"Genetic Services Laboratory, University of Chicago"[submitter] AND "K - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1337289	NM_001126049.2(KLLN):c.518A>G (p.Lys173Arg)	KLLN, PTEN (K173R)	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
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
Select item 1337567	NM_001126049.2(KLLN):c.384C>T (p.Arg128=)	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 provided +2 more	GBenign
Select item 1336143	NM_001126049.2(KLLN):c.342_343del (p.Ala115fs)	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)	KLLN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1336732	NM_001126049.2(KLLN):c.235C>A (p.Pro79Thr)	KLLN, PTEN (P79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336731	NM_001126049.2(KLLN):c.234C>A (p.Leu78=)	KLLN, PTEN	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1338182	NM_001126049.2(KLLN):c.204C>T (p.Ser68=)	KLLN, LOC130004271 +1 more	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1338012	NM_001126049.2(KLLN):c.131G>C (p.Gly44Ala)	KLLN, PTEN (G44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337958	NM_001126049.2(KLLN):c.130G>C (p.Gly44Arg)	KLLN, PTEN (G44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337428	NM_001126049.2(KLLN):c.66T>A (p.Val22=)	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 1337087	NM_001126049.2(KLLN):c.58T>C (p.Tyr20His)	KLLN, PTEN (Y20H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1337086	NM_001126049.2(KLLN):c.57T>C (p.Gly19=)	KLLN, PTEN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1337796	NM_001126049.2(KLLN):c.17C>T (p.Pro6Leu)	KLLN, PTEN (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 142652	NM_001126049.2(KLLN):c.-803T>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GUncertain significance
Select item 1337509	NM_001126049.2(KLLN):c.-808G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 420807	NM_001126049.2(KLLN):c.-950G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 418431	NM_001126049.2(KLLN):c.-951G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 183706	NM_001126049.2(KLLN):c.-955G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 138836	NM_001126049.2(KLLN):c.-956G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 127684	NM_001126049.2(KLLN):c.-1007C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 488998	NM_001126049.2(KLLN):c.-1027G>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 488769	NM_000314.6(PTEN):c.-859A>G	KLLN, LOC130004273 +1 more	Single nucleotide variant	Cowden syndrome 1 +7 more	GUncertain significance

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Items: 27