ClinVar for Gene (Select 9308) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264882	NM_004233.4(CD83):c.508A>G (p.Ser170Gly)	CD83 (S170G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264881	NM_004233.4(CD83):c.250G>T (p.Ala84Ser)	CD83 (A84S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140687	NM_004233.4(CD83):c.88G>A (p.Asp30Asn)	CD83, LOC123575673 (D30N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140686	NM_004233.4(CD83):c.364G>T (p.Val122Leu)	CD83 (V63L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140685	NM_004233.4(CD83):c.359G>A (p.Gly120Asp)	CD83 (G120D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140684	NM_004233.4(CD83):c.292A>G (p.Thr98Ala)	CD83 (T39A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140683	NM_004233.4(CD83):c.284G>A (p.Arg95Gln)	CD83 (R36Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140682	NM_004233.4(CD83):c.236A>T (p.Asn79Ile)	CD83 (N20I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140681	NM_004233.4(CD83):c.196G>T (p.Asp66Tyr)	CD83 (D66Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062894	GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1	ATXN1, CD83 +13 more	Copy number loss	not specified	GPathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2566694	NM_004233.4(CD83):c.529A>G (p.Lys177Glu)	CD83	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547210	NM_004233.4(CD83):c.125A>G (p.Gln42Arg)	CD83, LOC123575673	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406211	NM_004233.4(CD83):c.500G>A (p.Arg167Gln)	CD83	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365056	NM_004233.4(CD83):c.5C>T (p.Ser2Leu)	CD83, LOC123575673	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324455	NM_004233.4(CD83):c.64G>A (p.Glu22Lys)	CD83, LOC123575673	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273802	NM_004233.4(CD83):c.334C>T (p.Pro112Ser)	CD83	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211633	NM_004233.4(CD83):c.595C>T (p.Pro199Ser)	CD83	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1808641	GRCh37/hg19 6p23-22.3(chr6:13891547-15718444)x1	CD83, DTNBP1 +2 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527223	GRCh37/hg19 6p24.1-22.3(chr6:12924014-15975708)	CD83, DTNBP1 +9 more	Copy number loss	not specified	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 814791	GRCh37/hg19 6p23(chr6:14122526-14532758)x3	CD83	Copy number gain	not provided	GUncertain significance
Select item 782470	NM_004233.4(CD83):c.545G>A (p.Arg182Gln)	CD83 (R181Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689105	GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3	ATXN1, CAP2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 686044	GRCh37/hg19 6p23(chr6:13933934-14154068)x1	CD83, RNF182	Copy number loss	not provided	GUncertain significance
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146907	GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3	CD83, DTNBP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 43