ClinVar for Gene (Select 57447) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314640	NM_138331.2(RNASE8):c.44T>G (p.Leu15Arg)	NDRG2, RNASE8 (L15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314639	NM_032572.4(RNASE7):c.201C>G (p.Asp67Glu)	NDRG2, RNASE7 (D67E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314634	NM_001012264.4(RNASE13):c.359C>G (p.Pro120Arg)	NDRG2, RNASE13 +1 more (P120R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314633	NM_001012264.4(RNASE13):c.145C>T (p.Arg49Trp)	NDRG2, RNASE13 +1 more (R49W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298987	NM_001320329.2(NDRG2):c.256G>A (p.Glu86Lys)	NDRG2 (E82K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298986	NM_001320329.2(NDRG2):c.739C>T (p.Arg247Cys)	NDRG2 (R233C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298985	NM_001320329.2(NDRG2):c.1087C>A (p.Pro363Thr)	NDRG2 (P333T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298984	NM_001320329.2(NDRG2):c.635A>G (p.Glu212Gly)	LOC126861884, NDRG2 (E152G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	GUncertain significance
Select item 3186281	NM_001320329.2(NDRG2):c.719G>T (p.Arg240Leu)	NDRG2 (R180L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186273	NM_001320329.2(NDRG2):c.655A>C (p.Asn219His)	LOC126861884, NDRG2 (N219H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186269	NM_001320329.2(NDRG2):c.641T>C (p.Ile214Thr)	LOC126861884, NDRG2 (I210T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186265	NM_001320329.2(NDRG2):c.50C>T (p.Pro17Leu)	NDRG2 (P17L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186261	NM_001320329.2(NDRG2):c.454C>G (p.Leu152Val)	NDRG2 (L148V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186251	NM_001320329.2(NDRG2):c.304G>T (p.Ala102Ser)	NDRG2 (A102S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186240	NM_001320329.2(NDRG2):c.1076C>T (p.Ser359Phe)	NDRG2 (S299F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181579	NM_173846.5(TPPP2):c.406G>C (p.Glu136Gln)	NDRG2, TPPP2 (E136Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181578	NM_173846.5(TPPP2):c.32G>A (p.Arg11Gln)	NDRG2, TPPP2 (R11Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181577	NM_173846.5(TPPP2):c.306C>G (p.Asp102Glu)	NDRG2, TPPP2 (D102E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181576	NM_173846.5(TPPP2):c.305A>G (p.Asp102Gly)	NDRG2, TPPP2 (D102G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181575	NM_173846.5(TPPP2):c.227A>T (p.Glu76Val)	NDRG2, TPPP2 (E76V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181574	NM_173846.5(TPPP2):c.197C>T (p.Thr66Met)	NDRG2, TPPP2 (T66M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154857	NM_138331.2(RNASE8):c.370C>A (p.His124Asn)	NDRG2, RNASE8 (H124N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154856	NM_032572.4(RNASE7):c.280G>A (p.Asp94Asn)	NDRG2, RNASE7 (D94N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154844	NM_001012264.4(RNASE13):c.301A>G (p.Thr101Ala)	NDRG2, RNASE13 +1 more (T101A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154842	NM_001012264.4(RNASE13):c.20G>A (p.Arg7Gln)	NDRG2, RNASE13 +1 more (R7Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2605760	NM_001012264.4(RNASE13):c.317C>G (p.Ser106Cys)	NDRG2, RNASE13 +1 more (S106C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593065	NM_001320329.2(NDRG2):c.415A>G (p.Thr139Ala)	NDRG2 (T125A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592754	NM_032572.4(RNASE7):c.265G>T (p.Ala89Ser)	NDRG2, RNASE7 (A89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551071	NM_001320329.2(NDRG2):c.551A>G (p.His184Arg)	LOC126861884, NDRG2 (H184R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547811	NM_173846.5(TPPP2):c.188G>A (p.Arg63Gln)	NDRG2, TPPP2 (R63Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513152	NM_001012264.4(RNASE13):c.83G>A (p.Gly28Asp)	NDRG2, RNASE13 +1 more (G28D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493976	NM_173846.5(TPPP2):c.184G>A (p.Ala62Thr)	NDRG2, TPPP2 (A62T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476808	NM_173846.5(TPPP2):c.395A>C (p.Glu132Ala)	NDRG2, TPPP2 (E132A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456275	NM_173846.5(TPPP2):c.157G>A (p.Val53Met)	NDRG2, TPPP2 (V53M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456133	NM_173846.5(TPPP2):c.437G>A (p.Arg146Gln)	NDRG2, TPPP2 (R146Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	METTL3, ANG +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2409012	NM_032572.4(RNASE7):c.190C>T (p.Arg64Trp)	NDRG2, RNASE7 (R64W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399559	NM_001320329.2(NDRG2):c.182A>C (p.Lys61Thr)	NDRG2 (K61T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396243	NM_001320329.2(NDRG2):c.760A>G (p.Arg254Gly)	NDRG2 (R240G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395903	NM_001012264.4(RNASE13):c.371A>G (p.Tyr124Cys)	NDRG2, RNASE13 +1 more (Y124C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393910	NM_138331.2(RNASE8):c.161T>C (p.Met54Thr)	NDRG2, RNASE8 (M54T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393747	NM_032572.4(RNASE7):c.460A>G (p.Arg154Gly)	NDRG2, RNASE7 (R154G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392596	NM_138331.2(RNASE8):c.220C>T (p.Pro74Ser)	RNASE8, NDRG2 (P74S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2391061	NM_001320329.2(NDRG2):c.380T>C (p.Met127Thr)	NDRG2 (M67T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391006	NM_032572.4(RNASE7):c.429G>C (p.Gln143His)	NDRG2, RNASE7 (Q143H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383153	NM_001012264.4(RNASE13):c.400C>T (p.Leu134Phe)	RNASE13, NDRG2 +1 more (L134F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382925	NM_001320329.2(NDRG2):c.391G>A (p.Val131Ile)	NDRG2 (V131I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382293	NM_001320329.2(NDRG2):c.902G>A (p.Gly301Asp)	NDRG2 (A300T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361741	NM_173846.5(TPPP2):c.436C>T (p.Arg146Trp)	NDRG2, TPPP2 (R146W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359244	NM_001012264.4(RNASE13):c.75G>A (p.Met25Ile)	NDRG2, RNASE13 +1 more (M25I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356849	NM_001012264.4(RNASE13):c.461C>T (p.Ser154Leu)	NDRG2, RNASE13 +1 more (S154L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342231	NM_138331.2(RNASE8):c.115A>C (p.Lys39Gln)	NDRG2, RNASE8 (K39Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340895	NM_173846.5(TPPP2):c.148G>A (p.Val50Met)	NDRG2, TPPP2 (V50M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322801	NM_001320329.2(NDRG2):c.668A>G (p.His223Arg)	LOC126861884, NDRG2 (H223R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319800	NM_001320329.2(NDRG2):c.1087C>T (p.Pro363Ser)	NDRG2 (P349S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317285	NM_032572.4(RNASE7):c.467T>C (p.Leu156Pro)	RNASE7, NDRG2 (L156P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299067	NM_032572.4(RNASE7):c.76G>C (p.Val26Leu)	NDRG2, RNASE7 (V26L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294045	NM_032572.4(RNASE7):c.265G>A (p.Ala89Thr)	NDRG2, RNASE7 (A89T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2276525	NM_001012264.4(RNASE13):c.228T>A (p.His76Gln)	RNASE13, TPPP2 +1 more (H76Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250476	NM_001012264.4(RNASE13):c.7C>T (p.Pro3Ser)	NDRG2, RNASE13 +1 more (P3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244797	NM_173846.5(TPPP2):c.218C>T (p.Ala73Val)	NDRG2, TPPP2 (A73V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233943	NM_032572.4(RNASE7):c.191G>A (p.Arg64Gln)	NDRG2, RNASE7 (R64Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217061	NM_173846.5(TPPP2):c.251G>A (p.Gly84Glu)	NDRG2, TPPP2 (G84E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206778	NM_173846.5(TPPP2):c.476A>G (p.Tyr159Cys)	NDRG2, TPPP2 (Y159C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1807993	GRCh37/hg19 14q11.2(chr14:21349608-21618292)x3	ARHGEF40, METTL17 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527802	GRCh37/hg19 14q11.2(chr14:21451544-21962317)	ARHGEF40, CHD8 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815630	GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4	TOX4, ARHGEF40 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 776817	NM_173846.5(TPPP2):c.495C>G (p.Tyr165Ter)	NDRG2, TPPP2 (Y165*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 773852	NM_001320329.2(NDRG2):c.814-8T>C	NDRG2 (L287S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 723324	NM_001320329.2(NDRG2):c.192G>T (p.Ala64=)	NDRG2 (R10L)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 715663	NM_001320329.2(NDRG2):c.133A>T (p.Thr45Ser)	NDRG2 (T31S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 689180	GRCh37/hg19 14q11.2(chr14:21490055-21962265)x3	ARHGEF40, CHD8 +13 more	Copy number gain	not provided	GUncertain significance
Select item 687290	GRCh37/hg19 14q11.2(chr14:21424506-21589630)x3	ARHGEF40, METTL17 +9 more	Copy number gain	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564121	GRCh37/hg19 14q11.2(chr14:21417035-21962317)x3	SUPT16H, TMEM253 +16 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253894	GRCh37/hg19 14q11.2(chr14:20978713-21575128)x3	ANG, ARHGEF40 +25 more	Copy number gain	See cases	GUncertain significance
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 150080	GRCh38/hg38 14q11.2(chr14:21038933-21428431)x3	ARHGEF40, CHD8 +22 more	Copy number gain	See cases	GUncertain significance
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 58305	GRCh38/hg38 14q11.2(chr14:21058251-21384204)x3	ARHGEF40, HNRNPC +17 more	Copy number gain	See cases	GUncertain significance

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