ClinVar for Gene (Select 64399) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350792	NM_022475.3(HHIP):c.473-55G>A	HHIP	Single nucleotide variant (intron variant)	HHIP-related condition	GLikely benign
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 3284228	NM_022475.3(HHIP):c.1799C>G (p.Pro600Arg)	HHIP (P600R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3105706	NM_022475.3(HHIP):c.590A>G (p.Asp197Gly)	HHIP (D197G)	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 3105703	NM_022475.3(HHIP):c.176T>C (p.Leu59Pro)	HHIP (L59P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3105701	NM_022475.3(HHIP):c.1313A>C (p.Asp438Ala)	HHIP (D438A)	Single nucleotide variant (missense variant)	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 2591701	NM_022475.3(HHIP):c.767C>A (p.Pro256His)	HHIP (P256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2533360	NM_022475.3(HHIP):c.157A>T (p.Arg53Trp)	HHIP (R53W)	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 2488458	NM_022475.3(HHIP):c.473G>T (p.Gly158Val)	HHIP (G158V)	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 2462534	NM_022475.3(HHIP):c.973A>G (p.Thr325Ala)	HHIP (T325A)	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 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 2385480	NM_022475.3(HHIP):c.688G>A (p.Val230Ile)	HHIP (V230I)	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 2379745	NM_022475.3(HHIP):c.365T>G (p.Leu122Arg)	HHIP (L122R)	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 2333007	NM_022475.3(HHIP):c.889G>A (p.Gly297Arg)	HHIP (G297R)	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 2291178	NM_022475.3(HHIP):c.395A>G (p.Glu132Gly)	HHIP (E132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2248578	NM_022475.3(HHIP):c.764C>A (p.Thr255Asn)	HHIP (T255N)	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 2225171	NM_022475.3(HHIP):c.467T>C (p.Ile156Thr)	HHIP (I156T)	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 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 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 870129	NC_000004.12:g.144539078A>G	HHIP	Single nucleotide variant	Chronic obstructive pulmonary disease, biomass related +1 more	Gassociation
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 767979	NM_022475.3(HHIP):c.1547+10C>G	HHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 767978	NM_022475.3(HHIP):c.707G>A (p.Gly236Glu)	HHIP (G236E)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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
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 154840	GRCh38/hg38 4q31.21(chr4:144701081-145042652)x3	ANAPC10, HHIP +1 more	Copy number gain	See cases	GLikely benign
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 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 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	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 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 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 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 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 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 68