"Genome-Nilou Lab"[submitter] AND "RECQL4"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1280172	NM_004260.4(RECQL4):c.3502+24G>A	RECQL4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 94894	NM_004260.4(RECQL4):c.3393+8C>T	RECQL4	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 94893	NM_004260.4(RECQL4):c.3236+13C>T	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome +4 more	GBenign
Select item 167573	NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +4 more	GBenign
Select item 94891	NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln)	RECQL4 (R1005Q)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 1327943	NM_004260.4(RECQL4):c.2296del (p.Arg766fs)	RECQL4 (R766fs)	Deletion (frameshift variant)	Rapadilino syndrome +2 more	GBenign
Select item 94886	NM_004260.4(RECQL4):c.1621-15C>T	RECQL4	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 94884	NM_004260.4(RECQL4):c.1258+18G>A	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome +4 more	GBenign
Select item 94898	NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp)	RECQL4 (E267D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 94897	NM_004260.4(RECQL4):c.738C>T (p.Ser246=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +4 more	GBenign
Select item 135161	NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro)	RECQL4	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 94885	NM_004260.4(RECQL4):c.132A>G (p.Glu44=)	RECQL4, LOC130001411	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign