TMEM220[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 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	LOC126862500, LOC126862501 +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 2328523	NM_001004313.3(TMEM220):c.445C>T (p.Arg149Trp)	TMEM220 (R119W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553120	NM_001004313.3(TMEM220):c.398T>C (p.Leu133Pro)	TMEM220 (L103P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647483	NM_001004313.3(TMEM220):c.373T>C (p.Leu125=)	TMEM220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2532579	NM_001004313.3(TMEM220):c.340T>G (p.Ser114Ala)	TMEM220 (S104A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732805	NM_001004313.3(TMEM220):c.251G>A (p.Arg84His)	TMEM220 (R74H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2390509	NM_001004313.3(TMEM220):c.212C>T (p.Thr71Met)	TMEM220 (T71M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2647484	NM_001004313.3(TMEM220):c.193A>G (p.Ile65Val)	TMEM220 (I55V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3179181	NM_001004313.3(TMEM220):c.168T>A (p.Asn56Lys)	TMEM220 (N46K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179180	NM_001004313.3(TMEM220):c.112A>G (p.Thr38Ala)	TMEM220 (T38A +1 more)	Single nucleotide variant (missense variant)	not specified	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, TMEM220-AS1 (A4T)	Single nucleotide variant (non-coding transcript variant +1 more)	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 1807888	GRCh37/hg19 17p13.1-12(chr17:10517286-10814075)x3	ADPRM, MYH3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 929830	GRCh37/hg19 17p13.1-12(chr17:10493837-15099023)x1	ADPRM, ARHGAP44 +14 more	Copy number loss	See cases	GUncertain significance
Select item 688631	GRCh37/hg19 17p13.1-12(chr17:10604119-10744366)x1	ADPRM, PIRT +1 more	Copy number loss	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 394496	GRCh37/hg19 17p13.1(chr17:10583805-10633471)x1	ADPRM, SCO1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 31