"Ambry Genetics"[submitter] AND "GUCY2D"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103311	NM_000180.4(GUCY2D):c.46C>T (p.Leu16Phe)	GUCY2D (L16F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623976	NM_000180.4(GUCY2D):c.59C>T (p.Ala20Val)	GUCY2D (A20V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255537	NM_000180.4(GUCY2D):c.98T>G (p.Leu33Arg)	GUCY2D (L33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1026656	NM_000180.4(GUCY2D):c.98T>A (p.Leu33Gln)	GUCY2D (L33Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1514500	NM_000180.4(GUCY2D):c.103C>G (p.Arg35Gly)	GUCY2D (R35G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +3 more	GUncertain significance
Select item 2248009	NM_000180.4(GUCY2D):c.131T>G (p.Leu44Arg)	GUCY2D (L44R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494388	NM_000180.4(GUCY2D):c.137A>T (p.Gln46Leu)	GUCY2D (Q46L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243400	NM_000180.4(GUCY2D):c.155C>T (p.Ala52Val)	GUCY2D (A52V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256424	NM_000180.4(GUCY2D):c.203T>A (p.Phe68Tyr)	GUCY2D (F68Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332215	NM_000180.4(GUCY2D):c.296C>A (p.Ala99Glu)	GUCY2D (A99E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103310	NM_000180.4(GUCY2D):c.421G>A (p.Glu141Lys)	GUCY2D (E141K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1509771	NM_000180.4(GUCY2D):c.482C>T (p.Thr161Met)	GUCY2D (T161M)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 3103312	NM_000180.4(GUCY2D):c.508G>T (p.Asp170Tyr)	GUCY2D (D170Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308092	NM_000180.4(GUCY2D):c.509A>T (p.Asp170Val)	GUCY2D (D170V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251125	NM_000180.4(GUCY2D):c.509A>C (p.Asp170Ala)	GUCY2D (D170A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283173	NM_000180.4(GUCY2D):c.547C>T (p.Arg183Cys)	GUCY2D (R183C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481187	NM_000180.4(GUCY2D):c.548G>A (p.Arg183His)	GUCY2D (R183H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 861793	NM_000180.4(GUCY2D):c.576C>A (p.Asp192Glu)	GUCY2D (D192E)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 969003	NM_000180.4(GUCY2D):c.595C>A (p.Arg199Ser)	GUCY2D (R199S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3283175	NM_000180.4(GUCY2D):c.619G>T (p.Ala207Ser)	GUCY2D (A207S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1056009	NM_000180.4(GUCY2D):c.659C>T (p.Pro220Leu)	GUCY2D (P220L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1019236	NM_000180.4(GUCY2D):c.793G>A (p.Glu265Lys)	GUCY2D (E265K)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 1055681	NM_000180.4(GUCY2D):c.802C>A (p.Leu268Met)	GUCY2D (L268M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 521653	NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter)	GUCY2D (Y283*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 2550279	NM_000180.4(GUCY2D):c.905G>A (p.Arg302His)	GUCY2D (R302H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483504	NM_000180.4(GUCY2D):c.931C>A (p.Leu311Ile)	GUCY2D (L311I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 859779	NM_000180.4(GUCY2D):c.991C>A (p.Arg331Ser)	GUCY2D (R331S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 1001867	NM_000180.4(GUCY2D):c.1021C>A (p.Gln341Lys)	GUCY2D (Q341K)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +3 more	GUncertain significance
Select item 1912722	NM_000180.4(GUCY2D):c.1072G>A (p.Ala358Thr)	GUCY2D (A358T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2397621	NM_000180.4(GUCY2D):c.1084G>A (p.Ala362Thr)	GUCY2D (A362T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 838740	NM_000180.4(GUCY2D):c.1147C>T (p.Arg383Trp)	GUCY2D (R383W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 959051	NM_000180.4(GUCY2D):c.1257G>A (p.Met419Ile)	GUCY2D (M419I)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +3 more	GUncertain significance
