ClinVar for MedGen (Select 419026) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2953753	NM_000180.4(GUCY2D):c.2114-14T>C	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2953457	NM_000180.4(GUCY2D):c.2632C>T (p.Gln878Ter)	GUCY2D (Q878*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 2953419	NM_000180.4(GUCY2D):c.660C>T (p.Pro220=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2953338	NM_000180.4(GUCY2D):c.2770-7C>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2953286	NM_000180.4(GUCY2D):c.1464-4C>T	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2953233	NM_000180.4(GUCY2D):c.2770-10C>T	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2953195	NM_000180.4(GUCY2D):c.2730dup (p.Leu911fs)	GUCY2D (L911fs)	Duplication (frameshift variant)	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 2953106	NM_000180.4(GUCY2D):c.239C>T (p.Ala80Val)	GUCY2D (A80V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2953027	NM_000180.4(GUCY2D):c.2770-34_2925del	GUCY2D	Deletion (splice acceptor variant)	Leber congenital amaurosis 1 +1 more	GLikely pathogenic
Select item 2952997	NM_000180.4(GUCY2D):c.129T>C (p.Leu43=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2952994	NM_000180.4(GUCY2D):c.3225-11C>G	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2952971	NM_000180.4(GUCY2D):c.456C>T (p.Cys152=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2952913	NM_000180.4(GUCY2D):c.2933G>C (p.Gly978Ala)	GUCY2D (G978A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2952898	NM_000180.4(GUCY2D):c.1379-6C>T	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2952860	NM_000180.4(GUCY2D):c.2562A>G (p.Thr854=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2952721	NM_000180.4(GUCY2D):c.2770-4C>G	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2952460	NM_000180.4(GUCY2D):c.1626C>G (p.Gly542=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2952453	NM_000180.4(GUCY2D):c.1026+11C>T	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2952396	NM_000180.4(GUCY2D):c.2114-7T>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2952369	NM_000180.4(GUCY2D):c.3198C>T (p.Ile1066=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2952239	NM_000180.4(GUCY2D):c.1759C>T (p.Leu587Phe)	GUCY2D (L587F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2952102	NM_000180.4(GUCY2D):c.2871C>A (p.Leu957=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2952063	NM_000180.4(GUCY2D):c.1784_1787del (p.Tyr595fs)	GUCY2D (Y595fs)	Deletion (frameshift variant)	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 2951989	NM_000180.4(GUCY2D):c.2835C>T (p.His945=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2951976	NM_000180.4(GUCY2D):c.1408T>C (p.Phe470Leu)	GUCY2D (F470L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2951877	NM_000180.4(GUCY2D):c.2526G>A (p.Leu842=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2951834	NM_000180.4(GUCY2D):c.2457G>A (p.Ser819=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2951748	NM_000180.4(GUCY2D):c.1668+17C>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2951713	NM_000180.4(GUCY2D):c.1009G>A (p.Asp337Asn)	GUCY2D (D337N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2951689	NM_000180.4(GUCY2D):c.324G>T (p.Pro108=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2951528	NM_000180.4(GUCY2D):c.2944+19_2944+26del	GUCY2D	Deletion (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2951524	NM_000180.4(GUCY2D):c.1379-17T>C	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2951444	NM_000180.4(GUCY2D):c.2746A>G (p.Ile916Val)	GUCY2D (I916V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2951368	NM_000180.4(GUCY2D):c.60G>C (p.Ala20=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2951322	NM_000180.4(GUCY2D):c.3139-13C>T	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2951180	NM_000180.4(GUCY2D):c.174C>T (p.Val58=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2951060	NM_000180.4(GUCY2D):c.468G>A (p.Gln156=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950895	NM_000180.4(GUCY2D):c.1026+11C>G	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950729	NM_000180.4(GUCY2D):c.2145G>A (p.Arg715=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950714	NM_000180.4(GUCY2D):c.1149_1155del (p.Asp384fs)	GUCY2D (D384fs)	Deletion (frameshift variant)	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 2950688	NM_000180.4(GUCY2D):c.3289G>A (p.Ala1097Thr)	GUCY2D (A1097T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950687	NM_000180.4(GUCY2D):c.2916C>T (p.Pro972=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950686	NM_000180.4(GUCY2D):c.2475G>A (p.Glu825=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950619	NM_000180.4(GUCY2D):c.1731C>A (p.Thr577=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950594	NM_000180.4(GUCY2D):c.2264-14C>T	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950513	NM_000180.4(GUCY2D):c.2421C>T (p.Asn807=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950496	NM_000180.4(GUCY2D):c.2103C>T (p.Pro701=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950448	NM_000180.4(GUCY2D):c.1026+7G>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950345	NM_000180.4(GUCY2D):c.2619C>T (p.Pro873=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950332	NM_000180.4(GUCY2D):c.2190T>C (p.Phe730=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950318	NM_000180.4(GUCY2D):c.2577-6C>T	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950278	NM_000180.4(GUCY2D):c.1669-15T>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950134	NM_000180.4(GUCY2D):c.2769+9T>G	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2950003	NM_000180.4(GUCY2D):c.1378+15C>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2949914	NM_000180.4(GUCY2D):c.3224+20G>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2949897	NM_000180.4(GUCY2D):c.3139-7dup	GUCY2D	Duplication (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2949878	NM_000180.4(GUCY2D):c.1027-5T>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2949815	NM_000180.4(GUCY2D):c.2114-8A>G	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2949747	NM_000180.4(GUCY2D):c.1315G>C (p.Gly439Arg)	GUCY2D (G439R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2949715	NM_000180.4(GUCY2D):c.598T>C (p.Ser200Pro)	GUCY2D (S200P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2949625	NM_000180.4(GUCY2D):c.2264-7C>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2949599	NM_000180.4(GUCY2D):c.1101C>T (p.Ala367=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2949523	NM_000180.4(GUCY2D):c.2412+8G>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2949454	NM_000180.4(GUCY2D):c.1957-9C>G	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2949402	NM_000180.4(GUCY2D):c.442del (p.Val148fs)	GUCY2D (V148fs)	Deletion (frameshift variant)	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 2949253	NM_000180.4(GUCY2D):c.2838G>C (p.Ala946=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2949120	NM_000180.4(GUCY2D):c.2938C>T (p.His980Tyr)	GUCY2D (H980Y)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2949105	NM_000180.4(GUCY2D):c.890A>G (p.Asn297Ser)	GUCY2D (N297S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2948935	NM_000180.4(GUCY2D):c.1935C>T (p.Ser645=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2948862	NM_000180.4(GUCY2D):c.2193C>T (p.Ser731=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2948739	NM_000180.4(GUCY2D):c.209G>C (p.Arg70Pro)	GUCY2D (R70P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2948729	NM_000180.4(GUCY2D):c.3015C>T (p.Thr1005=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2948706	NM_000180.4(GUCY2D):c.352C>T (p.Leu118=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2948613	NM_000180.4(GUCY2D):c.3043+17_3043+27dup	GUCY2D	Duplication (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2948561	NM_000180.4(GUCY2D):c.992G>T (p.Arg331Leu)	GUCY2D (R331L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2948560	NM_000180.4(GUCY2D):c.40C>A (p.Pro14Thr)	GUCY2D (P14T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2948497	NM_000180.4(GUCY2D):c.1669-18C>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2948416	NM_000180.4(GUCY2D):c.1581T>C (p.Ser527=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2948414	NM_000180.4(GUCY2D):c.744G>C (p.Ser248=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2948240	NM_000180.4(GUCY2D):c.2860C>T (p.Leu954=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2948227	NM_000180.4(GUCY2D):c.3200C>A (p.Pro1067His)	GUCY2D (P1067H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2948226	NM_000180.4(GUCY2D):c.516C>T (p.Leu172=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2948148	NM_000180.4(GUCY2D):c.669G>T (p.Leu223=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2947974	NM_000180.4(GUCY2D):c.2413-14C>G	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2947837	NM_000180.4(GUCY2D):c.1263T>A (p.Asp421Glu)	GUCY2D (D421E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2947805	NM_000180.4(GUCY2D):c.3044-5C>T	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2947774	NM_000180.4(GUCY2D):c.3234C>T (p.Asn1078=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign

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