Related gene-specific medical variations for Gene (Select 3000) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383186	NM_000180.4(GUCY2D):c.1214_1216delinsCAA (p.Leu405_Asp406delinsProAsn)	GUCY2D	Indel (missense variant)	Leber congenital amaurosis 1 +3 more	GUncertain significance
Select item 3383016	NM_000180.4(GUCY2D):c.2071del (p.Leu691fs)	GUCY2D (L691fs)	Deletion (frameshift variant)	Leber congenital amaurosis 1 +3 more	GPathogenic
Select item 3382833	NM_000180.4(GUCY2D):c.1789G>A (p.Gly597Arg)	GUCY2D (G597R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 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 3361414	NM_000180.4(GUCY2D):c.960C>A (p.Ser320Arg)	GUCY2D (S320R)	Single nucleotide variant (missense variant)	not provided	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 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 2920623	NM_000180.4(GUCY2D):c.676del (p.Ala226fs)	GUCY2D (A226fs)	Deletion (frameshift variant)	Leber congenital amaurosis 1	GLikely pathogenic
Select item 2920622	NM_000180.4(GUCY2D):c.2977A>G (p.Met993Val)	GUCY2D (M993V)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6	GUncertain significance
Select item 2432336	NM_000180.4(GUCY2D):c.1222G>A (p.Asp408Asn)	GUCY2D (D408N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432335	NM_000180.4(GUCY2D):c.3239G>T (p.Gly1080Val)	GUCY2D (G1080V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432334	NM_000180.4(GUCY2D):c.156C>T (p.Ala52=)	GUCY2D	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1184616	NM_000180.4(GUCY2D):c.3043+5G>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1	GLikely pathogenic
Select item 1184571	NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg)	GUCY2D (S958R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1	GLikely pathogenic
Select item 982542	NM_000180.4(GUCY2D):c.2960G>C (p.Gly987Ala)	GUCY2D (G987A)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 982535	NM_000180.4(GUCY2D):c.3044-1G>C	GUCY2D	Single nucleotide variant (splice acceptor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 982529	NM_000180.4(GUCY2D):c.1991A>C (p.His664Pro)	GUCY2D (H664P)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 931936	NM_000180.4(GUCY2D):c.1567-15A>T	GUCY2D	Single nucleotide variant (intron variant)	Choroidal dystrophy, central areolar, 1	GUncertain significance
Select item 931063	NM_000180.4(GUCY2D):c.1974C>A (p.His658Gln)	GUCY2D (H658Q)	Single nucleotide variant (missense variant)	Choroidal dystrophy, central areolar, 1	GUncertain significance
Select item 867097	NM_000180.4(GUCY2D):c.1964G>A (p.Arg655Lys)	GUCY2D (R655K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 867013	NM_000180.4(GUCY2D):c.1877C>G (p.Ser626Cys)	GUCY2D (S626C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866699	NM_000180.4(GUCY2D):c.2926C>T (p.Arg976Cys)	GUCY2D (R976C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 866650	NM_000180.4(GUCY2D):c.2525T>C (p.Leu842Pro)	GUCY2D (L842P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866522	NM_000180.4(GUCY2D):c.2860C>G (p.Leu954Val)	GUCY2D (L954V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866488	NM_000180.4(GUCY2D):c.2462T>C (p.Leu821Pro)	GUCY2D (L821P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866201	NM_000180.4(GUCY2D):c.2280G>A (p.Val760=)	GUCY2D	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 866193	NM_000180.4(GUCY2D):c.2719G>A (p.Asp907Asn)	GUCY2D (D907N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 430835	NM_000180.4(GUCY2D):c.2114-27_2263+18del	GUCY2D	Deletion (splice acceptor variant +1 more)	Leber congenital amaurosis 1	GPathogenic
