ClinVar for Gene (Select 441024) - ClinVar

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

Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296644	NM_001144978.3(MTHFD2L):c.930A>C (p.Glu310Asp)	LOC105377276, MTHFD2L (E252D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296643	NM_001144978.3(MTHFD2L):c.41G>A (p.Arg14His)	MTHFD2L (R14H)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3296641	NM_001144978.3(MTHFD2L):c.814A>G (p.Lys272Glu)	LOC105377276, MTHFD2L (K272E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296640	NM_001144978.3(MTHFD2L):c.238A>G (p.Arg80Gly)	MTHFD2L (R80G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3296639	NM_001144978.3(MTHFD2L):c.11C>T (p.Pro4Leu)	MTHFD2L (P4L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3215315	NM_001144978.3(MTHFD2L):c.594A>G (p.Ile198Met)	MTHFD2L (I71M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215312	NM_001144978.3(MTHFD2L):c.550C>T (p.His184Tyr)	MTHFD2L (H126Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215305	NM_001144978.3(MTHFD2L):c.478A>C (p.Asn160His)	MTHFD2L (N160H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215302	NM_001144978.3(MTHFD2L):c.418G>A (p.Val140Ile)	MTHFD2L (V140I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215286	NM_001144978.3(MTHFD2L):c.167G>T (p.Gly56Val)	MTHFD2L (G56V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3215281	NM_001144978.3(MTHFD2L):c.163T>C (p.Ser55Pro)	MTHFD2L (S55P)	Single nucleotide variant (5 prime UTR variant +2 more)	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 2685116	GRCh37/hg19 4q13.3-21.1(chr4:74958697-76341496)x1	AREG, BTC +5 more	Copy number loss	not provided	GUncertain significance
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2607304	NM_001144978.3(MTHFD2L):c.662T>C (p.Met221Thr)	MTHFD2L (M221T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589622	NM_001144978.3(MTHFD2L):c.112G>C (p.Ala38Pro)	MTHFD2L (A38P)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2560450	NM_001144978.3(MTHFD2L):c.524A>G (p.Asn175Ser)	MTHFD2L (N175S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555743	NM_001144978.3(MTHFD2L):c.605G>T (p.Gly202Val)	MTHFD2L (G144V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549944	NM_001144978.3(MTHFD2L):c.427A>T (p.Ile143Leu)	MTHFD2L (I85L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524489	NM_001144978.3(MTHFD2L):c.116T>A (p.Phe39Tyr)	MTHFD2L (F39Y)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2518039	NM_001144978.3(MTHFD2L):c.751A>G (p.Lys251Glu)	MTHFD2L (K124E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486945	NM_001144978.3(MTHFD2L):c.346A>G (p.Ile116Val)	MTHFD2L (I116V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383283	NM_001144978.3(MTHFD2L):c.629T>G (p.Val210Gly)	MTHFD2L (V83G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369548	NM_001144978.3(MTHFD2L):c.325G>A (p.Val109Ile)	MTHFD2L (V109I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361359	NM_001144978.3(MTHFD2L):c.121G>A (p.Gly41Ser)	MTHFD2L (G41S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2340586	NM_001144978.3(MTHFD2L):c.631G>A (p.Val211Ile)	MTHFD2L (V211I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286298	NM_001144978.3(MTHFD2L):c.122G>C (p.Gly41Ala)	MTHFD2L (G41A)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2269995	NM_001144978.3(MTHFD2L):c.676C>G (p.Leu226Val)	MTHFD2L (L168V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252363	NM_001144978.3(MTHFD2L):c.404A>T (p.Asn135Ile)	MTHFD2L (N135I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241156	NM_001144978.3(MTHFD2L):c.610C>G (p.Gln204Glu)	MTHFD2L (Q77E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2232154	NM_001144978.3(MTHFD2L):c.689A>C (p.Asp230Ala)	MTHFD2L (D103A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	LINC01088, LINC01094 +330 more	Deletion	See cases	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 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	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 980094	GRCh37/hg19 4q13.3(chr4:75013465-75135837)x1	MTHFD2L	Copy number loss	not provided	GLikely benign
Select item 814570	GRCh37/hg19 4q13.3(chr4:75067426-75980925)x3	AREG, EPGN +4 more	Copy number gain	not provided	GUncertain significance
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 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685428	GRCh37/hg19 4q13.3(chr4:74935971-75589619)x3	AREG, CXCL2 +3 more	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 684518	NM_001144978.3(MTHFD2L):c.482G>A (p.Gly161Glu)	MTHFD2L (G34E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 562932	GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1	CDKL2, AREG +25 more	Copy number loss	not provided	GUncertain significance
Select item 562931	GRCh37/hg19 4q13.3(chr4:73952783-75261407)x3	CXCL1, EPGN +15 more	Copy number gain	not provided	GUncertain significance
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	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 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 151069	GRCh38/hg38 4q13.3(chr4:74173208-74240861)x1	LOC112978671, LOC129992675 +1 more	Copy number loss	See cases	GUncertain significance
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 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 147880	GRCh38/hg38 4q13.3(chr4:74097483-75266770)x1	AREG, BTC +29 more	Copy number loss	See cases	GUncertain significance
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 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 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: 58