"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135154	NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His)	RECQL4 (Q1145H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 259260	NM_004260.4(RECQL4):c.3393+9A>G	RECQL4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 135151	NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp)	RECQL4 (G1105D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135147	NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)	RECQL4 (R1021Q)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +5 more	GConflicting classifications of pathogenicity
Select item 239751	NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)	RECQL4 (M989I)	Single nucleotide variant (missense variant)	Rapadilino syndrome +4 more	GUncertain significance
Select item 239747	NM_004260.4(RECQL4):c.2817G>A (p.Ala939=)	RECQL4	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 2 +3 more	GBenign/Likely benign
Select item 1175167	NM_004260.4(RECQL4):c.2463+18_2463+19del	RECQL4	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 239728	NM_004260.4(RECQL4):c.2460C>T (p.Pro820=)	RECQL4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 193964	NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)	RECQL4 (V652M)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +5 more	GConflicting classifications of pathogenicity
Select item 193669	NM_004260.4(RECQL4):c.1704+9C>T	RECQL4	Single nucleotide variant (intron variant)	RECQL4-related condition +4 more	GBenign/Likely benign
Select item 135176	NM_004260.4(RECQL4):c.1565G>A (p.Arg522His)	RECQL4 (R522H)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +3 more	GBenign
Select item 239696	NM_004260.4(RECQL4):c.1390+3G>A	RECQL4	Single nucleotide variant (intron variant)	Rothmund-Thomson syndrome type 2 +4 more	GBenign/Likely benign
Select item 259257	NM_004260.4(RECQL4):c.1258+6A>T	RECQL4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 135166	NM_004260.4(RECQL4):c.1090G>A (p.Val364Met)	RECQL4 (V364M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 135164	NM_004260.4(RECQL4):c.716C>T (p.Ala239Val)	RECQL4 (A239V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 239780	NM_004260.4(RECQL4):c.615C>G (p.Pro205=)	RECQL4	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 239756	NM_004260.4(RECQL4):c.309G>A (p.Pro103=)	RECQL4	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 2 +3 more	GBenign/Likely benign
Select item 135158	NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly)	RECQL4 (E71G)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +5 more	GBenign
Select item 135157	NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg)	LOC130001411, RECQL4 (Q54R)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +4 more	GBenign/Likely benign