ClinVar for Gene (Select 926) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3140706	NM_172213.5(CD8B):c.659A>G (p.Gln220Arg)	CD8B (Q190R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3140705	NM_004931.5(CD8B):c.482A>G (p.Glu161Gly)	CD8B (E161G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140704	NM_004931.5(CD8B):c.379G>A (p.Gly127Arg)	CD8B (G127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140703	NM_004931.5(CD8B):c.355G>A (p.Val119Ile)	CD8B (V119I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140702	NM_004931.5(CD8B):c.331A>C (p.Ser111Arg)	CD8B (S111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591344	NM_004931.5(CD8B):c.178G>A (p.Ala60Thr)	CD8B (A60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525621	NM_004931.5(CD8B):c.293G>A (p.Arg98Gln)	CD8B (R98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468775	NM_004931.5(CD8B):c.607C>T (p.Arg203Cys)	CD8B (R173C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340963	NM_004931.5(CD8B):c.508C>G (p.Pro170Ala)	CD8B (P170A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339712	NM_004931.5(CD8B):c.568G>A (p.Ala190Thr)	CD8B (A190T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300020	NM_004931.5(CD8B):c.350T>C (p.Met117Thr)	CD8B (M117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251046	NM_004931.5(CD8B):c.380G>T (p.Gly127Val)	CD8B (G127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249433	NM_004931.5(CD8B):c.134T>C (p.Ile45Thr)	CD8B (I45T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224435	NM_004931.5(CD8B):c.358G>A (p.Gly120Arg)	CD8B (G120R)	Single nucleotide variant (missense variant)	not specified	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 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
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
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 60182	GRCh38/hg38 2p11.2(chr2:86395172-86859284)x1	CD8A, CD8B +28 more	Copy number loss	See cases	GPathogenic
Select item 59790	GRCh38/hg38 2p11.2(chr2:86797744-87705899)x3	CD8A, CD8B +14 more	Copy number gain	See cases	GBenign

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Links from Gene

Items: 28