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

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58587	GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3	AMELX, ANOS1 +152 more	Copy number gain	See cases	GPathogenic
Select item 58589	GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2	ACE2, ACE2-DT +168 more	Copy number gain	See cases	GPathogenic
Select item 1249778	NM_001142.2(AMELX):c.-12-300A>T	AMELX, ARHGAP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340173	NM_001142.2(AMELX):c.11G>A (p.Trp4Ter)	AMELX, ARHGAP6 (W4*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1281204	NM_001142.2(AMELX):c.54+65T>C	AMELX, ARHGAP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276391	NM_001142.2(AMELX):c.55-265G>A	AMELX, ARHGAP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 11142	NM_001142.2(AMELX):c.166C>A (p.Pro56Thr)	AMELX, ARHGAP6 (P70T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 262997	NM_001142.2(AMELX):c.219C>T (p.His73=)	AMELX, ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1225016	NM_001142.2(AMELX):c.570+158G>A	ARHGAP6, AMELX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178767	NC_000023.11:g.11300828T>C	AMELX, ARHGAP6	Single nucleotide variant (intron variant)	not provided	GBenign
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 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253612	GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1	ARSF, XG +28 more	Copy number loss	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 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253523	GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2	CTPS2, FAM9C +106 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 253489	GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1	DCAF8L2, TBL1X +126 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

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Items: 27