PRUNE2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59108	GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1	ALDH1A1, ANXA1 +90 more	Copy number loss	See cases	GPathogenic
Select item 59109	GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1	C9orf40, CARNMT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 148903	GRCh38/hg38 9q21.13-21.2(chr9:76127281-76968483)x1	GCNT1, LOC113839560 +24 more	Copy number loss	See cases	GUncertain significance
Select item 155038	GRCh38/hg38 9q21.13-21.2(chr9:76235414-76751538)x3	GCNT1, LOC113839560 +19 more	Copy number gain	See cases	GUncertain significance
Select item 3220059	NM_015225.3(PRUNE2):c.9220T>A (p.Ser3074Thr)	PRUNE2 (S339T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474455	NM_015225.3(PRUNE2):c.9208G>C (p.Asp3070His)	PRUNE2 (D319H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590375	NM_015225.3(PRUNE2):c.9083A>G (p.Asn3028Ser)	PRUNE2 (N293S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3220058	NM_015225.3(PRUNE2):c.8962C>T (p.Arg2988Trp)	PRUNE2 (R2992W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348518	NM_015225.3(PRUNE2):c.8875A>G (p.Met2959Val)	PRUNE2 (M208V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220057	NM_015225.3(PRUNE2):c.8810A>G (p.Tyr2937Cys)	PRUNE2 (Y201C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220056	NM_015225.3(PRUNE2):c.8807A>G (p.His2936Arg)	PRUNE2 (H201R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216114	NM_015225.3(PRUNE2):c.8795G>A (p.Arg2932Gln)	PRUNE2 (R2932Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494411	NM_015225.3(PRUNE2):c.8751T>A (p.Asn2917Lys)	PRUNE2 (N166K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210181	NM_015225.3(PRUNE2):c.8725G>A (p.Gly2909Arg)	PRUNE2 (G2910R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412417	NM_015225.3(PRUNE2):c.8711G>A (p.Arg2904Lys)	PRUNE2 (R153K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607792	NM_015225.3(PRUNE2):c.8641C>G (p.Leu2881Val)	PRUNE2 (L146V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470159	NM_015225.3(PRUNE2):c.8468A>G (p.Asp2823Gly)	PRUNE2 (D2823G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268027	NM_015225.3(PRUNE2):c.8393C>G (p.Pro2798Arg)	PRUNE2 (P2798R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360410	NM_015225.3(PRUNE2):c.8327T>C (p.Leu2776Pro)	PRUNE2 (L25P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220054	NM_015225.3(PRUNE2):c.8320G>A (p.Gly2774Ser)	PRUNE2 (G2774S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769753	NM_015225.3(PRUNE2):c.8277-8T>G	PRUNE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768305	NM_015225.3(PRUNE2):c.8216C>T (p.Thr2739Met)	PRUNE2 (T2739M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2303619	NM_015225.3(PRUNE2):c.8209C>T (p.Pro2737Ser)	PRUNE2 (P2737S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220053	NM_015225.3(PRUNE2):c.8176C>G (p.Leu2726Val)	PRUNE2 (L2726V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 772912	NM_015225.3(PRUNE2):c.8127G>C (p.Pro2709=)	PRUNE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2409847	NM_015225.3(PRUNE2):c.8126C>T (p.Pro2709Leu)	PRUNE2 (P2709L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220051	NM_015225.3(PRUNE2):c.8068G>A (p.Glu2690Lys)	PRUNE2 (E2690K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529400	NM_015225.3(PRUNE2):c.8006G>C (p.Gly2669Ala)	PRUNE2 (G2669A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538299	NM_015225.3(PRUNE2):c.7963T>G (p.Trp2655Gly)	PRUNE2 (W2655G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220050	NM_015225.3(PRUNE2):c.7948G>T (p.Asp2650Tyr)	PRUNE2 (D2650Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220049	NM_015225.3(PRUNE2):c.7940A>T (p.Asp2647Val)	PRUNE2 (D2647V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273019	NM_015225.3(PRUNE2):c.7859C>T (p.Thr2620Met)	PRUNE2 (T2620M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659260	NM_015225.3(PRUNE2):c.7854C>T (p.Ser2618=)	PRUNE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 776425	NM_015225.3(PRUNE2):c.7734T>C (p.Tyr2578=)	PRUNE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2528697	NM_015225.3(PRUNE2):c.7687C>T (p.Pro2563Ser)	PRUNE2 (P2563S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489739	NM_015225.3(PRUNE2):c.7674T>G (p.Asn2558Lys)	PRUNE2 (N2558K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708874	NM_015225.3(PRUNE2):c.7663C>A (p.Arg2555Ser)	PRUNE2 (R2555S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2363152	NM_015225.3(PRUNE2):c.7655T>G (p.Leu2552Arg)	PRUNE2 (L2552R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558625	NM_015225.3(PRUNE2):c.7552A>G (p.Thr2518Ala)	PRUNE2 (T2518A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220047	NM_015225.3(PRUNE2):c.7447G>T (p.Val2483Phe)	PRUNE2 (V2483F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708875	NM_015225.3(PRUNE2):c.7410G>A (p.Pro2470=)	PRUNE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3220046	NM_015225.3(PRUNE2):c.7310G>A (p.Arg2437Gln)	PRUNE2 (R2437Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2251290	NM_015225.3(PRUNE2):c.7274G>T (p.Arg2425Ile)	PRUNE2 (R2425I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220045	