"GeneDx"[submitter] AND "AP1S2"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 512230	NM_001272071.2(AP1S2):c.436-5C>T	AP1S2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 380610	NM_001272071.2(AP1S2):c.427-9C>A	AP1S2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1264730	NM_001272071.2(AP1S2):c.426+226A>G	AP1S2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266375	NM_001272071.2(AP1S2):c.426+206A>G	AP1S2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238955	NM_001272071.2(AP1S2):c.426+193T>C	AP1S2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2446573	NM_001272071.2(AP1S2):c.367C>T (p.Gln123Ter)	AP1S2 (Q123*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 449725	NM_001272071.2(AP1S2):c.289-2A>G	AP1S2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1276725	NM_001272071.2(AP1S2):c.288+73T>A	AP1S2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1711968	NM_001272071.2(AP1S2):c.259G>A (p.Val87Met)	AP1S2 (V87M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 10778	NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter)	AP1S2 (R52*)	Single nucleotide variant (nonsense +1 more)	Pettigrew syndrome +1 more	GPathogenic
Select item 280826	NM_001272071.2(AP1S2):c.92del (p.Thr31fs)	AP1S2 (T31fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1302899	NM_001272071.2(AP1S2):c.44T>G (p.Leu15Arg)	AP1S2 (L15R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 504198	NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter)	AP1S2 (R14*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1247168	NM_001272071.2(AP1S2):c.-1+227G>C	AP1S2, LOC130067985	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 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 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	FOXP3, FOXR2 +786 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	MCTS1, MECP2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	ABCB7, ABCD1 +821 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	ABCB7, ABCD1 +821 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	EOLA2, ERAS +822 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	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	RENBP, REPS2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	SPANXD, TCEAL4 +822 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARMCX2, CFAP47 +821 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	MAGEE2, MTRNR2L10 +822 more	Copy number gain	See cases	GPathogenic

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Items: 32