3000[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC130060207, LOC130060208 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC130060232, LOC130060233 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	ALOX12B, ALOX15B +110 more	Copy number gain	See cases	GUncertain significance
Select item 1258982	NM_000180.4(GUCY2D):c.-10+5A>G	GUCY2D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 584235	NC_000017.11:g.(?_8002902)_(8016550_?)del	GUCY2D	Deletion	Cone-rod dystrophy 6 +1 more	GPathogenic
Select item 3033577	NM_000180.4(GUCY2D):c.-9-128C>T	GUCY2D	Single nucleotide variant (intron variant)	GUCY2D-related disorder	GLikely benign
Select item 1066142	NM_000180.4(GUCY2D):c.-2_3del (p.Met1fs)	GUCY2D (M1fs)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 1685872	NM_000180.4(GUCY2D):c.1A>G (p.Met1Val)	GUCY2D (M1V)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 98585	NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys)	GUCY2D (M1K)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 1	GPathogenic
Select item 98604	NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)	GUCY2D (M1I)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 6 +1 more	GPathogenic
Select item 98603	NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile)	GUCY2D (M1I)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 1	GPathogenic
Select item 2045171	NM_000180.4(GUCY2D):c.11G>A (p.Cys4Tyr)	GUCY2D (C4Y)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GBenign
Select item 2941641	NM_000180.4(GUCY2D):c.16_19del (p.Arg6fs)	GUCY2D (R6fs)	Microsatellite (frameshift variant)	Cone-rod dystrophy 6 +1 more	GPathogenic
Select item 937056	NM_000180.4(GUCY2D):c.13G>A (p.Ala5Thr)	GUCY2D (A5T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 1377678	NM_000180.4(GUCY2D):c.16C>T (p.Arg6Cys)	GUCY2D (R6C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 756205	NM_000180.4(GUCY2D):c.24G>T (p.Ala8=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 2115590	NM_000180.4(GUCY2D):c.36G>A (p.Pro12=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 2948560	NM_000180.4(GUCY2D):c.40C>A (p.Pro14Thr)	GUCY2D (P14T)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 931521	NM_000180.4(GUCY2D):c.40C>G (p.Pro14Ala)	GUCY2D (P14A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GUncertain significance
Select item 2931740	NM_000180.4(GUCY2D):c.42C>T (p.Pro14=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 2929187	NM_000180.4(GUCY2D):c.45G>T (p.Gly15=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
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 933542	NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg)	GUCY2D (C17R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +3 more	GUncertain significance
Select item 2945151	NM_000180.4(GUCY2D):c.51C>A (p.Cys17Ter)	GUCY2D (C17*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 6 +1 more	GPathogenic
Select item 98605	NM_000180.4(GUCY2D):c.52_99dup (p.Gly18_Leu33dup)	GUCY2D	Duplication (inframe_insertion)	Leber congenital amaurosis 1	GLikely pathogenic
Select item 1089070	NM_000180.4(GUCY2D):c.54T>G (p.Gly18=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 1538995	NM_000180.4(GUCY2D):c.57C>G (p.Pro19=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
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 2951368	NM_000180.4(GUCY2D):c.60G>C (p.Ala20=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 1712097	NM_000180.4(GUCY2D):c.61_62inv (p.Trp21Gln)	GUCY2D (W21Q)	Inversion (missense variant)	not provided	GUncertain significance
Select item 92581	NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg)	GUCY2D (W21R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +3 more	GBenign
Select item 961067	NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter)	GUCY2D (W22*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 6 +1 more	GPathogenic
Select item 2064587	NM_000180.4(GUCY2D):c.69T>A (p.Ala23=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 444397	NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe)	GUCY2D (S25F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2020308	NM_000180.4(GUCY2D):c.75C>T (p.Ser25=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 1089895	NM_000180.4(GUCY2D):c.78G>T (p.Leu26=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 761801	NM_000180.4(GUCY2D):c.81C>T (p.Pro27=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 2050455	NM_000180.4(GUCY2D):c.85C>T (p.Leu29Phe)	GUCY2D (L29F)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 98609	NM_000180.4(GUCY2D):c.91dup (p.Arg31fs)	GUCY2D (R31fs)	Duplication (frameshift variant)	Cone-rod dystrophy 6 +1 more	GPathogenic
Select item 2928161	NM_000180.4(GUCY2D):c.87C>G (p.Leu29=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 2022622	NM_000180.4(GUCY2D):c.94_105del (p.Ala32_Arg35del)	GUCY2D	Deletion (inframe_deletion)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2071823	NM_000180.4(GUCY2D):c.91C>G (p.Arg31Gly)	GUCY2D (R31G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2198323	NM_000180.4(GUCY2D):c.92G>A (p.Arg31Gln)	GUCY2D (R31Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 1969256	NM_000180.4(GUCY2D):c.93G>T (p.Arg31=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
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 1089664	NM_000180.4(GUCY2D):c.102C>T (p.Pro34=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
