TMEM220-AS1[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 150528	GRCh38/hg38 17p13.1-12(chr17:10334509-10900316)x1	ADPRM, LOC112529895 +25 more	Copy number loss	See cases	GPathogenic
Select item 147149	GRCh38/hg38 17p13.1-12(chr17:10713492-11312542)x3	LOC121852923, LOC125177419 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2296614	NM_001004313.3(TMEM220):c.62C>T (p.Ala21Val)	TMEM220, TMEM220-AS1 (A21V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2555712	NM_001004313.3(TMEM220):c.59C>A (p.Ala20Glu)	TMEM220, TMEM220-AS1 (A20E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2234393	NM_001004313.3(TMEM220):c.37A>T (p.Met13Leu)	TMEM220, TMEM220-AS1 (M13L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3179182	NM_001004313.3(TMEM220):c.31G>A (p.Gly11Arg)	TMEM220, TMEM220-AS1 (G11R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2206610	NM_001004313.3(TMEM220):c.10G>A (p.Ala4Thr)	TMEM220-AS1, TMEM220 (A4T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance