"PreventionGenetics, part of Exact Sciences"[submitter] AND "RECQL"[ge - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 954936	NM_002907.4(RECQL):c.1675T>A (p.Tyr559Asn)	PYROXD1, RECQL (Y559N)	Single nucleotide variant (missense variant +1 more)	RECQL-related disorder +2 more	GUncertain significance
Select item 864207	NM_002907.4(RECQL):c.1649T>A (p.Leu550Gln)	RECQL (L550Q)	Single nucleotide variant (missense variant)	RECQL-related disorder +2 more	GUncertain significance
Select item 1116819	NM_002907.4(RECQL):c.1631A>T (p.Lys544Met)	RECQL (K544M)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 514529	NM_002907.4(RECQL):c.1590A>G (p.Ala530=)	RECQL	Single nucleotide variant (synonymous variant)	RECQL-related disorder +1 more	GLikely benign
Select item 506630	NM_002907.4(RECQL):c.1483G>C (p.Asp495His)	RECQL (D495H)	Single nucleotide variant (missense variant)	RECQL-related disorder +4 more	GBenign/Likely benign
Select item 545999	NM_002907.4(RECQL):c.1219C>T (p.Arg407Ter)	RECQL (R407*)	Single nucleotide variant (nonsense)	RECQL-related disorder +2 more	GUncertain significance
Select item 515023	NM_002907.4(RECQL):c.1215A>C (p.Ala405=)	RECQL	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 668440	NM_002907.4(RECQL):c.1107G>A (p.Val369=)	RECQL	Single nucleotide variant (synonymous variant)	RECQL-related disorder +2 more	GLikely benign
Select item 515568	NM_002907.4(RECQL):c.1020T>C (p.His340=)	RECQL	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 966068	NM_002907.4(RECQL):c.962G>A (p.Cys321Tyr)	RECQL (C321Y)	Single nucleotide variant (missense variant)	RECQL-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1062979	NM_002907.4(RECQL):c.867+3A>T	RECQL	Single nucleotide variant (intron variant)	RECQL-related disorder +1 more	GUncertain significance
Select item 584812	NM_002907.4(RECQL):c.809G>A (p.Cys270Tyr)	RECQL (C270Y)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1139016	NM_002907.4(RECQL):c.741C>T (p.Asn247=)	RECQL	Single nucleotide variant (synonymous variant)	RECQL-related disorder +1 more	GLikely benign
Select item 1670659	NM_002907.4(RECQL):c.735C>T (p.Phe245=)	RECQL	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1455125	NM_002907.4(RECQL):c.701-10_701-7del	RECQL	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1018574	NM_002907.4(RECQL):c.700+4T>A	RECQL	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1747721	NM_002907.4(RECQL):c.546C>T (p.Ser182=)	RECQL	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 584814	NM_002907.4(RECQL):c.518T>A (p.Val173Asp)	RECQL (V173D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 584820	NM_002907.4(RECQL):c.406G>A (p.Val136Ile)	RECQL (V136I)	Single nucleotide variant (missense variant)	Hereditary cancer +3 more	GConflicting classifications of pathogenicity
Select item 584821	NM_002907.4(RECQL):c.401C>T (p.Thr134Ile)	RECQL (T134I)	Single nucleotide variant (missense variant)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 3045963	NM_002907.4(RECQL):c.395-14_395-10dup	RECQL	Duplication (intron variant)	RECQL-related disorder	GLikely benign
Select item 1078025	NM_002907.4(RECQL):c.303C>T (p.Asn101=)	RECQL	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 516010	NM_002907.4(RECQL):c.198C>T (p.Ala66=)	RECQL	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 584825	NM_002907.4(RECQL):c.86C>T (p.Thr29Met)	RECQL (T29M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 730377	NM_002907.4(RECQL):c.2T>C (p.Met1Thr)	RECQL (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 25