Select item 98612	NM_000180.4(GUCY2D):c.974T>C (p.Leu325Pro)	GUCY2D (L325P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98608	NM_000180.4(GUCY2D):c.779T>C (p.Leu260Pro)	GUCY2D (L260P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98606	NM_000180.4(GUCY2D):c.577C>T (p.Leu193=)	GUCY2D	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98600	NM_000180.4(GUCY2D):c.341T>C (p.Val114Ala)	GUCY2D (V114A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98599	NM_000180.4(GUCY2D):c.3282G>T (p.Leu1094=)	GUCY2D	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98598	NM_000180.4(GUCY2D):c.3237_3238insCAAC (p.Gly1080fs)	GUCY2D (G1080fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 98597	NM_000180.4(GUCY2D):c.3206del (p.Pro1069fs)	GUCY2D (P1069fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98595	NM_000180.4(GUCY2D):c.314G>A (p.Cys105Tyr)	GUCY2D (C105Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98593	NM_000180.4(GUCY2D):c.3118C>G (p.Arg1040Gly)	GUCY2D (R1040G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98592	NM_000180.4(GUCY2D):c.3108G>T (p.Gln1036His)	GUCY2D (Q1036H)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98591	NM_000180.4(GUCY2D):c.3106C>T (p.Gln1036Ter)	GUCY2D (Q1036*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 98588	NM_000180.4(GUCY2D):c.3055C>A (p.His1019Asn)	GUCY2D (H1019N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98583	NM_000180.4(GUCY2D):c.2951G>A (p.Cys984Tyr)	GUCY2D (C984Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98580	NM_000180.4(GUCY2D):c.289G>C (p.Glu97Gln)	GUCY2D (E97Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98576	NM_000180.4(GUCY2D):c.2837C>T (p.Ala946Val)	GUCY2D (A946V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98574	NM_000180.4(GUCY2D):c.2749G>C (p.Gly917Arg)	GUCY2D (G917R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98573	NM_000180.4(GUCY2D):c.2745C>T (p.Ile915=)	GUCY2D	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98571	NM_000180.4(GUCY2D):c.2572C>T (p.Pro858Ser)	GUCY2D (P858S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98570	NM_000180.4(GUCY2D):c.2566A>G (p.Met856Val)	GUCY2D (M856V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98567	NM_000180.4(GUCY2D):c.2511G>C (p.Glu837Asp)	GUCY2D (E837D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98566	NM_000180.4(GUCY2D):c.2384G>T (p.Arg795Leu)	GUCY2D (R795L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98565	NM_000180.4(GUCY2D):c.2346C>A (p.Leu782=)	GUCY2D	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98564	NM_000180.4(GUCY2D):c.2317A>C (p.Met773Leu)	GUCY2D (M773L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98561	NM_000180.4(GUCY2D):c.2248G>T (p.Glu750Ter)	GUCY2D (E750*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 98560	NM_000180.4(GUCY2D):c.2237A>G (p.Tyr746Cys)	GUCY2D (Y746C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98557	NM_000180.4(GUCY2D):c.2080C>A (p.Gln694Lys)	GUCY2D (Q694K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98556	NM_000180.4(GUCY2D):c.2078_2085del (p.Ala693fs)	GUCY2D (A693fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98553	NM_000180.4(GUCY2D):c.1957G>A (p.Gly653Arg)	GUCY2D (G653R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98551	NM_000180.4(GUCY2D):c.1957-1G>A	GUCY2D	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 98545	NM_000180.4(GUCY2D):c.1615A>G (p.Ile539Val)	GUCY2D (I539V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98542	NM_000180.4(GUCY2D):c.1424_1431dup (p.Leu478fs)	GUCY2D (L478fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 98541	NM_000180.4(GUCY2D):c.1379-28A>G	GUCY2D	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 98537	NM_000180.4(GUCY2D):c.1084G>T (p.Ala362Ser)	GUCY2D (A362S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98535	NM_000180.4(GUCY2D):c.1026+172del	GUCY2D	Deletion (intron variant)	not provided	Gnot provided

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Links from Gene

Items: 66