"Ambry Genetics"[submitter] AND "KLLN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2263383	NM_001126049.2(KLLN):c.368G>A (p.Arg123His)	KLLN (R123H)	Single nucleotide variant (missense variant)	not specified	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 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 3115901	NM_001126049.2(KLLN):c.206T>C (p.Leu69Pro)	KLLN, LOC130004271 (L69P)	Single nucleotide variant (missense 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 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 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 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 3115902	NM_001126049.2(KLLN):c.22T>A (p.Ser8Thr)	KLLN (S8T)	Single nucleotide variant (missense 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)	Hereditary cancer-predisposing syndrome +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 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 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 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)	Hereditary cancer-predisposing syndrome +2 more	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 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 186991	NM_000314.4(PTEN):c.-1216C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 142999	NM_000314.4(PTEN):c.-1214T>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1750483	NM_000314.5(PTEN):c.-1211C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 189433	NM_001126049.2(KLLN):c.-794_-783del	KLLN, PTEN	Deletion (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 1746231	NM_000314.4(PTEN):c.-1197A>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 488900	NM_000314.4(PTEN):c.-1192C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 142982	NM_000314.4(PTEN):c.-1187_-1185delGCA	KLLN, PTEN	Microsatellite (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 127663	NM_001126049.2(KLLN):c.-792C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 818504	NM_000314.4(PTEN):c.-1180_-1164del17	KLLN, PTEN	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 142652	NM_000314.6(PTEN):c.-1179A>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142844	NM_001126049.2(KLLN):c.-806A>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Cowden syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 1739946	NM_000314.4(PTEN):c.-1172G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 488786	NM_000314.4(PTEN):c.-1172G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 141170	NM_000314.4(PTEN):c.-1172G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 140783	NC_000010.11:g.87863299C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 127662	NM_000314.6(PTEN):c.-1170C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 1738801	NM_000314.4(PTEN):c.-1168G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818474	NM_000314.4(PTEN):c.-1168G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822264	NM_000314.4(PTEN):c.-1165G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1736972	NM_000314.4(PTEN):c.-1161G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818444	NM_000314.4(PTEN):c.-1161_-1160delGGinsAA	KLLN, PTEN	Indel (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1736658	NM_000314.4(PTEN):c.-1160G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1734982	NM_000314.4(PTEN):c.-1154G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 187362	NM_000314.4(PTEN):c.-1154G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Macrocephaly-autism syndrome +8 more	GUncertain significance
Select item 1734359	NM_000314.4(PTEN):c.-1152C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818430	NM_000314.4(PTEN):c.-1152C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818427	NM_000314.4(PTEN):c.-1151C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818426	NM_000314.4(PTEN):c.-1151C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822248	NM_000314.4(PTEN):c.-1145A>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 187000	NM_000314.4(PTEN):c.-1145A>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 234867	NM_000314.4(PTEN):c.-1142C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 234632	NM_000314.4(PTEN):c.-1141_-1140delCC	KLLN, PTEN	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127661	NM_001126049.2(KLLN):c.-840G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 822240	NM_000314.4(PTEN):c.-1141C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1730126	NM_000314.4(PTEN):c.-1137G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141864	NM_001126049.2(KLLN):c.-845C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 142892	NM_000314.4(PTEN):c.-1133G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799026	NM_000314.4(PTEN):c.-1125G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799011	NM_000314.4(PTEN):c.-1125G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799002	NM_000314.4(PTEN):c.-1125G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798680	NM_000314.4(PTEN):c.-1124delG	KLLN, PTEN	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798720	NM_000314.4(PTEN):c.-1124G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822191	NM_000314.4(PTEN):c.-1108C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818366	NM_000314.4(PTEN):c.-1103G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 418430	NM_000314.4(PTEN):c.-1098G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 822160	NM_000314.4(PTEN):c.-1097G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822158	NM_000314.4(PTEN):c.-1096G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 189435	NM_000314.6(PTEN):c.-1088_-1063del26	KLLN, LOC130004273 +1 more	Deletion (5 prime UTR variant)	PTEN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 127660	NM_001126049.2(KLLN):c.-898G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 142058	NM_000314.4(PTEN):c.-1083G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818337	NM_000314.4(PTEN):c.-1080C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141604	NM_000314.6(PTEN):c.-1080C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 185541	NM_000314.4(PTEN):c.-1079C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 142097	NM_000314.4(PTEN):c.-1079C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141878	NM_000314.4(PTEN):c.-1076G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 488904	NM_000314.4(PTEN):c.-1070C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 141628	NM_000314.4(PTEN):c.-1070C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance

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