NM_015225.3(PRUNE2):c.7151C>G (p.Ser2384Cys)	PRUNE2 (S2384C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407122	NM_015225.3(PRUNE2):c.7139T>C (p.Leu2380Ser)	PRUNE2 (L2380S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617127	NM_015225.3(PRUNE2):c.7126G>A (p.Gly2376Ser)	PRUNE2 (G2376S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295670	NM_015225.3(PRUNE2):c.7083C>G (p.Ile2361Met)	PRUNE2 (I2361M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250833	NM_015225.3(PRUNE2):c.7058A>T (p.Glu2353Val)	PRUNE2 (E2353V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410484	NM_015225.3(PRUNE2):c.7040C>T (p.Ala2347Val)	PRUNE2 (A2347V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342357	NM_015225.3(PRUNE2):c.7031C>T (p.Ser2344Leu)	PRUNE2 (S2344L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538707	NM_015225.3(PRUNE2):c.7007A>G (p.Asp2336Gly)	PRUNE2 (D2336G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549991	NM_015225.3(PRUNE2):c.7002T>G (p.Asp2334Glu)	PRUNE2 (D2334E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308299	NM_015225.3(PRUNE2):c.6986C>T (p.Pro2329Leu)	PRUNE2 (P2329L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247384	NM_015225.3(PRUNE2):c.6986C>G (p.Pro2329Arg)	PRUNE2 (P2329R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479741	NM_015225.3(PRUNE2):c.6914A>G (p.Asp2305Gly)	PRUNE2 (D2305G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376149	NM_015225.3(PRUNE2):c.6913G>A (p.Asp2305Asn)	PRUNE2 (D2305N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254091	NM_015225.3(PRUNE2):c.6905G>A (p.Ser2302Asn)	PRUNE2 (S2302N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602178	NM_015225.3(PRUNE2):c.6898G>A (p.Asp2300Asn)	PRUNE2 (D2300N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220044	NM_015225.3(PRUNE2):c.6867C>A (p.Asp2289Glu)	PRUNE2 (D2289E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215541	NM_015225.3(PRUNE2):c.6815A>G (p.His2272Arg)	PRUNE2 (H2272R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311312	NM_015225.3(PRUNE2):c.6797T>C (p.Leu2266Ser)	PRUNE2 (L2266S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220043	NM_015225.3(PRUNE2):c.6784G>A (p.Gly2262Ser)	PRUNE2 (G2262S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768306	NM_015225.3(PRUNE2):c.6751A>C (p.Ile2251Leu)	PRUNE2 (I2251L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2269932	NM_015225.3(PRUNE2):c.6722A>C (p.Glu2241Ala)	PRUNE2 (E2241A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220042	NM_015225.3(PRUNE2):c.6658C>T (p.Pro2220Ser)	PRUNE2 (P2220S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339901	NM_015225.3(PRUNE2):c.6628G>A (p.Ala2210Thr)	PRUNE2 (A2210T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2596977	NM_015225.3(PRUNE2):c.6626G>C (p.Gly2209Ala)	PRUNE2 (G2209A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385207	NM_015225.3(PRUNE2):c.6617C>T (p.Ser2206Leu)	PRUNE2 (S2206L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220040	NM_015225.3(PRUNE2):c.6529A>G (p.Ile2177Val)	PRUNE2 (I2177V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256177	NM_015225.3(PRUNE2):c.6497C>G (p.Thr2166Ser)	PRUNE2 (T2166S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326219	NM_015225.3(PRUNE2):c.6478C>T (p.Leu2160Phe)	PRUNE2 (L2160F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596075	NM_015225.3(PRUNE2):c.6455A>T (p.Glu2152Val)	PRUNE2 (E2152V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302467	NM_015225.3(PRUNE2):c.6446C>T (p.Pro2149Leu)	PRUNE2 (P2149L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338119	NM_015225.3(PRUNE2):c.6434C>G (p.Pro2145Arg)	PRUNE2 (P2145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220039	NM_015225.3(PRUNE2):c.6422T>C (p.Ile2141Thr)	PRUNE2 (I2141T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259405	NM_015225.3(PRUNE2):c.6326A>G (p.His2109Arg)	PRUNE2 (H2109R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247711	NM_015225.3(PRUNE2):c.6289A>T (p.Ser2097Cys)	PRUNE2 (S2097C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220037	NM_015225.3(PRUNE2):c.6287A>G (p.Asp2096Gly)	PRUNE2 (D2096G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227952	NM_015225.3(PRUNE2):c.6272C>T (p.Thr2091Met)	PRUNE2 (T2091M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718914	NM_015225.3(PRUNE2):c.6199G>A (p.Ala2067Thr)	PRUNE2 (A2067T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3220036	NM_015225.3(PRUNE2):c.6171T>A (p.Phe2057Leu)	PRUNE2 (F2057L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339575	NM_015225.3(PRUNE2):c.6164G>A (p.Gly2055Asp)	PRUNE2 (G2055D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256433	NM_015225.3(PRUNE2):c.6164G>T (p.Gly2055Val)	PRUNE2 (G2055V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731448	NM_015225.3(PRUNE2):c.6093A>G (p.Pro2031=)	PRUNE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2335461	NM_015225.3(PRUNE2):c.6026C>G (p.Thr2009Arg)	PRUNE2 (T2009R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220035	NM_015225.3(PRUNE2):c.6019G>A (p.Glu2007Lys)	PRUNE2 (E2007K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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