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 939791	NM_000180.4(GUCY2D):c.104G>T (p.Arg35Leu)	GUCY2D (R35L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 2943041	NM_000180.4(GUCY2D):c.105G>A (p.Arg35=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 1715583	NM_000180.4(GUCY2D):c.110C>G (p.Pro37Arg)	GUCY2D (P37R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 2932351	NM_000180.4(GUCY2D):c.111G>A (p.Pro37=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 2923118	NM_000180.4(GUCY2D):c.112C>T (p.Leu38Phe)	GUCY2D (L38F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 98538	NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe)	GUCY2D (L41F)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +4 more	GUncertain significance
Select item 283615	NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)	GUCY2D	Deletion (inframe_deletion)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 2936778	NM_000180.4(GUCY2D):c.126G>T (p.Leu42=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 2952997	NM_000180.4(GUCY2D):c.129T>C (p.Leu43=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 1053812	NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del)	GUCY2D (L45del)	Microsatellite (inframe_deletion)	Choroidal dystrophy, central areolar, 1 +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 1085484	NM_000180.4(GUCY2D):c.132G>A (p.Leu44=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
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 2943135	NM_000180.4(GUCY2D):c.144dup (p.Ala49fs)	GUCY2D (A49fs)	Duplication (frameshift variant)	Cone-rod dystrophy 6 +1 more	GPathogenic
Select item 2196744	NM_000180.4(GUCY2D):c.139C>T (p.Pro47Ser)	GUCY2D (P47S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 983474	NM_000180.4(GUCY2D):c.144del (p.Ala49fs)	GUCY2D (A49fs)	Deletion (frameshift variant)	Leber congenital amaurosis 1	GLikely pathogenic
Select item 1719460	NM_000180.4(GUCY2D):c.140C>G (p.Pro47Arg)	GUCY2D (P47R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 1429566	NM_000180.4(GUCY2D):c.140C>T (p.Pro47Leu)	GUCY2D (P47L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 1621240	NM_000180.4(GUCY2D):c.141C>G (p.Pro47=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2934497	NM_000180.4(GUCY2D):c.144C>T (p.Pro48=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 2931469	NM_000180.4(GUCY2D):c.144C>G (p.Pro48=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 2156638	NM_000180.4(GUCY2D):c.145G>A (p.Ala49Thr)	GUCY2D (A49T)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 839843	NM_000180.4(GUCY2D):c.145G>T (p.Ala49Ser)	GUCY2D (A49S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 9353	NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)	GUCY2D (A52S)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
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 2432334	NM_000180.4(GUCY2D):c.156C>T (p.Ala52=)	GUCY2D	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2941930	NM_000180.4(GUCY2D):c.159G>A (p.Val53=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 143061	NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met)	GUCY2D (T55M)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +2 more	GConflicting classifications of pathogenicity
Select item 2937887	NM_000180.4(GUCY2D):c.165G>A (p.Thr55=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 1637605	NM_000180.4(GUCY2D):c.165G>T (p.Thr55=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
Select item 2097667	NM_000180.4(GUCY2D):c.169G>C (p.Gly57Arg)	GUCY2D (G57R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 2951180	NM_000180.4(GUCY2D):c.174C>T (p.Val58=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 1454622	NM_000180.4(GUCY2D):c.175del (p.Leu59fs)	GUCY2D (L59fs)	Deletion (frameshift variant)	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 974631	NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs)	GUCY2D (G60fs)	Insertion (frameshift variant)	Leber congenital amaurosis 1	GPathogenic
Select item 2184288	NM_000180.4(GUCY2D):c.177G>T (p.Leu59=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 1129161	NM_000180.4(GUCY2D):c.180C>T (p.Gly60=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 2923457	NM_000180.4(GUCY2D):c.185G>A (p.Trp62Ter)	GUCY2D (W62*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 1 +1 more	GPathogenic
Select item 2925598	NM_000180.4(GUCY2D):c.186G>A (p.Trp62Ter)	GUCY2D (W62*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 6 +1 more	GPathogenic
Select item 999818	NM_000180.4(GUCY2D):c.187G>A (p.Ala63Thr)	GUCY2D (A63T)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 2947066	NM_000180.4(GUCY2D):c.195C>T (p.Asp65=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign
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 941716	NM_000180.4(GUCY2D):c.206C>G (p.Ser69Cys)	GUCY2D (S69C)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 2945600	NM_000180.4(GUCY2D):c.207T>G (p.Ser69=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 2936818	NM_000180.4(GUCY2D):c.207T>C (p.Ser69=)	GUCY2D	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 6 +1 more	GLikely benign
Select item 2948739	NM_000180.4(GUCY2D):c.209G>C (p.Arg70Pro)	GUCY2D (R70P)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 2021817	NM_000180.4(GUCY2D):c.216C>T (p.Arg72=)	GUCY2D	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 1 +1 more	GLikely benign

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