"PreventionGenetics, part of Exact Sciences"[submitter] AND "KCNQ1-AS1 - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163743	NM_000218.3(KCNQ1):c.1795-5C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 227462	NM_000218.3(KCNQ1):c.1795-4G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	KCNQ1-related disorder +3 more	GLikely benign
Select item 67057	NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met)	KCNQ1, KCNQ1-AS1 (T600M +5 more)	Single nucleotide variant (missense variant)	KCNQ1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 519273	NM_000218.3(KCNQ1):c.1827C>T (p.Ile609=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	KCNQ1-related disorder +2 more	GLikely benign
Select item 138007	NM_000218.3(KCNQ1):c.1860C>T (p.His620=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	KCNQ1-related disorder +5 more	GBenign/Likely benign
Select item 237226	NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 53025	NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)	KCNQ1, KCNQ1-AS1 (P631fs +1 more)	Deletion (frameshift variant)	KCNQ1-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 42489	NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +9 more	GBenign
Select item 918270	NM_000218.3(KCNQ1):c.*4G>A	KCNQ1-AS1, KCNQ1	Single nucleotide variant (3 prime UTR variant)	Cardiac arrhythmia +1 more	GConflicting classifications of pathogenicity