"PreventionGenetics, part of Exact Sciences"[submitter] AND "CRISPLD2" - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035723	NM_031476.4(CRISPLD2):c.65G>A (p.Gly22Asp)	CRISPLD2 (G22D)	Single nucleotide variant (missense variant)	CRISPLD2-related disorder	GLikely benign
Select item 3050229	NM_031476.4(CRISPLD2):c.81C>T (p.Asn27=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 3031415	NM_031476.4(CRISPLD2):c.207G>T (p.Gln69His)	CRISPLD2 (Q69H)	Single nucleotide variant (missense variant)	CRISPLD2-related disorder	GUncertain significance
Select item 3048863	NM_031476.4(CRISPLD2):c.306G>A (p.Gly102=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 3051548	NM_031476.4(CRISPLD2):c.360-7C>T	CRISPLD2	Single nucleotide variant (intron variant)	CRISPLD2-related disorder	GLikely benign
Select item 3049850	NM_031476.4(CRISPLD2):c.366C>T (p.Arg122=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 3044536	NM_031476.4(CRISPLD2):c.372G>C (p.Pro124=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 710712	NM_031476.4(CRISPLD2):c.432C>A (p.Ser144Arg)	CRISPLD2 (S144R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 777049	NM_031476.4(CRISPLD2):c.519C>T (p.Ile173=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder +1 more	GBenign
Select item 3048360	NM_031476.4(CRISPLD2):c.573G>A (p.Glu191=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 3046859	NM_031476.4(CRISPLD2):c.576C>T (p.Asn192=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 720481	NM_031476.4(CRISPLD2):c.681C>T (p.Gly227=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder +1 more	GBenign
Select item 3056972	NM_031476.4(CRISPLD2):c.709+7A>G	CRISPLD2	Single nucleotide variant (intron variant)	CRISPLD2-related disorder	GBenign
Select item 3042010	NM_031476.4(CRISPLD2):c.784C>G (p.His262Asp)	CRISPLD2 (H262D)	Single nucleotide variant (missense variant)	CRISPLD2-related disorder	GLikely benign
Select item 778617	NM_031476.4(CRISPLD2):c.808A>G (p.Met270Val)	CRISPLD2 (M270V)	Single nucleotide variant (missense variant)	CRISPLD2-related disorder +1 more	GBenign
Select item 2646929	NM_031476.4(CRISPLD2):c.852G>A (p.Met284Ile)	CRISPLD2 (M284I)	Single nucleotide variant (missense variant)	CRISPLD2-related disorder +1 more	GBenign/Likely benign
Select item 3036636	NM_031476.4(CRISPLD2):c.915-5G>A	CRISPLD2	Single nucleotide variant (intron variant)	CRISPLD2-related disorder	GLikely benign
Select item 3052312	NM_031476.4(CRISPLD2):c.981C>T (p.Ser327=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GBenign
Select item 3035146	NM_031476.4(CRISPLD2):c.1029C>T (p.Asp343=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GBenign
Select item 3032242	NM_031476.4(CRISPLD2):c.1077C>T (p.Phe359=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 3050511	NM_031476.4(CRISPLD2):c.1080G>A (p.Val360=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 768803	NM_031476.4(CRISPLD2):c.1113-5A>C	CRISPLD2	Single nucleotide variant (intron variant)	CRISPLD2-related disorder +1 more	GBenign
Select item 3044664	NM_031476.4(CRISPLD2):c.1157-9T>C	CRISPLD2	Single nucleotide variant (intron variant)	CRISPLD2-related disorder	GBenign
Select item 3054437	NM_031476.4(CRISPLD2):c.1173C>T (p.Cys391=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign
Select item 781230	NM_031476.4(CRISPLD2):c.1206A>G (p.Glu402=)	CRISPLD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 783066	NM_031476.4(CRISPLD2):c.1292A>G (p.Asn431Ser)	CRISPLD2, LOC126862429 (N431S)	Single nucleotide variant (missense variant)	CRISPLD2-related disorder +1 more	GBenign
Select item 733927	NM_031476.4(CRISPLD2):c.1301C>G (p.Ala434Gly)	CRISPLD2, LOC126862429 (A434G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3043906	NM_031476.4(CRISPLD2):c.1305+7A>C	CRISPLD2, LOC126862429	Single nucleotide variant (intron variant)	CRISPLD2-related disorder	GLikely benign
Select item 3042398	NM_031476.4(CRISPLD2):c.1338G>A (p.Ala446=)	CRISPLD2	Single nucleotide variant (synonymous variant)	CRISPLD2-related disorder	GLikely benign

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Items: 29