ClinVar for MedGen (Select 419026) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1437

<< First< Prev

Page of 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3775417	NM_000180.4(GUCY2D):c.582G>A (p.Trp194Ter)	GUCY2D (W194*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 1	GPathogenic
Select item 3775398	NM_000180.4(GUCY2D):c.19C>T (p.Arg7Ter)	GUCY2D (R7*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 1	GPathogenic
Select item 3763766	NM_000180.4(GUCY2D):c.1198C>T (p.Pro400Ser)	GUCY2D (P400S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3763059	NM_000180.4(GUCY2D):c.538G>A (p.Gly180Ser)	GUCY2D (G180S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3762215	NM_000180.4(GUCY2D):c.1355A>G (p.Asp452Gly)	GUCY2D (D452G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3762144	NM_000180.4(GUCY2D):c.3043+9G>C	GUCY2D	Single nucleotide variant (intron variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3761833	NM_000180.4(GUCY2D):c.2426A>G (p.Asn809Ser)	GUCY2D (N809S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3761057	NM_000180.4(GUCY2D):c.1623C>T (p.Ser541=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3760888	NM_000180.4(GUCY2D):c.3166C>T (p.Leu1056=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3760815	NM_000180.4(GUCY2D):c.1497C>A (p.Gly499=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3760706	NM_000180.4(GUCY2D):c.1431G>A (p.Gly477=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3759585	NM_000180.4(GUCY2D):c.3048C>T (p.Tyr1016=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3759339	NM_000180.4(GUCY2D):c.3139-12A>G	GUCY2D	Single nucleotide variant (intron variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3758457	NM_000180.4(GUCY2D):c.2708A>C (p.Asp903Ala)	GUCY2D (D903A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3758394	NM_000180.4(GUCY2D):c.43G>A (p.Gly15Arg)	GUCY2D (G15R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3758306	NM_000180.4(GUCY2D):c.437C>T (p.Ala146Val)	GUCY2D (A146V)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3757676	NM_000180.4(GUCY2D):c.1724del (p.Pro575fs)	GUCY2D (P575fs)	Deletion (frameshift variant)	Cone-rod dystrophy 6 +1 more	GPathogenic
Select item 3757639	NM_000180.4(GUCY2D):c.2272C>T (p.Gln758Ter)	GUCY2D (Q758*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 6 +1 more	GPathogenic
Select item 3757277	NM_000180.4(GUCY2D):c.1669-17C>G	GUCY2D	Single nucleotide variant (intron variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3757135	NM_000180.4(GUCY2D):c.2793T>C (p.Tyr931=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3756932	NM_000180.4(GUCY2D):c.297G>T (p.Ala99=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3756808	NM_000180.4(GUCY2D):c.375G>A (p.Val125=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3756676	NM_000180.4(GUCY2D):c.2769+16G>A	GUCY2D	Single nucleotide variant (intron variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3756039	NM_000180.4(GUCY2D):c.1431del (p.Leu478fs)	GUCY2D (L478fs)	Deletion (frameshift variant)	Cone-rod dystrophy 6 +1 more	GPathogenic
Select item 3755843	NM_000180.4(GUCY2D):c.422A>C (p.Glu141Ala)	GUCY2D (E141A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3755586	NM_000180.4(GUCY2D):c.1343C>G (p.Ser448Trp)	GUCY2D (S448W)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3755347	NM_000180.4(GUCY2D):c.66G>A (p.Trp22Ter)	GUCY2D (W22*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 6 +1 more	GPathogenic
Select item 3755232	NM_000180.4(GUCY2D):c.1971G>A (p.Leu657=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3755096	NM_000180.4(GUCY2D):c.2865C>T (p.Asp955=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3755083	NM_000180.4(GUCY2D):c.2940C>T (p.His980=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3754940	NM_000180.4(GUCY2D):c.3264C>T (p.Pro1088=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3754809	NM_000180.4(GUCY2D):c.2945-16C>T	GUCY2D	Single nucleotide variant (intron variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3754636	NM_000180.4(GUCY2D):c.397T>C (p.Cys133Arg)	GUCY2D (C133R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3753554	NM_000180.4(GUCY2D):c.2750G>T (p.Gly917Val)	