ClinVar for Gene (Select 65992) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3080841	NM_023935.3(DDRGK1):c.89C>T (p.Ser30Leu)	DDRGK1, ITPA +1 more (S30L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080840	NM_023935.3(DDRGK1):c.871A>G (p.Ile291Val)	DDRGK1 (I291V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080838	NM_023935.3(DDRGK1):c.610G>C (p.Gly204Arg)	DDRGK1 (G204R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080837	NM_023935.3(DDRGK1):c.583G>T (p.Ala195Ser)	DDRGK1 (A195S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080836	NM_023935.3(DDRGK1):c.566A>G (p.Tyr189Cys)	DDRGK1 (Y189C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080835	NM_023935.3(DDRGK1):c.494T>C (p.Leu165Pro)	DDRGK1 (L165P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080833	NM_023935.3(DDRGK1):c.389C>G (p.Ala130Gly)	DDRGK1 (A130G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080832	NM_023935.3(DDRGK1):c.104C>T (p.Pro35Leu)	DDRGK1 (P35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062412	GRCh37/hg19 20p13(chr20:3169728-3642646)x1	ATRN, DDRGK1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	CSTL1, DDRGK1 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	ADAM33, ADISSP +114 more	Copy number gain	not provided	GPathogenic
Select item 3016973	NM_023935.3(DDRGK1):c.15G>T (p.Val5=)	DDRGK1, ITPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010046	NM_023935.3(DDRGK1):c.474G>A (p.Lys158=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983976	NM_023935.3(DDRGK1):c.673-14C>T	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983863	NM_023935.3(DDRGK1):c.936C>T (p.Ala312=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975323	NM_023935.3(DDRGK1):c.93C>T (p.Ala31=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963105	NM_023935.3(DDRGK1):c.510+12C>G	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955363	NM_023935.3(DDRGK1):c.327G>A (p.Ala109=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883666	NM_023935.3(DDRGK1):c.456C>T (p.Arg152=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878985	NM_023935.3(DDRGK1):c.511-8G>A	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875647	NM_023935.3(DDRGK1):c.510+2T>G	DDRGK1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2826541	NM_023935.3(DDRGK1):c.222A>G (p.Leu74=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808581	NM_023935.3(DDRGK1):c.730-16G>A	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801083	NM_023935.3(DDRGK1):c.91+19C>G	DDRGK1, ITPA +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799941	NM_023935.3(DDRGK1):c.730-13G>C	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791200	NM_023935.3(DDRGK1):c.883G>A (p.Ala295Thr)	DDRGK1 (A295T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786319	NM_023935.3(DDRGK1):c.673-8T>C	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781294	NM_023935.3(DDRGK1):c.274G>A (p.Glu92Lys)	DDRGK1 (E92K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780625	NM_023935.3(DDRGK1):c.246G>A (p.Arg82=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719131	NM_023935.3(DDRGK1):c.174G>A (p.Pro58=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699117	NM_023935.3(DDRGK1):c.834C>T (p.Ala278=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684901	GRCh37/hg19 20p13(chr20:3173504-3385006)x3	DDRGK1, DNAAF9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2652167	NM_023935.3(DDRGK1):c.444C>G (p.Leu148=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2427137	NC_000020.10:g.(?_3063276)_(3218325_?)dup	AVP, DDRGK1 +5 more	Duplication	Inosine triphosphatase deficiency	GUncertain significance
Select item 2427136	NC_000020.10:g.(?_3183839)_(3190283_?)dup	DDRGK1, ITPA	Duplication	Inosine triphosphatase deficiency	GUncertain significance
Select item 2426797	NC_000020.10:g.(?_3063276)_(3903941_?)del	ADAM33, ADISSP +19 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2417226	NM_023935.3(DDRGK1):c.722G>A (p.Arg241His)	DDRGK1 (R241H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2415102	NM_023935.3(DDRGK1):c.20A>T (p.Tyr7Phe)	DDRGK1, ITPA (Y7F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2411980	NM_023935.3(DDRGK1):c.862C>T (p.Arg288Trp)	DDRGK1 (R288W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399823	NM_023935.3(DDRGK1):c.917G>A (p.Arg306Gln)	DDRGK1 (R306Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2280912	NM_023935.3(DDRGK1):c.136C>T (p.Arg46Trp)	DDRGK1 (R46W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2240275	NM_023935.3(DDRGK1):c.472A>C (p.Lys158Gln)	DDRGK1 (K158Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230110	NM_023935.3(DDRGK1):c.437A>C (p.Lys146Thr)	DDRGK1 (K146T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226242	NM_023935.3(DDRGK1):c.365T>C (p.Leu122Pro)	DDRGK1 (L122P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219143	NM_023935.3(DDRGK1):c.823G>A (p.Glu275Lys)	DDRGK1 (E275K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202112	NM_023935.3(DDRGK1):c.876C>T (p.Ala292=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192714	NM_023935.3(DDRGK1):c.522G>A (p.Glu174=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186858	