Select item 1019443	NM_000180.4(GUCY2D):c.1274G>C (p.Gly425Ala)	GUCY2D (G425A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 955053	NM_000180.4(GUCY2D):c.1297C>G (p.Arg433Gly)	GUCY2D (R433G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2522954	NM_000180.4(GUCY2D):c.1327C>T (p.Pro443Ser)	GUCY2D (P443S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103304	NM_000180.4(GUCY2D):c.1417G>A (p.Val473Met)	GUCY2D (V473M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1017111	NM_000180.4(GUCY2D):c.1495G>C (p.Gly499Arg)	GUCY2D (G499R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1356813	NM_000180.4(GUCY2D):c.1552G>A (p.Gly518Ser)	GUCY2D (G518S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2225652	NM_000180.4(GUCY2D):c.1553G>C (p.Gly518Ala)	GUCY2D (G518A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521652	NM_000180.4(GUCY2D):c.1566+1G>A	GUCY2D	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2486546	NM_000180.4(GUCY2D):c.1583G>A (p.Arg528Gln)	GUCY2D (R528Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283171	NM_000180.4(GUCY2D):c.1601G>A (p.Arg534His)	GUCY2D (R534H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1510917	NM_000180.4(GUCY2D):c.1619G>A (p.Arg540His)	GUCY2D (R540H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +2 more	GUncertain significance
Select item 3103305	NM_000180.4(GUCY2D):c.1707G>C (p.Gln569His)	GUCY2D (Q569H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265157	NM_000180.4(GUCY2D):c.1750C>G (p.Leu584Val)	GUCY2D (L584V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1979034	NM_000180.4(GUCY2D):c.1770G>T (p.Glu590Asp)	GUCY2D (E590D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +2 more	GUncertain significance
Select item 1428951	NM_000180.4(GUCY2D):c.1805G>A (p.Arg602Gln)	GUCY2D (R602Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2156743	NM_000180.4(GUCY2D):c.1828C>G (p.Leu610Val)	GUCY2D (L610V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1022425	NM_000180.4(GUCY2D):c.1828C>A (p.Leu610Ile)	GUCY2D (L610I)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 1056173	NM_000180.4(GUCY2D):c.1868C>T (p.Thr623Met)	GUCY2D (T623M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 999064	NM_000180.4(GUCY2D):c.1887C>A (p.Asp629Glu)	GUCY2D (D629E)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 1001416	NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr)	GUCY2D (H687Y)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1005049	NM_000180.4(GUCY2D):c.2093C>G (p.Pro698Arg)	GUCY2D (P698R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 767221	NM_000180.4(GUCY2D):c.2164C>T (p.Arg722Trp)	GUCY2D (R722W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 852854	NM_000180.4(GUCY2D):c.2171C>T (p.Thr724Met)	GUCY2D (T724M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2139003	NM_000180.4(GUCY2D):c.2434C>T (p.Arg812Trp)	GUCY2D (R812W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1043952	NM_000180.4(GUCY2D):c.2600C>A (p.Thr867Lys)	GUCY2D (T867K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1058296	NM_000180.4(GUCY2D):c.2608C>A (p.Pro870Thr)	GUCY2D (P870T)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 3283172	NM_000180.4(GUCY2D):c.2642T>G (p.Leu881Arg)	GUCY2D (L881R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318054	NM_000180.4(GUCY2D):c.2867T>A (p.Ile956Asn)	GUCY2D (I956N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296044	NM_000180.4(GUCY2D):c.2905C>T (p.Pro969Ser)	GUCY2D (P969S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529793	NM_000180.4(GUCY2D):c.2942C>T (p.Ser981Leu)	GUCY2D (S981L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103307	NM_000180.4(GUCY2D):c.3032C>T (p.Ser1011Phe)	GUCY2D (S1011F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381540	NM_000180.4(GUCY2D):c.3151G>A (p.Glu1051Lys)	GUCY2D (E1051K)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 1362824	NM_000180.4(GUCY2D):c.3179G>A (p.Arg1060His)	GUCY2D (R1060H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1382682	NM_000180.4(GUCY2D):c.3229A>G (p.Ser1077Gly)	GUCY2D (S1077G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1979333	NM_000180.4(GUCY2D):c.3265G>C (p.Glu1089Gln)	GUCY2D (E1089Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +2 more	GUncertain significance
Select item 1036691	NM_000180.4(GUCY2D):c.3265G>A (p.Glu1089Lys)	GUCY2D (E1089K)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 957388	NM_000180.4(GUCY2D):c.3274C>T (p.Arg1092Trp)	GUCY2D (R1092W)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 3283174	NM_000180.4(GUCY2D):c.3293G>A (p.Arg1098Gln)	GUCY2D (R1098Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103309	NM_000180.4(GUCY2D):c.3308C>T (p.Ser1103Phe)	GUCY2D (S1103F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 71