12621[HGNC] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
Select item 154666	GRCh38/hg38 17p11.2(chr17:19744033-21598663)x3	AKAP10, ALDH3A1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 59297	GRCh38/hg38 17p11.2(chr17:20879426-22533437)x3	CCDC144NL-AS1, DHRS7B +41 more	Copy number gain	See cases	GUncertain significance
Select item 57506	GRCh38/hg38 17p11.2(chr17:20935766-21621469)x1	DHRS7B, KCNJ12 +31 more	Copy number loss	See cases	GUncertain significance
Select item 3331393	NM_015276.2(USP22):c.1297G>A (p.Asp433Asn)	USP22 (D433N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405053	NM_015276.2(USP22):c.1160A>G (p.His387Arg)	USP22 (H387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460457	NM_015276.2(USP22):c.1082C>T (p.Thr361Met)	USP22 (T361M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601176	NM_015276.2(USP22):c.1070C>T (p.Ser357Leu)	USP22 (S357L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331392	NM_015276.2(USP22):c.1066G>A (p.Val356Met)	USP22 (V356M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598088	NM_015276.2(USP22):c.517A>G (p.Ile173Val)	USP22 (I173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187275	NM_015276.2(USP22):c.274G>C (p.Glu92Gln)	USP22 (E92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215642	NM_015276.2(USP22):c.202G>A (p.Val68Ile)	USP22 (V68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2685057	GRCh37/hg19 17p11.2-11.1(chr17:20675399-22227823)x4	DHRS7B, KCNJ12 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684839	GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3	AKAP10, ALDH3A1 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 564421	GRCh37/hg19 17p11.2-11.1(chr17:20465210-22261792)x3	USP22, MTRNR2L1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 442933	GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1	B9D1, AKAP10 +51 more	Copy number loss	See cases	GPathogenic
Select item 442185	GRCh37/hg19 17p11.2(chr17:20741728-22060092)x3	DHRS7B, KCNJ12 +6 more	Copy number gain	See cases	GUncertain significance
Select item 441980	GRCh37/hg19 17p11.2(chr17:20775032-21545209)x1	DHRS7B, KCNJ12 +5 more	Copy number loss	See cases	GUncertain significance
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

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Items: 22