PDE6H[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007339, LOC130007340 +698 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 307779	NM_006205.2(PDE6H):c.-102G>T	PDE6H	Single nucleotide variant	Cone dystrophy 3	GUncertain significance
Select item 883444	NM_006205.3(PDE6H):c.-73C>A	PDE6H	Single nucleotide variant (5 prime UTR variant)	Retinal cone dystrophy 3A	GBenign
Select item 307780	NM_006205.3(PDE6H):c.-59G>C	PDE6H	Single nucleotide variant (5 prime UTR variant)	Retinal cone dystrophy 3A	GBenign
Select item 883445	NM_006205.3(PDE6H):c.-42C>T	PDE6H	Single nucleotide variant (5 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 307781	NM_006205.3(PDE6H):c.-29G>C	PDE6H	Single nucleotide variant (5 prime UTR variant)	Retinal cone dystrophy 3A +1 more	GBenign/Likely benign
Select item 2132603	NM_006205.3(PDE6H):c.3G>C (p.Met1Ile)	PDE6H (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1914873	NM_006205.3(PDE6H):c.9C>G (p.Asp3Glu)	PDE6H (D3E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717469	NM_006205.3(PDE6H):c.32C>T (p.Ala11Val)	PDE6H (A11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 37245	NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)	PDE6H (S12*)	Single nucleotide variant (nonsense)	PDE6H-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 1037849	NM_006205.3(PDE6H):c.43G>T (p.Gly15Cys)	PDE6H (G15C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078803	NM_006205.3(PDE6H):c.46C>T (p.Pro16Ser)	PDE6H (P16S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2313402	NM_006205.3(PDE6H):c.53C>T (p.Thr18Ile)	PDE6H (T18I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1011369	NM_006205.3(PDE6H):c.58C>T (p.Arg20Cys)	PDE6H (R20C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348429	NM_006205.3(PDE6H):c.59G>T (p.Arg20Leu)	PDE6H (R20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 883446	NM_006205.3(PDE6H):c.59G>A (p.Arg20His)	PDE6H (R20H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1044479	NM_006205.3(PDE6H):c.61A>G (p.Lys21Glu)	PDE6H (K21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 763984	NM_006205.3(PDE6H):c.72C>G (p.Pro24=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790999	NM_006205.3(PDE6H):c.90G>A (p.Gln30=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1350820	NM_006205.3(PDE6H):c.95G>A (p.Arg32His)	PDE6H (R32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1118089	NM_006205.3(PDE6H):c.99A>G (p.Gln33=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015800	NM_006205.3(PDE6H):c.112C>A (p.Pro38Thr)	PDE6H (P38T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109994	NM_006205.3(PDE6H):c.116C>G (p.Pro39Arg)	PDE6H (P39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1150936	NM_006205.3(PDE6H):c.117A>G (p.Pro39=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953021	NM_006205.3(PDE6H):c.124G>A (p.Gly42Ser)	PDE6H (G42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355392	NM_006205.3(PDE6H):c.125G>A (p.Gly42Asp)	PDE6H (G42D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505184	NM_006205.3(PDE6H):c.128T>A (p.Val43Glu)	PDE6H (V43E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393447	NM_006205.3(PDE6H):c.134+6A>G	PDE6H	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2121466	NM_006205.3(PDE6H):c.134+17A>G	PDE6H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937776	NM_006205.3(PDE6H):c.134+17A>T	PDE6H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965526	NM_006205.3(PDE6H):c.135-11C>G	PDE6H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1094831	NM_006205.3(PDE6H):c.135-5C>T	PDE6H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978296	NM_006205.3(PDE6H):c.135-4A>G	PDE6H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1006243	NM_006205.3(PDE6H):c.135A>G (p.Gly45=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 969150	NM_006205.3(PDE6H):c.141A>T (p.Gly47=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084510	NM_006205.3(PDE6H):c.158T>G (p.Met53Arg)	PDE6H (M53R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115316	NM_006205.3(PDE6H):c.164G>A (p.Gly55Glu)	PDE6H (G55E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847786	NM_006205.3(PDE6H):c.165G>T (p.Gly55=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027831	NM_006205.3(PDE6H):c.168A>G (p.Leu56=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1017792	NM_006205.3(PDE6H):c.172A>G (p.Thr58Ala)	PDE6H (T58A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1128709	NM_006205.3(PDE6H):c.175+10C>G	PDE6H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674001	NM_006205.3(PDE6H):c.176-19C>G	LOC130007501, PDE6H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772498	NM_006205.3(PDE6H):c.176-4G>T	PDE6H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1124710	NM_006205.3(PDE6H):c.176-4G>A	PDE6H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1063229	NM_006205.3(PDE6H):c.176A>G (p.Asp59Gly)	PDE6H (D59G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 853400	NM_006205.3(PDE6H):c.179T>G (p.Ile60Ser)	PDE6H (I60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 307782	NM_006205.3(PDE6H):c.195A>G (p.Pro65=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1128415	NM_006205.3(PDE6H):c.204A>G (p.Ala68=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1635247	NM_006205.3(PDE6H):c.213C>T (p.His71=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 964136	NM_006205.3(PDE6H):c.214C>A (p.Leu72Met)	PDE6H (L72M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093864	NM_006205.3(PDE6H):c.224A>G (p.His75Arg)	PDE6H (H75R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663549	NM_006205.3(PDE6H):c.228G>A (p.Glu76=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1037397	NM_006205.3(PDE6H):c.229C>T (p.Leu77Phe)	PDE6H (L77F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139048	NM_006205.3(PDE6H):c.232G>A (p.Ala78Thr)	PDE6H (A78T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 881091	NM_006205.3(PDE6H):c.232G>T (p.Ala78Ser)	PDE6H (A78S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2021450	NM_006205.3(PDE6H):c.235C>T (p.Gln79Ter)	PDE6H (Q79*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1098417	NM_006205.3(PDE6H):c.237G>C (p.Gln79His)	PDE6H (Q79H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2091361	NM_006205.3(PDE6H):c.240T>C (p.Phe80=)	PDE6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 450247	NM_006205.3(PDE6H):c.247A>C (p.Ile83Leu)	PDE6H (I83L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 307783	NM_006205.3(PDE6H):c.*47G>C	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 307784	NM_006205.3(PDE6H):c.*71C>T	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 307785	NM_006205.3(PDE6H):c.*77C>G	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 307786	NM_006205.3(PDE6H):c.*134G>A	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 307787	NM_006205.3(PDE6H):c.*301A>G	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GBenign
Select item 307788	NM_006205.3(PDE6H):c.*319T>C	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GBenign
Select item 307789	NM_006205.3(PDE6H):c.*358T>G	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 307790	NM_006205.3(PDE6H):c.*369A>G	PDE6H	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 3A	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	RECQL, RERG +85 more	Copy number loss	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1440295	NC_000012.11:g.(?_14849146)_(15669910_?)dup	ARHGDIB, ART4 +11 more	Duplication	not provided	GUncertain significance
Select item 1436741	NC_000012.11:g.(?_11803062)_(15835885_?)dup	APOLD1, ARHGDIB +32 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 815505	GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	APOLD1, ARHGDIB +37 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	A2M, A2ML1 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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