GUCY2D (G917V)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3753547	NM_000180.4(GUCY2D):c.3144G>C (p.Lys1048Asn)	GUCY2D (K1048N)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3753441	NM_000180.4(GUCY2D):c.860C>T (p.Pro287Leu)	GUCY2D (P287L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3753378	NM_000180.4(GUCY2D):c.1258C>G (p.Leu420Val)	GUCY2D (L420V)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3753284	NM_000180.4(GUCY2D):c.1626C>A (p.Gly542=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3753266	NM_000180.4(GUCY2D):c.3180C>G (p.Arg1060=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3753167	NM_000180.4(GUCY2D):c.1823C>T (p.Ala608Val)	GUCY2D (A608V)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3753116	NM_000180.4(GUCY2D):c.508G>A (p.Asp170Asn)	GUCY2D (D170N)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3752719	NM_000180.4(GUCY2D):c.2344C>T (p.Leu782Phe)	GUCY2D (L782F)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3752672	NM_000180.4(GUCY2D):c.2694C>T (p.Pro898=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3752666	NM_000180.4(GUCY2D):c.1295C>G (p.Thr432Ser)	GUCY2D (T432S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3752663	NM_000180.4(GUCY2D):c.1642G>C (p.Asp548His)	GUCY2D (D548H)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3752416	NM_000180.4(GUCY2D):c.340G>A (p.Val114Met)	GUCY2D (V114M)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3752118	NM_000180.4(GUCY2D):c.549C>T (p.Arg183=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3752079	NM_000180.4(GUCY2D):c.1669-4G>T	GUCY2D	Single nucleotide variant (intron variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3751977	NM_000180.4(GUCY2D):c.1533C>A (p.Thr511=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3751629	NM_000180.4(GUCY2D):c.893G>C (p.Ser298Thr)	GUCY2D (S298T)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3751356	NM_000180.4(GUCY2D):c.636C>G (p.Val212=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3751305	NM_000180.4(GUCY2D):c.173T>G (p.Val58Gly)	GUCY2D (V58G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3751140	NM_000180.4(GUCY2D):c.2223C>T (p.Cys741=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3751108	NM_000180.4(GUCY2D):c.2052C>T (p.Asp684=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3750941	NM_000180.4(GUCY2D):c.3023G>T (p.Arg1008Leu)	GUCY2D (R1008L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3750937	NM_000180.4(GUCY2D):c.1463+11G>T	GUCY2D	Single nucleotide variant (intron variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3750791	NM_000180.4(GUCY2D):c.505_506delinsTT (p.Ala169Leu)	GUCY2D (A169L)	Indel (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3750696	NM_000180.4(GUCY2D):c.326G>A (p.Gly109Asp)	GUCY2D (G109D)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3750245	NM_000180.4(GUCY2D):c.357C>T (p.Ala119=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3750155	NM_000180.4(GUCY2D):c.2168G>A (p.Gly723Glu)	GUCY2D (G723E)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3749566	NM_000180.4(GUCY2D):c.1850T>C (p.Val617Ala)	GUCY2D (V617A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 3749357	NM_000180.4(GUCY2D):c.1752C>T (p.Leu584=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 3749292	NM_000180.4(GUCY2D):c.1567-14C>T	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 3749221	NM_000180.4(GUCY2D):c.1774G>T (p.Val592Leu)	GUCY2D (V592L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 3749155	NM_000180.4(GUCY2D):c.144C>A (p.Pro48=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 3748952	NM_000180.4(GUCY2D):c.2549_2550del (p.Asp850fs)	GUCY2D (D850fs)	Deletion (frameshift variant)	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 3748804	NM_000180.4(GUCY2D):c.2305C>T (p.Pro769Ser)	GUCY2D (P769S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 3748407	NM_000180.4(GUCY2D):c.1740C>G (p.Ala580=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 3747913	NM_000180.4(GUCY2D):c.967G>A (p.Asp323Asn)	GUCY2D (D323N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 3583122	NM_000180.4(GUCY2D):c.3127del (p.Thr1043fs)	GUCY2D (T1043fs)	Deletion (frameshift variant)	Night blindness, congenital stationary, type1i +3 more	GLikely pathogenic
