ClinVar for Gene (Select 100144748) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3366332	NM_000314.8(PTEN):c.-1217C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3354440	NC_000010.11:g.87863409C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN-related disorder	GLikely benign
Select item 3340045	NM_000314.8(PTEN):c.-1223C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3339548	NM_000314.8(PTEN):c.-1002C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 3289097	NM_001126049.2(KLLN):c.263C>T (p.Ser88Phe)	KLLN (S88F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3251580	NM_000314.8(PTEN):c.-1060C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3244887	NC_000010.10:g.(?_88514773)_(89725229_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3244884	NC_000010.10:g.(?_89621800)_(89653876_?)dup	KLLN, PTEN	Duplication	PTEN hamartoma tumor 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 3115906	NM_001126049.2(KLLN):c.95T>C (p.Leu32Pro)	KLLN (L32P)	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 3115904	NM_001126049.2(KLLN):c.442T>C (p.Cys148Arg)	KLLN (C148R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3115902	NM_001126049.2(KLLN):c.22T>A (p.Ser8Thr)	KLLN (S8T)	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 3115900	NM_001126049.2(KLLN):c.154G>A (p.Asp52Asn)	KLLN, LOC130004271 (D52N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
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 3046566	NC_000010.11:g.87863301G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN-related disorder	GLikely benign
Select item 3046404	NM_001126049.2(KLLN):c.294_295insGGT (p.Trp98_Cys99insGly)	KLLN, LOC130004270	Insertion	KLLN-related disorder	GLikely benign
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2683786	NM_000314.8(PTEN):c.-1151C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2682053	NM_000314.4(PTEN):c.-1223del	KLLN, PTEN	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 2627357	NM_000314.8(PTEN):c.-1012T>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2581703	NM_000314.6(PTEN):c.-942G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2576894	NM_000314.6(PTEN):c.-940C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2573390	NM_000314.6(PTEN):c.-1030C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR 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 2506740	NM_000314.6(PTEN):c.-956G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	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 2464979	NM_001126049.2(KLLN):c.488A>T (p.Lys163Ile)	KLLN (K163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443674	NM_000314.6(PTEN):c.-950G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	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 2422866	NC_000010.10:g.(?_89514444)_(90537999_?)del	ATAD1, KLLN +6 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2422865	NC_000010.10:g.(?_88428449)_(89725229_?)del	ADIRF, ADIRF-AS1 +14 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2422864	NC_000010.10:g.(?_89621800)_(89725321_?)del	KLLN, PTEN	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2422863	NC_000010.10:g.(?_89621946)_(89623527_?)dup	KLLN, PTEN	Duplication	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2422862	NC_000010.10:g.(?_89621800)_(89685324_?)del	KLLN, PTEN	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
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 2324569	NM_001126049.2(KLLN):c.431G>A (p.Arg144His)	KLLN (R144H)	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 2283996	NM_001126049.2(KLLN):c.89G>A (p.Arg30Lys)	KLLN (R30K)	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 2231239	NM_001126049.2(KLLN):c.62G>A (p.Arg21Gln)	KLLN (R21Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
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 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 1798680	NM_000314.4(PTEN):c.-1124delG	KLLN, PTEN	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1782043	NM_000314.4(PTEN):c.-1067_-1038del30	KLLN, LOC130004273 +1 more	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781334	NM_000314.6(PTEN):c.-1005C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781264	NM_000314.6(PTEN):c.-1005C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780154	NM_000314.4(PTEN):c.-1060C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1776391	NM_000314.4(PTEN):c.-1049C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GBenign
Select item 1775997	NM_000314.4(PTEN):c.-1048C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1775785	NM_000314.4(PTEN):c.-1047C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1775469	NM_000314.4(PTEN):c.-1046C>A	KLLN, LOC130004273 +1 more	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 1771240	NM_000314.6(PTEN):c.-1031C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1769634	NM_000314.6(PTEN):c.-1026C>T	KLLN, LOC130004273 +1 more	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 1768384	NM_000314.6(PTEN):c.-984C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1768282	NM_000314.6(PTEN):c.-980C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1768056	NM_000314.6(PTEN):c.-973_-867del107	KLLN, LOC130004273 +1 more	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767981	NM_000314.6(PTEN):c.-971T>G	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767838	NM_000314.6(PTEN):c.-969C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767592	NM_000314.6(PTEN):c.-961C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767559	NM_000314.6(PTEN):c.-960C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767553	NM_000314.6(PTEN):c.-960C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767452	NM_000314.6(PTEN):c.-957G>T	KLLN, LOC130004273 +1 more	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 1767282	NM_000314.6(PTEN):c.-952C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1761113	NM_000314.6(PTEN):c.-1021C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	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 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 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 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 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 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 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 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 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 1727437	NM_000314.6(PTEN):c.-1010C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1710863	NM_000314.6(PTEN):c.-938G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 1685530	NM_001126049.2(KLLN):c.80G>C (p.Arg27Pro)	KLLN (R27P)	Single nucleotide variant (missense variant)	not specified	GBenign
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 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 1459303	NC_000010.10:g.(?_89622928)_(89725229_?)del	KLLN, PTEN	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 1454865	NC_000010.10:g.(?_89621800)_(89624340_?)del	KLLN, PTEN	Deletion	PTEN hamartoma tumor syndrome	GPathogenic

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