DDRGK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 154523	GRCh38/hg38 20p13(chr20:3177313-3849958)x1	ADAM33, ADISSP +45 more	Copy number loss	See cases	GUncertain significance
Select item 145587	GRCh38/hg38 20p13(chr20:3177313-3734506)x1	ADAM33, ATRN +24 more	Copy number loss	See cases	GUncertain significance
Select item 2983863	NM_023935.3(DDRGK1):c.936C>T (p.Ala312=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1647945	NM_023935.3(DDRGK1):c.907G>A (p.Ala303Thr)	DDRGK1 (A303T)	Single nucleotide variant (missense 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 1515673	NM_023935.3(DDRGK1):c.904A>G (p.Ile302Val)	DDRGK1 (I302V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2202112	NM_023935.3(DDRGK1):c.876C>T (p.Ala292=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1362899	NM_023935.3(DDRGK1):c.874G>A (p.Ala292Thr)	DDRGK1 (A292T)	Single nucleotide variant (missense variant)	not provided	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 2411980	NM_023935.3(DDRGK1):c.862C>T (p.Arg288Trp)	DDRGK1 (R288W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1471614	NM_023935.3(DDRGK1):c.836T>C (p.Val279Ala)	DDRGK1 (V279A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436265	NM_023935.3(DDRGK1):c.835G>A (p.Val279Met)	DDRGK1 (V279M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2699117	NM_023935.3(DDRGK1):c.834C>T (p.Ala278=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1489035	NM_023935.3(DDRGK1):c.811A>G (p.Ile271Val)	DDRGK1 (I271V)	Single nucleotide variant (missense variant)	not provided +1 more	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 1914625	NM_023935.3(DDRGK1):c.793C>T (p.Arg265Trp)	DDRGK1 (R265W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2094956	NM_023935.3(DDRGK1):c.779-3C>A	DDRGK1	Single nucleotide variant (intron 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 1445175	NM_023935.3(DDRGK1):c.743G>A (p.Arg248His)	DDRGK1 (R248H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378839	NM_023935.3(DDRGK1):c.742C>T (p.Arg248Cys)	DDRGK1 (R248C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405904	NM_023935.3(DDRGK1):c.730-3T>C	DDRGK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1622717	NM_023935.3(DDRGK1):c.730-10C>T	DDRGK1	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 2808581	NM_023935.3(DDRGK1):c.730-16G>A	DDRGK1	Single nucleotide variant (intron 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 2417226	NM_023935.3(DDRGK1):c.722G>A (p.Arg241His)	DDRGK1 (R241H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2073112	NM_023935.3(DDRGK1):c.702G>A (p.Leu234=)	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 2786319	NM_023935.3(DDRGK1):c.673-8T>C	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641903	NM_023935.3(DDRGK1):c.673-11T>C	DDRGK1	Single nucleotide variant (intron 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 1585248	NM_023935.3(DDRGK1):c.673-16C>G	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 1937001	NM_023935.3(DDRGK1):c.634-19G>C	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1559858	NM_023935.3(DDRGK1):c.607G>A (p.Val203Ile)	DDRGK1 (V203I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1363417	NM_023935.3(DDRGK1):c.605G>A (p.Gly202Asp)	DDRGK1 (G202D)	Single nucleotide variant (missense variant)	not provided +1 more	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 1968866	NM_023935.3(DDRGK1):c.557A>G (p.His186Arg)	DDRGK1 (H186R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437991	NM_023935.3(DDRGK1):c.550C>T (p.Arg184Trp)	DDRGK1 (R184W)	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 777516	NM_023935.3(DDRGK1):c.534C>T (p.Arg178=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2192714	NM_023935.3(DDRGK1):c.522G>A (p.Glu174=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671780	NM_023935.3(DDRGK1):c.519G>A (p.Glu173=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2878985	NM_023935.3(DDRGK1):c.511-8G>A	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255464	NM_023935.3(DDRGK1):c.511-10A>G	DDRGK1	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Shohat type +1 more	GBenign
Select item 1625235	NM_023935.3(DDRGK1):c.510+14C>T	DDRGK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2963105	NM_023935.3(DDRGK1):c.510+12C>G	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132342	NM_023935.3(DDRGK1):c.510+11C>T	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 3271228	NM_023935.3(DDRGK1):c.508A>G (p.Lys170Glu)	DDRGK1 (K170E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1604325	NM_023935.3(DDRGK1):c.504G>A (p.Glu168=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1634366	NM_023935.3(DDRGK1):c.491G>T (p.Arg164Leu)	DDRGK1 (R164L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1480765	NM_023935.3(DDRGK1):c.491G>A (p.Arg164His)	DDRGK1 (R164H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469348	NM_023935.3(DDRGK1):c.485G>A (p.Arg162Gln)	DDRGK1 (R162Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634713	NM_023935.3(DDRGK1):c.480G>A (p.Glu160=)	DDRGK1	Single nucleotide variant (synonymous variant)	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 2240275	NM_023935.3(DDRGK1):c.472A>C (p.Lys158Gln)	DDRGK1 (K158Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2883666	NM_023935.3(DDRGK1):c.456C>T (p.Arg152=)	DDRGK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2652167	NM_023935.3(DDRGK1):c.444C>G (p.Leu148=)	DDRGK1	Single nucleotide variant (synonymous 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 1926897	NM_023935.3(DDRGK1):c.440G>A (p.Arg147Gln)	DDRGK1 (R147Q)	Single nucleotide variant (missense variant)	not provided	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 1496866	NM_023935.3(DDRGK1):c.434G>A (p.Arg145Gln)	DDRGK1 (R145Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598754	NM_023935.3(DDRGK1):c.433C>T (p.Arg145Trp)	DDRGK1 (R145W)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1626368	NM_023935.3(DDRGK1):c.409-9TC[2]	DDRGK1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2027833	NM_023935.3(DDRGK1):c.409-6C>G	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1597975	NM_023935.3(DDRGK1):c.409-19del	DDRGK1	Deletion (intron variant)	not provided	GBenign
Select item 1617112	NM_023935.3(DDRGK1):c.408+16G>C	DDRGK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1651470	NM_023935.3(DDRGK1):c.408+15T>G	DDRGK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1920299	NM_023935.3(DDRGK1):c.408+8G>A	DDRGK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 487527	NM_023935.3(DDRGK1):c.408+1G>A	DDRGK1	Single nucleotide variant (splice donor variant)	Spondyloepimetaphyseal dysplasia, Shohat type	GPathogenic
Select item 1481341	NM_023935.3(DDRGK1):c.406G>A (p.Glu136Lys)	DDRGK1 (E136K)	Single nucleotide variant (missense 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 3080833	NM_023935.3(DDRGK1):c.389C>G (p.Ala130Gly)	DDRGK1 (A130G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1415379	NM_023935.3(DDRGK1):c.368G>A (p.Arg123Gln)	DDRGK1 (R123Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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