AMN1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 3116095	NM_001113402.2(AMN1):c.653A>C (p.Tyr218Ser)	AMN1 (Y200S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554937	NM_001113402.2(AMN1):c.650C>T (p.Thr217Ile)	AMN1 (T217I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224360	NM_001113402.2(AMN1):c.646C>T (p.Leu216Phe)	AMN1 (L171F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116086	NM_001113402.2(AMN1):c.617A>G (p.Asn206Ser)	AMN1 (N188S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293074	NM_001113402.2(AMN1):c.613G>A (p.Val205Ile)	AMN1 (V187I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550623	NM_001113402.2(AMN1):c.601A>G (p.Met201Val)	AMN1 (M156V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293085	NM_001113402.2(AMN1):c.571C>A (p.Pro191Thr)	AMN1 (P191T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116081	NM_001113402.2(AMN1):c.457A>C (p.Ser153Arg)	AMN1 (S153R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116076	NM_001113402.2(AMN1):c.433A>G (p.Ile145Val)	AMN1 (I145V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642831	NM_001113402.2(AMN1):c.336A>C (p.Ser112=)	AMN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3116072	NM_001113402.2(AMN1):c.325G>T (p.Ala109Ser)	AMN1 (A109S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529414	NM_001113402.2(AMN1):c.236T>A (p.Leu79Gln)	AMN1 (L61Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475556	NM_001113402.2(AMN1):c.32T>G (p.Leu11Arg)	AMN1, LOC130007643 (L11R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3116101	NM_001113402.2(AMN1):c.7C>T (p.Arg3Cys)	AMN1, LOC130007643 (R3C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 688587	GRCh37/hg19 12p11.21(chr12:31453473-33040145)x3	AMN1, BICD1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 686059	GRCh37/hg19 12p11.21(chr12:31878975-32012737)x3	AMN1, H3-5	Copy number gain	not provided	GUncertain significance
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 443854	GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3	ALG10, AMN1 +17 more	Copy number gain	See cases	GLikely pathogenic
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 44