14275[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	LOC129992745, LOC129992746 +330 more	Deletion	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 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	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 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 3206538	NM_020236.4(MRPL1):c.10G>A (p.Ala4Thr)	LOC129992725, MRPL1 (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147513	GRCh38/hg38 4q21.1-21.21(chr4:77864035-78516249)x3	FRAS1, LOC121725173 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2509130	NM_020236.4(MRPL1):c.40C>T (p.His14Tyr)	MRPL1 (H14Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295949	NM_020236.4(MRPL1):c.110G>A (p.Arg37Gln)	MRPL1 (R37Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300324	NM_020236.4(MRPL1):c.113T>C (p.Val38Ala)	MRPL1 (V38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355224	NM_020236.4(MRPL1):c.133G>C (p.Ala45Pro)	MRPL1 (A45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206550	NM_020236.4(MRPL1):c.204A>C (p.Glu68Asp)	MRPL1 (E68D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206552	NM_020236.4(MRPL1):c.214A>G (p.Ile72Val)	MRPL1 (I72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206556	NM_020236.4(MRPL1):c.308T>C (p.Val103Ala)	MRPL1 (V103A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327647	NM_020236.4(MRPL1):c.349C>A (p.Pro117Thr)	MRPL1 (P117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295950	NM_020236.4(MRPL1):c.457G>A (p.Glu153Lys)	MRPL1 (E153K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374407	NM_020236.4(MRPL1):c.509C>T (p.Ala170Val)	MRPL1 (A170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206573	NM_020236.4(MRPL1):c.626G>A (p.Arg209Gln)	MRPL1 (R209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206580	NM_020236.4(MRPL1):c.655C>G (p.Pro219Ala)	MRPL1 (P219A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224349	NM_020236.4(MRPL1):c.676A>G (p.Ile226Val)	MRPL1 (I226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206587	NM_020236.4(MRPL1):c.782A>G (p.Asp261Gly)	MRPL1 (D261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617620	NM_020236.4(MRPL1):c.856T>A (p.Leu286Met)	MRPL1 (L286M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206595	NM_020236.4(MRPL1):c.886C>T (p.Arg296Cys)	MRPL1 (R296C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297006	NM_020236.4(MRPL1):c.920T>G (p.Ile307Ser)	MRPL1 (I307S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527099	GRCh37/hg19 4q21.1-21.21(chr4:78671333-79679677)	ANXA3, CNOT6L +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	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 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814572	GRCh37/hg19 4q21.1-21.21(chr4:78780969-79455176)x3	FRAS1, MRPL1	Copy number gain	not provided	GLikely benign
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 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 687069	GRCh37/hg19 4q21.1-21.21(chr4:78748792-78975934)x3	MRPL1	Copy number gain	not provided	GUncertain significance
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 685937	GRCh37/hg19 4q21.1-21.21(chr4:78749041-78989716)x3	FRAS1, MRPL1	Copy number gain	not provided	GUncertain significance
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 685150	GRCh37/hg19 4q21.1-21.21(chr4:78748750-78975934)x3	MRPL1	Copy number gain	not provided	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 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 44