AMZ2[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 149337	GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1	AMZ2, ARSG +62 more	Copy number loss	See cases	GPathogenic
Select item 59609	GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1	ABCA10, ABCA5 +85 more	Copy number loss	See cases	GPathogenic
Select item 2593283	NM_016627.5(AMZ2):c.18C>G (p.His6Gln)	AMZ2 (H6Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2314701	NM_016627.5(AMZ2):c.22G>A (p.Glu8Lys)	AMZ2 (E8K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2228516	NM_016627.5(AMZ2):c.29C>A (p.Thr10Lys)	AMZ2 (T10K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3293683	NM_016627.5(AMZ2):c.38C>T (p.Thr13Ile)	AMZ2 (T13I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3117500	NM_016627.5(AMZ2):c.55A>G (p.Asn19Asp)	AMZ2 (N19D)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3293713	NM_016627.5(AMZ2):c.86T>C (p.Leu29Ser)	AMZ2 (L29S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3059188	NM_016627.5(AMZ2):c.88A>G (p.Asn30Asp)	AMZ2 (N30D)	Single nucleotide variant (missense variant +3 more)	AMZ2-related disorder	GBenign
Select item 2253623	NM_016627.5(AMZ2):c.95G>A (p.Gly32Glu)	AMZ2 (G32E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3117483	NM_016627.5(AMZ2):c.104G>A (p.Arg35His)	AMZ2 (R35H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2222832	NM_016627.5(AMZ2):c.116A>G (p.Glu39Gly)	AMZ2 (E39G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117486	NM_016627.5(AMZ2):c.122T>C (p.Phe41Ser)	AMZ2 (F41S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117488	NM_016627.5(AMZ2):c.163T>C (p.Ser55Pro)	AMZ2 (S55P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2218919	NM_016627.5(AMZ2):c.259C>T (p.Arg87Cys)	AMZ2 (R31C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3293680	NM_016627.5(AMZ2):c.262A>G (p.Ser88Gly)	AMZ2 (S88G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117496	NM_016627.5(AMZ2):c.310A>G (p.Ser104Gly)	AMZ2 (S48G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2648149	NM_016627.5(AMZ2):c.336G>A (p.Thr112=)	AMZ2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3046922	NM_016627.5(AMZ2):c.459G>A (p.Gly153=)	AMZ2	Single nucleotide variant (synonymous variant +1 more)	AMZ2-related disorder	GLikely benign
Select item 3293692	NM_016627.5(AMZ2):c.511G>T (p.Val171Leu)	AMZ2 (V115L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538593	NM_016627.5(AMZ2):c.511G>A (p.Val171Met)	AMZ2 (V113M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 222960	NM_016627.5(AMZ2):c.521C>A (p.Thr174Lys)	AMZ2 (T174K +3 more)	Single nucleotide variant (missense variant +1 more)	Monoclonal B-Cell Lymphocytosis	GUncertain significance
Select item 3051087	NM_016627.5(AMZ2):c.586+8G>A	AMZ2	Single nucleotide variant (non-coding transcript variant +1 more)	AMZ2-related disorder	GLikely benign
Select item 3056812	NM_016627.5(AMZ2):c.594G>T (p.Gly198=)	AMZ2	Single nucleotide variant (synonymous variant +1 more)	AMZ2-related disorder	GBenign
Select item 2485279	NM_016627.5(AMZ2):c.707A>T (p.Tyr236Phe)	AMZ2 (Y178F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041066	NM_016627.5(AMZ2):c.768C>T (p.Ile256=)	AMZ2	Single nucleotide variant (synonymous variant +1 more)	AMZ2-related disorder	GLikely benign
Select item 2366840	NM_016627.5(AMZ2):c.806C>T (p.Ala269Val)	AMZ2 (A211V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117506	NM_016627.5(AMZ2):c.911T>C (p.Ile304Thr)	AMZ2 (I270T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2553522	NM_016627.5(AMZ2):c.917A>G (p.Glu306Gly)	AMZ2 (E248G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774931	NM_016627.5(AMZ2):c.937_941del (p.Arg313fs)	AMZ2 (R279fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2278718	NM_016627.5(AMZ2):c.950A>G (p.Asp317Gly)	AMZ2 (D259G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039332	NM_016627.5(AMZ2):c.992A>G (p.His331Arg)	AMZ2 (H273R +3 more)	Single nucleotide variant (missense variant +1 more)	AMZ2-related disorder	GBenign
Select item 3293702	NM_016627.5(AMZ2):c.1038A>T (p.Glu346Asp)	AMZ2 (E288D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233698	NM_016627.5(AMZ2):c.1047G>T (p.Glu349Asp)	AMZ2 (E315D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060666	NM_016627.5(AMZ2):c.1068T>A (p.Ala356=)	AMZ2	Single nucleotide variant (synonymous variant +1 more)	AMZ2-related disorder	GBenign
Select item 2534850	NM_016627.5(AMZ2):c.1072C>T (p.Leu358Phe)	AMZ2 (L358F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809505	GRCh37/hg19 17q24.2(chr17:66075889-66268460)x1	AMZ2, ARSG +1 more	Copy number loss	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 393910	GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3	ABCA10, ABCA5 +18 more	Copy number gain	See cases	GUncertain significance

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Items: 47