"Clingen PTEN Variant Curation Expert Panel, Clingen"[submitter] AND " - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 189520	NM_000314.6(PTEN):c.-1059C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
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 127685	NM_001126049.2(KLLN):c.-1007C>G	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 127682	NM_001126049.2(KLLN):c.-1039G>A	LOC130004273, PTEN +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 141717	NM_000314.6(PTEN):c.-930G>A	LOC130004273, PTEN	Single nucleotide variant	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 127681	NM_000314.6(PTEN):c.-909T>C	LOC130004273, PTEN	Single nucleotide variant	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 138837	NM_000314.6(PTEN):c.-903G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 7845	NM_000314.7(PTEN):c.-861G>T	LOC130004273, PTEN	Single nucleotide variant	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 189497	NM_000314.8(PTEN):c.-837C>T	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 127676	NM_000314.8(PTEN):c.-835C>T	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 234695	NM_000314.8(PTEN):c.-802G>A	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 127674	NM_000314.8(PTEN):c.-799G>C	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database