(PTEN):c.-1248dupT	KLLN, PTEN	Duplication (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 488964	NM_000314.4(PTEN):c.-1246C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Macrocephaly-autism syndrome +7 more	GUncertain significance
Select item 818681	NM_000314.4(PTEN):c.-1243delG	KLLN, PTEN	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 127666	NM_000314.6(PTEN):c.-1243G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN-related disorder +2 more	GUncertain significance
Select item 189522	NM_000314.4(PTEN):c.-1242G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 488776	NM_000314.4(PTEN):c.-1240A>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3366604	NM_000314.8(PTEN):c.-1240G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 818672	NM_000314.4(PTEN):c.-1237G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818671	NM_000314.4(PTEN):c.-1237G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 186644	NM_000314.4(PTEN):c.-1235C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 127665	NM_000314.5(PTEN):c.-1235C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 234894	NC_000010.11:g.87863235C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 189526	NM_000314.4(PTEN):c.-1234C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1755736	NM_000314.4(PTEN):c.-1231G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 488867	NM_000314.4(PTEN):c.-1226A>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance

<< First< Prev

Page of 4