79947[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 297068	NM_024887.3(DHDDS):c.-150G>A	DHDDS	Single nucleotide variant	Retinitis pigmentosa +1 more	GBenign
Select item 297069	NM_024887.3(DHDDS):c.-143C>T	DHDDS	Single nucleotide variant	Retinitis pigmentosa	GUncertain significance
Select item 297070	NM_024887.3(DHDDS):c.-119G>A	DHDDS	Single nucleotide variant	Retinitis pigmentosa	GLikely benign
Select item 1257348	NM_205861.3(DHDDS):c.-55-233A>G	DHDDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 297071	NM_205861.3(DHDDS):c.-53T>G	DHDDS	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 873594	NM_205861.3(DHDDS):c.-37G>A	DHDDS	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 2748815	NM_205861.3(DHDDS):c.1_2del (p.Met1fs)	DHDDS (M1fs)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1639325	NM_205861.3(DHDDS):c.6A>G (p.Ser2=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2859905	NM_205861.3(DHDDS):c.12C>T (p.Ile4=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2095063	NM_205861.3(DHDDS):c.19G>A (p.Gly7Arg)	DHDDS (G7R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1006648	NM_205861.3(DHDDS):c.20G>A (p.Gly7Glu)	DHDDS (G7E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1524183	NM_205861.3(DHDDS):c.22G>C (p.Glu8Gln)	DHDDS (E8Q)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 539145	NM_205861.3(DHDDS):c.33T>C (p.Leu11=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2753701	NM_205861.3(DHDDS):c.40C>A (p.Arg14=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2557928	NM_205861.3(DHDDS):c.40C>G (p.Arg14Gly)	DHDDS (R14G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2440758	NM_205861.3(DHDDS):c.40C>T (p.Arg14Trp)	DHDDS (R14W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2006307	NM_205861.3(DHDDS):c.42G>A (p.Arg14=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 1104417	NM_205861.3(DHDDS):c.42G>C (p.Arg14=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2762104	NM_205861.3(DHDDS):c.44T>A (p.Phe15Tyr)	DHDDS (F15Y)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 729267	NM_205861.3(DHDDS):c.45C>T (p.Phe15=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2030589	NM_205861.3(DHDDS):c.51C>T (p.Ala17=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 873595	NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser)	DHDDS (N18S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 2501404	NM_205861.3(DHDDS):c.54C>A (p.Asn18Lys)	DHDDS (N18K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2819952	NM_205861.3(DHDDS):c.56T>G (p.Ile19Ser)	DHDDS (I19S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 745841	NM_205861.3(DHDDS):c.57C>T (p.Ile19=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 1433320	NM_205861.3(DHDDS):c.58A>G (p.Ile20Val)	DHDDS (I20V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1333480	NM_205861.3(DHDDS):c.63G>T (p.Lys21Asn)	DHDDS (K21N)	Single nucleotide variant (missense variant +1 more)	Developmental delay and seizures with or without movement abnormalities	GUncertain significance
Select item 2955232	NM_205861.3(DHDDS):c.63+6C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 2130402	NM_205861.3(DHDDS):c.63+9T>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 1640266	NM_205861.3(DHDDS):c.63+11del	DHDDS	Deletion (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 1612505	NM_205861.3(DHDDS):c.63+13C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2900129	NM_205861.3(DHDDS):c.63+18G>A	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2112452	NM_205861.3(DHDDS):c.63+19C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 1241838	NM_205861.3(DHDDS):c.64-212G>A	DHDDS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1952874	NM_205861.3(DHDDS):c.64-20T>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2825431	NM_205861.3(DHDDS):c.64-19T>G	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2740178	NM_205861.3(DHDDS):c.64-19T>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 1556507	NM_205861.3(DHDDS):c.64-12C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 1457435	NM_205861.3(DHDDS):c.64-12C>A	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 3000922	NM_205861.3(DHDDS):c.64-11C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 1154693	NM_205861.3(DHDDS):c.64-9A>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 1112527	NM_205861.3(DHDDS):c.64-7T>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2829410	NM_205861.3(DHDDS):c.64-6C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2134490	NM_205861.3(DHDDS):c.64-3C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 1005856	NM_205861.3(DHDDS):c.65C>T (p.Ala22Val)	DHDDS (A22V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1446730	NM_205861.3(DHDDS):c.74T>G (p.Met25Arg)	DHDDS (M25R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59 +1 more	GUncertain significance
Select item 2033524	NM_205861.3(DHDDS):c.77C>T (p.Pro26Leu)	DHDDS (P26L)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1097039	NM_205861.3(DHDDS):c.78G>A (p.Pro26=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 1717341	NM_205861.3(DHDDS):c.79A>C (p.Lys27Gln)	DHDDS (K27Q)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1635197	NM_205861.3(DHDDS):c.81A>G (p.Lys27=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 1018106	NM_205861.3(DHDDS):c.85A>G (p.Ile29Val)	DHDDS (I29V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1402214	NM_205861.3(DHDDS):c.86T>C (p.Ile29Thr)	DHDDS (I29T)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 2744417	NM_205861.3(DHDDS):c.91T>C (p.Phe31Leu)	DHDDS (F31L)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1671953	NM_205861.3(DHDDS):c.93C>T (p.Phe31=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2995939	NM_205861.3(DHDDS):c.94A>G (p.Ile32Val)	DHDDS (I32V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 2021747	NM_205861.3(DHDDS):c.100del (p.Asp34fs)	DHDDS (D34fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 59	GPathogenic
