CHMP3[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 60182	GRCh38/hg38 2p11.2(chr2:86395172-86859284)x1	CD8A, CD8B +28 more	Copy number loss	See cases	GPathogenic
Select item 3144449	NM_016079.4(CHMP3):c.544A>G (p.Ser182Gly)	CHMP3, RNF103-CHMP3 (S116G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144448	NM_016079.4(CHMP3):c.457G>A (p.Asp153Asn)	CHMP3, RNF103-CHMP3 (D153N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144447	NM_016079.4(CHMP3):c.456C>A (p.Asp152Glu)	CHMP3, RNF103-CHMP3 (D152E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144446	NM_016079.4(CHMP3):c.250A>G (p.Met84Val)	CHMP3, RNF103-CHMP3 (M18V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144445	NM_016079.4(CHMP3):c.233A>G (p.Tyr78Cys)	CHMP3, RNF103-CHMP3 (Y107C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144444	NM_016079.4(CHMP3):c.155C>T (p.Ala52Val)	CHMP3, RNF103-CHMP3 (A52V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144443	NM_016079.4(CHMP3):c.139T>G (p.Ser47Ala)	CHMP3, RNF103-CHMP3 (S76A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144442	NM_016079.4(CHMP3):c.116G>C (p.Arg39Thr)	CHMP3, RNF103-CHMP3 (R39T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144450	NM_016079.4(CHMP3):c.69A>G (p.Ile23Met)	CHMP3, RNF103-CHMP3 (I23M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533147	NM_016079.4(CHMP3):c.52G>A (p.Glu18Lys)	CHMP3, RNF103-CHMP3 (E18K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612097	NM_016079.4(CHMP3):c.40G>A (p.Glu14Lys)	CHMP3, CHMP3-AS1 +2 more (E14K)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2685855	GRCh37/hg19 2p11.2(chr2:86766962-86989047)x3	CHMP3, RMND5A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1410487	NC_000002.11:g.(?_86067267)_(87017948_?)del	IMMT, PTCD3 +10 more	Deletion	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic

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Items: 26