24839[HGNC] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 155550	GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3	LOC129993250, LOC129993251 +115 more	Copy number gain	See cases	GLikely pathogenic
Select item 150934	GRCh38/hg38 4q31.3(chr4:152519348-153381536)x1	ARFIP1, FBXW7 +39 more	Copy number loss	See cases	GUncertain significance
Select item 717843	NM_032117.4(MND1):c.4-5T>G	MND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3182378	NM_032117.4(MND1):c.76G>A (p.Val26Ile)	MND1 (V26I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182409	NM_032117.4(MND1):c.91G>T (p.Asp31Tyr)	MND1 (D31Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182029	NM_032117.4(MND1):c.133A>G (p.Met45Val)	MND1 (M45V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234050	NM_032117.4(MND1):c.179T>C (p.Val60Ala)	MND1 (V60A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249931	NM_032117.4(MND1):c.229A>G (p.Lys77Glu)	MND1 (K77E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182114	NM_032117.4(MND1):c.238C>T (p.His80Tyr)	MND1 (H80Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295418	NM_032117.4(MND1):c.251A>G (p.His84Arg)	MND1 (H84R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3295419	NM_032117.4(MND1):c.275A>G (p.Gln92Arg)	MND1 (Q92R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182150	NM_032117.4(MND1):c.320T>C (p.Ile107Thr)	MND1 (I107T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182182	NM_032117.4(MND1):c.341G>T (p.Arg114Leu)	MND1 (R114L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563265	NM_032117.4(MND1):c.350C>T (p.Thr117Met)	MND1 (T117M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532065	NM_032117.4(MND1):c.392G>A (p.Arg131Gln)	MND1 (R131Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3182284	NM_032117.4(MND1):c.414G>C (p.Lys138Asn)	MND1 (K138N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522056	NM_032117.4(MND1):c.507G>C (p.Trp169Cys)	MND1 (W169C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 719411	NM_032117.4(MND1):c.573T>C (p.Ile191=)	MND1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2523457	NM_032117.4(MND1):c.613G>A (p.Asp205Asn)	MND1 (D205N)	Single nucleotide variant (3 prime UTR 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 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 980699	GRCh37/hg19 4q31.3(chr4:154306552-154914180)x3	TLR2, MND1 +3 more	Copy number gain	not provided	GLikely benign
Select item 814616	GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1	PLRG1, CTSO +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 812128	GRCh37/hg19 4q31.3(chr4:154316483-154325120)	MND1	Copy number loss	Premature ovarian failure	GLikely pathogenic
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 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 684516	Single allele	DCHS2, MND1 +5 more	Duplication	not provided	Gnot provided
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 442937	GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1	ARFIP1, ASIC5 +36 more	Copy number loss	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 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 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: 48