8832[Gene ID] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3264885	NM_003874.4(CD84):c.962C>A (p.Thr321Asn)	CD84, LOC105371468 +1 more (T332N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538874	NM_003874.4(CD84):c.935G>A (p.Ser312Asn)	CD84, LOC105371468 +1 more (S312N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264886	NM_003874.4(CD84):c.925G>A (p.Gly309Arg)	CD84, LOC105371468 +1 more (G309R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609990	NM_003874.4(CD84):c.904G>A (p.Val302Met)	CD84, LOC105371468 (V302M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140693	NM_003874.4(CD84):c.886A>G (p.Asn296Asp)	CD84, LOC105371468 (N296D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140692	NM_003874.4(CD84):c.782T>C (p.Ile261Thr)	CD84, LOC105371468 (I261T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264888	NM_003874.4(CD84):c.772A>G (p.Lys258Glu)	CD84, LOC105371468 (K269E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140691	NM_003874.4(CD84):c.715A>G (p.Ile239Val)	CD84, LOC105371468 (I125V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402348	NM_003874.4(CD84):c.685G>A (p.Val229Met)	CD84, LOC105371468 (V115M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360924	NM_003874.4(CD84):c.658C>T (p.Arg220Cys)	CD84, LOC105371468 (R106C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467678	NM_003874.4(CD84):c.646G>A (p.Ala216Thr)	CD84, LOC105371468 (A102T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470389	NM_003874.4(CD84):c.625C>T (p.Arg209Trp)	CD84, LOC105371468 (R209W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281540	NM_003874.4(CD84):c.620C>T (p.Ser207Phe)	CD84, LOC105371468 (S93F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242046	NM_003874.4(CD84):c.550C>G (p.Pro184Ala)	CD84, LOC105371468 (P184A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264883	NM_003874.4(CD84):c.506G>A (p.Ser169Asn)	CD84, LOC105371468 (S169N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399596	NM_003874.4(CD84):c.452T>G (p.Val151Gly)	CD84, LOC105371468 (V151G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598384	NM_003874.4(CD84):c.331A>T (p.Ile111Leu)	CD84, LOC105371468 (I111L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1321326	NM_003874.4(CD84):c.319del (p.Tyr107fs)	CD84, LOC105371468 (Y107fs)	Deletion (frameshift variant +1 more)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 3140689	NM_003874.4(CD84):c.277A>T (p.Asn93Tyr)	CD84, LOC105371468 (N93Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363410	NM_003874.4(CD84):c.269C>T (p.Pro90Leu)	CD84, LOC105371468 (P90L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470239	NM_003874.4(CD84):c.244T>G (p.Tyr82Asp)	CD84, LOC105371468 (Y82D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214446	NM_003874.4(CD84):c.215C>T (p.Pro72Leu)	CD84, LOC105371468 (P72L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264887	NM_003874.4(CD84):c.194C>T (p.Pro65Leu)	CD84, LOC105371468 (P65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140688	NM_003874.4(CD84):c.191C>A (p.Thr64Lys)	CD84, LOC105371468 (T64K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340301	NM_003874.4(CD84):c.14A>T (p.His5Leu)	CD84 (H5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685743	GRCh37/hg19 1q23.2-23.3(chr1:160368624-160871262)x1	CD244, CD48 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809079	GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	ATP1A2, ATP1A4 +27 more	Copy number gain	not provided	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 39