6075[HGNC] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 59481	GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1	FREM3, GAB1 +44 more	Copy number loss	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 145535	GRCh38/hg38 4q31.21(chr4:141594536-142581835)x3	IL15, INPP4B +3 more	Copy number gain	See cases	GLikely benign
Select item 2558201	NM_001101669.3(INPP4B):c.2753C>A (p.Thr918Asn)	INPP4B (T665N +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2292012	NM_001101669.3(INPP4B):c.2741C>A (p.Pro914His)	INPP4B (P696H +10 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2621058	NM_001101669.3(INPP4B):c.2706G>T (p.Met902Ile)	INPP4B (M684I +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225123	NM_001101669.3(INPP4B):c.2687G>A (p.Arg896Lys)	INPP4B (R905K +10 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2409478	NM_001101669.3(INPP4B):c.2609A>C (p.Asp870Ala)	INPP4B (D741A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546960	NM_001101669.3(INPP4B):c.2536A>G (p.Lys846Glu)	INPP4B (K593E +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281071	NM_001101669.3(INPP4B):c.2396A>G (p.Gln799Arg)	INPP4B (Q396R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214697	NM_001101669.3(INPP4B):c.2392G>A (p.Glu798Lys)	INPP4B (E395K +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250273	NM_001101669.3(INPP4B):c.2383C>T (p.His795Tyr)	INPP4B (H551Y +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109798	NM_001101669.3(INPP4B):c.2074G>A (p.Val692Ile)	INPP4B (V557I +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623346	NM_001101669.3(INPP4B):c.2062G>A (p.Asp688Asn)	INPP4B (D435N +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205898	NM_001101669.3(INPP4B):c.2050G>A (p.Val684Ile)	INPP4B (V508I +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109797	NM_001101669.3(INPP4B):c.2034G>A (p.Met678Ile)	INPP4B (M549I +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392168	NM_001101669.3(INPP4B):c.2020G>A (p.Asp674Asn)	INPP4B (D539N +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3286081	NM_001101669.3(INPP4B):c.1969C>T (p.His657Tyr)	INPP4B (H409Y +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109796	NM_001101669.3(INPP4B):c.1949C>T (p.Pro650Leu)	INPP4B (P402L +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455482	NM_001101669.3(INPP4B):c.1862C>T (p.Thr621Met)	INPP4B (T368M +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311902	NM_001101669.3(INPP4B):c.1721A>T (p.Glu574Val)	INPP4B (E439V +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109795	NM_001101669.3(INPP4B):c.1708T>A (p.Ser570Thr)	INPP4B (S385T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109794	NM_001101669.3(INPP4B):c.1576G>A (p.Ala526Thr)	INPP4B (A278T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109793	NM_001101669.3(INPP4B):c.1569G>C (p.Arg523Ser)	INPP4B (R275S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325531	NM_001101669.3(INPP4B):c.1541C>T (p.Ser514Leu)	INPP4B (S266L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558902	NM_001101669.3(INPP4B):c.1516G>C (p.Gly506Arg)	INPP4B (G258R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2276509	NM_001101669.3(INPP4B):c.1495G>A (p.Asp499Asn)	INPP4B (D251N +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527147	NM_001101669.3(INPP4B):c.1480G>A (p.Glu494Lys)	INPP4B (E309K +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109792	NM_001101669.3(INPP4B):c.1389T>A (p.Asp463Glu)	INPP4B (D215E +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383130	NM_001101669.3(INPP4B):c.1333A>C (p.Asn445His)	INPP4B (N260H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299754	NM_001101669.3(INPP4B):c.1330A>C (p.Lys444Gln)	INPP4B (K196Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109791	NM_001101669.3(INPP4B):c.1202A>C (p.Tyr401Ser)	INPP4B (Y225S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534959	NM_001101669.3(INPP4B):c.968G>T (p.Gly323Val)	INPP4B (G138V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358948	NM_001101669.3(INPP4B):c.940A>G (p.Ile314Val)	INPP4B (I129V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109801	NM_001101669.3(INPP4B):c.763A>T (p.Met255Leu)	INPP4B (M126L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532428	NM_001101669.3(INPP4B):c.755G>A (p.Arg252Gln)	INPP4B (R67Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286079	NM_001101669.3(INPP4B):c.704T>C (p.Val235Ala)	INPP4B (V235A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2252941	NM_001101669.3(INPP4B):c.697A>G (p.Asn233Asp)	INPP4B (N233D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237630	NM_001101669.3(INPP4B):c.689T>C (p.Val230Ala)	INPP4B (V101A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487014	NM_001101669.3(INPP4B):c.658G>A (p.Gly220Arg)	INPP4B (G220R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3286080	NM_001101669.3(INPP4B):c.602T>C (p.Val201Ala)	INPP4B (V16A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359839	NM_001101669.3(INPP4B):c.550G>A (p.Val184Met)	INPP4B (V55M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109800	NM_001101669.3(INPP4B):c.512A>T (p.Asp171Val)	INPP4B (D171V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235135	NM_001101669.3(INPP4B):c.341T>C (p.Val114Ala)	INPP4B (V114A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602646	NM_001101669.3(INPP4B):c.218A>C (p.Gln73Pro)	INPP4B (Q73P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527125	GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930)	CLGN, ELF2 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 980141	GRCh37/hg19 4q31.21(chr4:143113600-144098686)x3	INPP4B	Copy number gain	not provided	GLikely benign
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 687333	GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1	ABCE1, ANAPC10 +21 more	Copy number loss	not provided	GUncertain significance
Select item 562971	GRCh37/hg19 4q31.21(chr4:141663149-143163452)x1	INPP4B, TBC1D9 +3 more	Copy number loss	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 394191	GRCh37/hg19 4q31.21(chr4:143733281-144002697)x3	INPP4B	Copy number gain	See cases	GLikely benign
Select item 394067	GRCh37/hg19 4q31.21(chr4:143086405-143195842)x3	INPP4B	Copy number gain	See cases	GBenign
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic
Select item 524175	t(4;16)(q31;q13)dn	INPP4B	Translocation	not specified	GUncertain significance

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Items: 77