ClinVar for Gene (Select 51023) - ClinVar

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

Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296086	NM_016067.4(MRPS18C):c.88G>C (p.Gly30Arg)	MRPS18C (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208915	NM_016067.4(MRPS18C):c.44A>G (p.Lys15Arg)	MRPS18C (K15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	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 2685974	GRCh37/hg19 4q21.22-21.23(chr4:84048378-84973081)x3	ABRAXAS1, COQ2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2526370	NM_016067.4(MRPS18C):c.70G>C (p.Val24Leu)	MRPS18C (V24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426212	NC_000004.11:g.(?_84185352)_(84406225_?)del	ABRAXAS1, COQ2 +3 more	Deletion	not provided	GPathogenic
Select item 2391445	NM_016067.4(MRPS18C):c.250G>A (p.Val84Ile)	ABRAXAS1, MRPS18C (V84I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2344773	NM_016067.4(MRPS18C):c.94C>T (p.His32Tyr)	MRPS18C (H32Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338297	NM_016067.4(MRPS18C):c.416G>C (p.Arg139Thr)	ABRAXAS1, MRPS18C (R111T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321699	NM_016067.4(MRPS18C):c.350T>C (p.Met117Thr)	ABRAXAS1, MRPS18C (M117T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307521	NM_016067.4(MRPS18C):c.10G>T (p.Val4Leu)	LOC112997542, MRPS18C (V4L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2305937	NM_016067.4(MRPS18C):c.417A>T (p.Arg139Ser)	ABRAXAS1, MRPS18C (R139S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300115	NM_016067.4(MRPS18C):c.53A>C (p.His18Pro)	MRPS18C (H18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250704	NM_016067.4(MRPS18C):c.376G>A (p.Asp126Asn)	ABRAXAS1, MRPS18C (D98N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808342	GRCh37/hg19 4q21.23(chr4:84142481-84840424)x3	ABRAXAS1, COQ2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1708193	GRCh37/hg19 4q21.22-21.23(chr4:84048377-84744105)x1	HPSE, MRPS18C +4 more	Copy number loss	See cases	GPathogenic
Select item 1527107	GRCh37/hg19 4q21.23(chr4:84317758-85090749)	ABRAXAS1, GPAT3 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527106	GRCh37/hg19 4q21.23(chr4:84134525-84984297)	ABRAXAS1, COQ2 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 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 1272768	NM_139076.3(ABRAXAS1):c.*249del	ABRAXAS1, MRPS18C	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 929364	GRCh37/hg19 4q21.22-21.23(chr4:84053945-85081980)x3	ABRAXAS1, COQ2 +4 more	Copy number gain	See cases	GUncertain significance
Select item 830313	Single allele	CDS1, COPS4 +16 more	Deletion	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 814576	GRCh37/hg19 4q21.22-21.23(chr4:82593140-85651685)x1	ENOPH1, MRPS18C +17 more	Copy number loss	not provided	GPathogenic
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 686225	GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1	ABRAXAS1, ANTXR2 +29 more	Copy number loss	not provided	GPathogenic
Select item 686006	GRCh37/hg19 4q21.23(chr4:84294408-84427489)x1	ABRAXAS1, HELQ +1 more	Copy number loss	not provided	GUncertain significance
Select item 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 625784	GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)	ABRAXAS1, AFF1 +28 more	Copy number loss	not provided	GPathogenic
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 442552	GRCh37/hg19 4q21.22-21.23(chr4:83954528-85807754)x1	ABRAXAS1, CDS1 +9 more	Copy number loss	See cases	GUncertain significance
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 394976	GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	ABCG2, ABRAXAS1 +47 more	Copy number loss	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 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 155254	GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1	ABRAXAS1, COPS4 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 148797	GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	ABRAXAS1, BMP3 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	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: 52