ClinVar for Gene (Select 149281) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301275	NM_001136107.2(NTMT2):c.826G>C (p.Ala276Pro)	NTMT2 (A276P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301274	NM_001136107.2(NTMT2):c.166G>A (p.Ala56Thr)	NTMT2 (A56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202576	NM_001136107.2(NTMT2):c.797C>T (p.Pro266Leu)	NTMT2 (P266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202575	NM_001136107.2(NTMT2):c.736C>T (p.Arg246Trp)	NTMT2 (R246W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202574	NM_001136107.2(NTMT2):c.677G>A (p.Arg226Gln)	NTMT2 (R226Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202573	NM_001136107.2(NTMT2):c.671T>A (p.Val224Glu)	NTMT2 (V224E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202572	NM_001136107.2(NTMT2):c.54C>G (p.Asp18Glu)	NTMT2 (D18E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202571	NM_001136107.2(NTMT2):c.538C>T (p.Pro180Ser)	NTMT2 (P180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202570	NM_001136107.2(NTMT2):c.52G>C (p.Asp18His)	NTMT2 (D18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202569	NM_001136107.2(NTMT2):c.37C>T (p.Arg13Cys)	NTMT2 (R13C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202568	NM_001136107.2(NTMT2):c.371G>A (p.Gly124Asp)	NTMT2 (G124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202567	NM_001136107.2(NTMT2):c.344C>T (p.Ala115Val)	NTMT2 (A115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202566	NM_001136107.2(NTMT2):c.272T>C (p.Ile91Thr)	NTMT2 (I91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202565	NM_001136107.2(NTMT2):c.212G>C (p.Arg71Thr)	NTMT2 (R71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202564	NM_001136107.2(NTMT2):c.161T>G (p.Leu54Trp)	NTMT2 (L54W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202563	NM_001136107.2(NTMT2):c.104G>A (p.Arg35His)	NTMT2 (R35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2610579	NM_001136107.2(NTMT2):c.11G>A (p.Arg4Gln)	NTMT2 (R4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602546	NM_001136107.2(NTMT2):c.323T>C (p.Phe108Ser)	NTMT2 (F108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592523	NM_001136107.2(NTMT2):c.482T>A (p.Val161Asp)	NTMT2 (V161D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495897	NM_001136107.2(NTMT2):c.608C>T (p.Ala203Val)	NTMT2 (A203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478268	NM_001136107.2(NTMT2):c.583C>G (p.His195Asp)	NTMT2 (H195D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469275	NM_001136107.2(NTMT2):c.826G>A (p.Ala276Thr)	NTMT2 (A276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456726	NM_001136107.2(NTMT2):c.814G>A (p.Val272Met)	NTMT2 (V272M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1457087	NC_000001.10:g.(?_169660781)_(170521603_?)del	FIRRM, GORAB +6 more	Deletion	not provided	GPathogenic
Select item 1340669	GRCh37/hg19 1q24.2(chr1:170057514-170223438)x1	NTMT2	Copy number loss	not provided	GLikely benign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 689666	NM_001136107.2(NTMT2):c.13G>C (p.Gly5Arg)	NTMT2 (G5R)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 48