"PreventionGenetics, part of Exact Sciences"[submitter] AND "DCLRE1B"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 533709	NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala)	DCLRE1B (E73A)	Single nucleotide variant (missense variant +1 more)	Hoyeraal-Hreidarsson syndrome +2 more	GUncertain significance
Select item 465150	NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=)	DCLRE1B	Single nucleotide variant (synonymous variant +1 more)	Hoyeraal-Hreidarsson syndrome +2 more	GLikely benign
Select item 1146893	NM_022836.4(DCLRE1B):c.771A>G (p.Thr257=)	DCLRE1B	Single nucleotide variant (synonymous variant)	Autosomal recessive dyskeratosis congenita +2 more	GLikely benign
Select item 533714	NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys)	DCLRE1B (R283C +1 more)	Single nucleotide variant (missense variant)	Hoyeraal-Hreidarsson syndrome +2 more	GLikely benign
Select item 3040486	NM_022836.4(DCLRE1B):c.1362G>A (p.Gly454=)	DCLRE1B	Single nucleotide variant (synonymous variant +1 more)	DCLRE1B-related disorder	GLikely benign
Select item 533713	NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr)	DCLRE1B (N510Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hoyeraal-Hreidarsson syndrome +2 more	GBenign
Select item 3039690	NM_022836.4(DCLRE1B):c.1545G>T (p.Gly515=)	DCLRE1B (V292L +1 more)	Single nucleotide variant (synonymous variant +1 more)	DCLRE1B-related disorder	GLikely benign

ClinVar