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

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases +2 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 1509771	NM_000180.4(GUCY2D):c.482C>T (p.Thr161Met)	GUCY2D (T161M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 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)	Cone-rod dystrophy 6 +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)	Leber congenital amaurosis 1 +2 more	GUncertain significance
Select item 521653	NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter)	GUCY2D (Y283*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +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 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 2522954	NM_000180.4(GUCY2D):c.1327C>T (p.Pro443Ser)	GUCY2D (P443S)	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)	Cone-rod dystrophy 6 +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 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)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 2156743	NM_000180.4(GUCY2D):c.1828C>G (p.Leu610Val)	GUCY2D (L610V)	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)	Inborn genetic diseases +4 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 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 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 1979333	NM_000180.4(GUCY2D):c.3265G>C (p.Glu1089Gln)	GUCY2D (E1089Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 1036691	NM_000180.4(GUCY2D):c.3265G>A (p.Glu1089Lys)	GUCY2D (E1089K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +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

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Items: 40