HHIP[gene] - ClinVar

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Items: 68

	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 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 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 147586	GRCh38/hg38 4q31.21(chr4:143738209-145870474)x1	ABCE1, ANAPC10 +42 more	Copy number loss	See cases	GPathogenic
Select item 144497	GRCh38/hg38 4q31.21(chr4:144112130-144651801)x1	GYPA, HHIP +6 more	Copy number loss	See cases	GUncertain significance
Select item 870129	NC_000004.12:g.144539078A>G	HHIP	Single nucleotide variant	Chronic obstructive pulmonary disease, biomass related +1 more	Gassociation
Select item 870131	NC_000004.12:g.144559628A>G	HHIP	Single nucleotide variant	Chronic obstructive pulmonary disease, biomass related +1 more	Gassociation
Select item 870130	NC_000004.12:g.144565237A>G	HHIP	Single nucleotide variant	Chronic obstructive pulmonary disease, biomass related +1 more	Gassociation
Select item 2279695	NM_022475.3(HHIP):c.139C>G (p.Arg47Gly)	HHIP (R47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533360	NM_022475.3(HHIP):c.157A>T (p.Arg53Trp)	HHIP (R53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105703	NM_022475.3(HHIP):c.176T>C (p.Leu59Pro)	HHIP (L59P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379745	NM_022475.3(HHIP):c.365T>G (p.Leu122Arg)	HHIP (L122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291178	NM_022475.3(HHIP):c.395A>G (p.Glu132Gly)	HHIP (E132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284229	NM_022475.3(HHIP):c.428A>C (p.Asp143Ala)	HHIP (D143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225171	NM_022475.3(HHIP):c.467T>C (p.Ile156Thr)	HHIP (I156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350792	NM_022475.3(HHIP):c.473-55G>A	HHIP	Single nucleotide variant (intron variant)	HHIP-related condition	GLikely benign
Select item 2488458	NM_022475.3(HHIP):c.473G>T (p.Gly158Val)	HHIP (G158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380527	NM_022475.3(HHIP):c.484A>G (p.Thr162Ala)	HHIP (T162A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105706	NM_022475.3(HHIP):c.590A>G (p.Asp197Gly)	HHIP (D197G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385480	NM_022475.3(HHIP):c.688G>A (p.Val230Ile)	HHIP (V230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767978	NM_022475.3(HHIP):c.707G>A (p.Gly236Glu)	HHIP (G236E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3105707	NM_022475.3(HHIP):c.722G>A (p.Arg241His)	HHIP (R241H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339675	NM_022475.3(HHIP):c.764C>T (p.Thr255Ile)	HHIP (T255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248578	NM_022475.3(HHIP):c.764C>A (p.Thr255Asn)	HHIP (T255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591701	NM_022475.3(HHIP):c.767C>A (p.Pro256His)	HHIP (P256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154840	GRCh38/hg38 4q31.21(chr4:144701081-145042652)x3	ANAPC10, HHIP +1 more	Copy number gain	See cases	GLikely benign
Select item 2333007	NM_022475.3(HHIP):c.889G>A (p.Gly297Arg)	HHIP (G297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462534	NM_022475.3(HHIP):c.973A>G (p.Thr325Ala)	HHIP (T325A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105701	NM_022475.3(HHIP):c.1313A>C (p.Asp438Ala)	HHIP (D438A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398991	NM_022475.3(HHIP):c.1340A>G (p.Asn447Ser)	HHIP (N447S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722364	NM_022475.3(HHIP):c.1346C>T (p.Thr449Met)	HHIP (T449M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3105702	NM_022475.3(HHIP):c.1489T>C (p.Tyr497His)	HHIP (Y497H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229613	NM_022475.3(HHIP):c.1528G>A (p.Val510Met)	HHIP (V510M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767979	NM_022475.3(HHIP):c.1547+10C>G	HHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2546794	NM_022475.3(HHIP):c.1628G>A (p.Cys543Tyr)	HHIP (C543Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301655	NM_022475.3(HHIP):c.1763C>T (p.Pro588Leu)	HHIP (P588L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468887	NM_022475.3(HHIP):c.1790C>T (p.Thr597Met)	HHIP (T597M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284228	NM_022475.3(HHIP):c.1799C>G (p.Pro600Arg)	HHIP (P600R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527452	NM_022475.3(HHIP):c.1802C>A (p.Ala601Glu)	HHIP (A601E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393896	NM_022475.3(HHIP):c.1838G>A (p.Arg613Gln)	HHIP (R613Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390998	NM_022475.3(HHIP):c.1843G>A (p.Gly615Ser)	HHIP (G615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105704	NM_022475.3(HHIP):c.1882G>A (p.Gly628Ser)	HHIP (G628S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206570	NM_022475.3(HHIP):c.2020C>G (p.Arg674Gly)	HHIP (R674G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153878	GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1	ABCE1, ANAPC10 +111 more	Copy number loss	See cases	GLikely pathogenic
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 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	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 814613	GRCh37/hg19 4q31.21(chr4:145601590-146031966)x3	HHIP, ANAPC10 +1 more	Copy number gain	not provided	GUncertain significance
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 688727	GRCh37/hg19 4q31.21(chr4:144737063-145858335)x1	GYPA, GYPB +2 more	Copy number loss	not provided	GUncertain significance
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 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 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

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Items: 68