Select item 3583121	NM_000180.4(GUCY2D):c.2515_2522del (p.Thr839fs)	GUCY2D (T839fs)	Deletion (frameshift variant)	Night blindness, congenital stationary, type1i +3 more	GLikely pathogenic
Select item 3583120	NM_000180.4(GUCY2D):c.1956+1G>A	GUCY2D	Single nucleotide variant (splice donor variant)	GUCY2D-related recessive retinopathy	GPathogenicFDA Recognized database
Select item 3583119	NM_000180.4(GUCY2D):c.1378+1G>T	GUCY2D	Single nucleotide variant (splice donor variant)	Night blindness, congenital stationary, type1i +3 more	GLikely pathogenic
Select item 3583118	NM_000180.4(GUCY2D):c.1341dup (p.Ser448fs)	GUCY2D (S448fs)	Duplication (frameshift variant)	Night blindness, congenital stationary, type1i +3 more	GLikely pathogenic
Select item 3523411	NM_000180.4(GUCY2D):c.1031C>T (p.Ser344Phe)	GUCY2D (S344F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3383186	NM_000180.4(GUCY2D):c.1214_1216delinsCAA (p.Leu405_Asp406delinsProAsn)	GUCY2D	Indel (missense variant)	Choroidal dystrophy, central areolar, 1 +3 more	GUncertain significance
Select item 3383016	NM_000180.4(GUCY2D):c.2071del (p.Leu691fs)	GUCY2D (L691fs)	Deletion (frameshift variant)	Choroidal dystrophy, central areolar, 1 +3 more	GPathogenic
Select item 3382833	NM_000180.4(GUCY2D):c.1789G>A (p.Gly597Arg)	GUCY2D (G597R)	Single nucleotide variant (missense variant)	Choroidal dystrophy, central areolar, 1 +3 more	GUncertain significance
Select item 3362758	NM_000180.4(GUCY2D):c.815C>T (p.Ser272Phe)	GUCY2D (S272F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1	GUncertain significance
Select item 3362744	NM_000180.4(GUCY2D):c.2943_2944+7del	GUCY2D	Deletion (splice donor variant)	Leber congenital amaurosis 1	GPathogenic
Select item 3362734	NM_000180.4(GUCY2D):c.2285del (p.Ser762fs)	GUCY2D (S762fs)	Deletion (frameshift variant)	Leber congenital amaurosis 1	GPathogenic
Select item 3283171	NM_000180.4(GUCY2D):c.1601G>A (p.Arg534His)	GUCY2D (R534H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3256637	NM_000180.4(GUCY2D):c.3043+4_3043+7del	GUCY2D	Deletion (splice donor variant)	Leber congenital amaurosis 1	GUncertain significance
Select item 3243071	NC_000017.10:g.(?_7906366)_(7911370_?)del	GUCY2D	Deletion	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 3243070	NC_000017.10:g.(?_7919041)_(7919848_?)del	GUCY2D	Deletion	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 3103310	NM_000180.4(GUCY2D):c.421G>A (p.Glu141Lys)	GUCY2D (E141K)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 3103304	NM_000180.4(GUCY2D):c.1417G>A (p.Val473Met)	GUCY2D (V473M)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 3067973	NM_000180.4(GUCY2D):c.1401dup (p.Leu468fs)	GUCY2D (L468fs)	Duplication (frameshift variant)	Leber congenital amaurosis 1	GLikely pathogenic
Select item 3065259	NM_000180.4(GUCY2D):c.1001T>G (p.Leu334Arg)	GUCY2D (L334R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1	GUncertain significance
Select item 2954409	NM_000180.4(GUCY2D):c.2515A>C (p.Thr839Pro)	GUCY2D (T839P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2954361	NM_000180.4(GUCY2D):c.2291dup (p.Pro765fs)	GUCY2D (P765fs)	Duplication (frameshift variant)	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 2954324	NM_000180.4(GUCY2D):c.1779C>T (p.Ala593=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2954275	NM_000180.4(GUCY2D):c.438G>T (p.Ala146=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2954253	NM_000180.4(GUCY2D):c.3139-4C>T	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2954008	NM_000180.4(GUCY2D):c.2263+20G>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2953981	NM_000180.4(GUCY2D):c.1566+12AG[2]	GUCY2D	Microsatellite (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2953952	NM_000180.4(GUCY2D):c.2944+18C>G	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2953936	NM_000180.4(GUCY2D):c.567C>G (p.Ala189=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2953874	NM_000180.4(GUCY2D):c.414G>C (p.Leu138=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2953780	NM_000180.4(GUCY2D):c.2770-4C>T	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign

<< First< Prev

Page of 15