NM_023935.3(DDRGK1):c.316G>A (p.Glu106Lys)	DDRGK1 (E106K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166514	NM_023935.3(DDRGK1):c.65C>T (p.Thr22Ile)	DDRGK1, ITPA +1 more (T22I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2141479	NM_023935.3(DDRGK1):c.454C>T (p.Arg152Cys)	DDRGK1 (R152C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132342	NM_023935.3(DDRGK1):c.510+11C>T	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094956	NM_023935.3(DDRGK1):c.779-3C>A	DDRGK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2073894	NM_023935.3(DDRGK1):c.391C>T (p.Arg131Ter)	DDRGK1 (R131*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2073112	NM_023935.3(DDRGK1):c.702G>A (p.Leu234=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038254	NM_023935.3(DDRGK1):c.273C>G (p.Asn91Lys)	DDRGK1 (N91K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2027833	NM_023935.3(DDRGK1):c.409-6C>G	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022893	NM_023935.3(DDRGK1):c.847A>T (p.Ile283Phe)	DDRGK1 (I283F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005574	NM_023935.3(DDRGK1):c.73C>T (p.Arg25Trp)	DDRGK1, ITPA +1 more (R25W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986327	NM_023935.3(DDRGK1):c.54C>T (p.Ile18=)	DDRGK1, ITPA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973929	NM_023935.3(DDRGK1):c.425G>C (p.Arg142Pro)	DDRGK1 (R142P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968866	NM_023935.3(DDRGK1):c.557A>G (p.His186Arg)	DDRGK1 (H186R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966544	NM_023935.3(DDRGK1):c.793C>A (p.Arg265=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953932	NM_023935.3(DDRGK1):c.86C>T (p.Ala29Val)	DDRGK1, LOC130065321 +1 more (A29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944565	NM_023935.3(DDRGK1):c.536A>G (p.Glu179Gly)	DDRGK1 (E179G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937001	NM_023935.3(DDRGK1):c.634-19G>C	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926897	NM_023935.3(DDRGK1):c.440G>A (p.Arg147Gln)	DDRGK1 (R147Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920299	NM_023935.3(DDRGK1):c.408+8G>A	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914625	NM_023935.3(DDRGK1):c.793C>T (p.Arg265Trp)	DDRGK1 (R265W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1907359	NM_023935.3(DDRGK1):c.707C>T (p.Ser236Phe)	DDRGK1 (S236F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1895797	NM_023935.3(DDRGK1):c.518A>G (p.Glu173Gly)	DDRGK1 (E173G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895765	NM_023935.3(DDRGK1):c.779-17C>T	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706505	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	SPEF1, UBOX5 +26 more	Copy number gain	See cases	GUncertain significance
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1671780	NM_023935.3(DDRGK1):c.519G>A (p.Glu173=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1670724	NM_023935.3(DDRGK1):c.78C>T (p.Gly26=)	DDRGK1, ITPA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659355	NM_023935.3(DDRGK1):c.729+15G>T	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651470	NM_023935.3(DDRGK1):c.408+15T>G	DDRGK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1647945	NM_023935.3(DDRGK1):c.907G>A (p.Ala303Thr)	DDRGK1 (A303T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1641903	NM_023935.3(DDRGK1):c.673-11T>C	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634713	NM_023935.3(DDRGK1):c.480G>A (p.Glu160=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634366	NM_023935.3(DDRGK1):c.491G>T (p.Arg164Leu)	DDRGK1 (R164L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1628612	NM_023935.3(DDRGK1):c.91+9T>A	DDRGK1, ITPA +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1626368	NM_023935.3(DDRGK1):c.409-9TC[2]	DDRGK1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1625235	NM_023935.3(DDRGK1):c.510+14C>T	DDRGK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1622717	NM_023935.3(DDRGK1):c.730-10C>T	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1621512	NM_023935.3(DDRGK1):c.672+19G>A	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1617112	NM_023935.3(DDRGK1):c.408+16G>C	DDRGK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1604325	NM_023935.3(DDRGK1):c.504G>A (p.Glu168=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601852	NM_023935.3(DDRGK1):c.673-6T>C	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601082	NM_023935.3(DDRGK1):c.444C>T (p.Leu148=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1598754	NM_023935.3(DDRGK1):c.433C>T (p.Arg145Trp)	DDRGK1 (R145W)	Single nucleotide variant (missense variant)	DDRGK1-related disorder +1 more	GBenign
Select item 1597975	NM_023935.3(DDRGK1):c.409-19del	DDRGK1	Deletion (intron variant)	not provided	GBenign
Select item 1595691	NM_023935.3(DDRGK1):c.906C>T (p.Ile302=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590916	NM_023935.3(DDRGK1):c.30G>C (p.Ala10=)	DDRGK1, ITPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585248	NM_023935.3(DDRGK1):c.673-16C>G	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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