"GeneDx"[submitter] AND "AMMECR1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 1801042	NM_015365.3(AMMECR1):c.898G>T (p.Glu300Ter)	AMMECR1 (E177* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1285799	NM_015365.3(AMMECR1):c.887+44G>T	AMMECR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287673	NM_015365.3(AMMECR1):c.887+43T>A	AMMECR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254296	NM_015365.3(AMMECR1):c.794G>A (p.Trp265Ter)	AMMECR1 (W142* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1263366	NM_015365.3(AMMECR1):c.790+160C>T	AMMECR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2500484	NM_015365.3(AMMECR1):c.757G>A (p.Ala253Thr)	AMMECR1 (A130T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252717	NM_015365.3(AMMECR1):c.613A>T (p.Met205Leu)	AMMECR1 (M168L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312746	NM_015365.3(AMMECR1):c.526A>G (p.Ile176Val)	AMMECR1 (I176V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370797	NM_015365.3(AMMECR1):c.503G>A (p.Arg168Gln)	AMMECR1 (R168Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817076	NM_015365.3(AMMECR1):c.454dup (p.Arg152fs)	AMMECR1 (R152fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 817146	NM_015365.3(AMMECR1):c.433_448del (p.Tyr145fs)	AMMECR1 (Y22fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2501432	NM_015365.3(AMMECR1):c.202T>C (p.Cys68Arg)	AMMECR1 (C68R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1710539	NM_015365.3(AMMECR1):c.127G>A (p.Glu43Lys)	AMMECR1 (E43K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1329532	NM_015365.3(AMMECR1):c.86C>T (p.Ser29Phe)	AMMECR1 (S29F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579928	NM_015365.3(AMMECR1):c.23T>A (p.Val8Glu)	AMMECR1 (V8E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3360793	NM_015365.3(AMMECR1):c.943CAT[2] (p.His317del)	AMMECR1 (H194del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance

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Items: 33