Select item 3256789	NM_205861.3(DHDDS):c.102C>A (p.Asp34Glu)	DHDDS (D34E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GLikely pathogenic
Select item 1460528	NM_205861.3(DHDDS):c.102C>T (p.Asp34=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2859120	NM_205861.3(DHDDS):c.103G>C (p.Gly35Arg)	DHDDS (G35R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 985622	NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu)	DHDDS (G35E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 2712333	NM_205861.3(DHDDS):c.108C>T (p.Asn36=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 1214981	NM_205861.3(DHDDS):c.109C>T (p.Arg37Cys)	DHDDS (R37C)	Single nucleotide variant (missense variant +1 more)	Developmental delay and seizures with or without movement abnormalities +2 more	GPathogenic
Select item 546177	NM_205861.3(DHDDS):c.109C>A (p.Arg37Ser)	DHDDS (R37S)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2814659	NM_205861.3(DHDDS):c.110G>T (p.Arg37Leu)	DHDDS (R37L)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 451635	NM_205861.3(DHDDS):c.110G>A (p.Arg37His)	DHDDS (R37H)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59 +2 more	GPathogenic/Likely pathogenic
Select item 1113298	NM_205861.3(DHDDS):c.111T>G (p.Arg37=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 1467791	NM_205861.3(DHDDS):c.112C>T (p.Arg38Cys)	DHDDS (R38C)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59 +2 more	GConflicting classifications of pathogenicity
Select item 807406	NM_205861.3(DHDDS):c.113G>A (p.Arg38His)	DHDDS (R38H)	Single nucleotide variant (missense variant +1 more)	Developmental delay and seizures with or without movement abnormalities	GPathogenic/Likely pathogenic
Select item 1936456	NM_205861.3(DHDDS):c.117T>C (p.Tyr39=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2817352	NM_205861.3(DHDDS):c.120C>G (p.Ala40=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 30709	NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	DHDDS (K42E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59 +3 more	GPathogenic
Select item 3007141	NM_205861.3(DHDDS):c.125A>G (p.Lys42Arg)	DHDDS (K42R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1539844	NM_205861.3(DHDDS):c.126G>A (p.Lys42=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2638523	NM_205861.3(DHDDS):c.132G>A (p.Gln44=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2069340	NM_205861.3(DHDDS):c.135G>T (p.Val45=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 1663421	NM_205861.3(DHDDS):c.138G>A (p.Glu46=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2104068	NM_205861.3(DHDDS):c.139C>A (p.Arg47=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 1422551	NM_205861.3(DHDDS):c.139C>T (p.Arg47Trp)	DHDDS (R47W)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59 +1 more	GUncertain significance
Select item 283914	NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln)	DHDDS (R47Q)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59 +2 more	GConflicting classifications of pathogenicity
Select item 2755952	NM_205861.3(DHDDS):c.141G>A (p.Arg47=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 1373800	NM_205861.3(DHDDS):c.143A>G (p.Gln48Arg)	DHDDS (Q48R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 2766852	NM_205861.3(DHDDS):c.144G>A (p.Gln48=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2051201	NM_205861.3(DHDDS):c.144G>C (p.Gln48His)	DHDDS (Q48H)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1721142	NM_205861.3(DHDDS):c.148G>A (p.Gly50Ser)	DHDDS (G50S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 2694514	NM_205861.3(DHDDS):c.153C>T (p.His51=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2905977	NM_205861.3(DHDDS):c.155C>T (p.Ser52Leu)	DHDDS (S52L)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 297072	NM_205861.3(DHDDS):c.157C>G (p.Gln53Glu)	DHDDS (Q53E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 2744561	NM_205861.3(DHDDS):c.161G>T (p.Gly54Val)	DHDDS (G54V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1187979	NM_205861.3(DHDDS):c.161_162delinsAA (p.Gly54Glu)	DHDDS (G54E)	Indel (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2105423	NM_205861.3(DHDDS):c.167A>G (p.Asn56Ser)	DHDDS (N56S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 2700465	NM_205861.3(DHDDS):c.168C>T (p.Asn56=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 3028656	NM_205861.3(DHDDS):c.170A>G (p.Lys57Arg)	DHDDS (K57R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3018657	NM_205861.3(DHDDS):c.171G>A (p.Lys57=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 1958553	NM_205861.3(DHDDS):c.177T>C (p.Ala59=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2102266	NM_205861.3(DHDDS):c.180+6dup	DHDDS	Duplication (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2019256	NM_205861.3(DHDDS):c.180+8T>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 3011916	NM_205861.3(DHDDS):c.180+9G>A	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 1646672	NM_205861.3(DHDDS):c.180+9G>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign

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