"GUCY2D-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033577	NM_000180.4(GUCY2D):c.-9-128C>T	GUCY2D	Single nucleotide variant (intron variant)	GUCY2D-related disorder	GLikely benign
Select item 444397	NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe)	GUCY2D (S25F)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +3 more	GConflicting classifications of pathogenicity
Select item 283615	NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)	GUCY2D	Deletion (inframe_deletion)	Choroidal dystrophy, central areolar, 1 +7 more	GConflicting classifications of pathogenicity
Select item 195029	NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro)	GUCY2D (A91P)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +3 more	GConflicting classifications of pathogenicity
Select item 3036611	NM_000180.4(GUCY2D):c.360C>T (p.Arg120=)	GUCY2D	Single nucleotide variant (synonymous variant)	GUCY2D-related disorder	GLikely benign
Select item 2932558	NM_000180.4(GUCY2D):c.786C>T (p.Ala262=)	GUCY2D	Single nucleotide variant (synonymous variant)	GUCY2D-related disorder +2 more	GLikely benign
Select item 710563	NM_000180.4(GUCY2D):c.1026+6C>T	GUCY2D	Single nucleotide variant (intron variant)	Cone-rod dystrophy 6 +2 more	GBenign
Select item 1609482	NM_000180.4(GUCY2D):c.1323A>T (p.Ser441=)	GUCY2D	Single nucleotide variant (synonymous variant)	GUCY2D-related disorder +2 more	GLikely benign
Select item 198055	NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu)	GUCY2D (P500L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +3 more	GConflicting classifications of pathogenicity
Select item 3054768	NM_000180.4(GUCY2D):c.1629C>T (p.Pro543=)	GUCY2D	Single nucleotide variant (synonymous variant)	GUCY2D-related disorder	GLikely benign
Select item 498473	NM_000180.4(GUCY2D):c.1851G>A (p.Val617=)	GUCY2D	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3031420	NM_000180.4(GUCY2D):c.2442G>T (p.Thr814=)	GUCY2D	Single nucleotide variant (synonymous variant)	GUCY2D-related disorder	GLikely benign
Select item 861651	NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)	GUCY2D (K866fs)	Deletion (frameshift variant)	GUCY2D-related disorder +2 more	GPathogenic
Select item 1098001	NM_000180.4(GUCY2D):c.2616G>A (p.Glu872=)	GUCY2D	Single nucleotide variant (synonymous variant)	GUCY2D-related disorder +2 more	GLikely benign
Select item 2634454	NM_000180.4(GUCY2D):c.3004A>C (p.Thr1002Pro)	GUCY2D (T1002P)	Single nucleotide variant (missense variant)	GUCY2D-related disorder	GUncertain significance
Select item 1158473	NM_000180.4(GUCY2D):c.3057C>T (p.His1019=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +2 more	GLikely benign
Select item 194699	NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu)	GUCY2D (S1033L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +3 more	GConflicting classifications of pathogenicity
Select item 1002992	NM_000180.4(GUCY2D):c.3139-3C>G	GUCY2D	Single nucleotide variant (intron variant)	GUCY2D-related disorder +2 more	GUncertain significance
Select item 3050370	NM_000180.4(GUCY2D):c.3169G>A (p.Val1057Met)	GUCY2D (V1057M)	Single nucleotide variant (missense variant)	GUCY2D-related disorder	GUncertain significance