RNF182[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 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 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	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 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	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 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	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 2472110	NM_152737.4(RNF182):c.24C>A (p.Asp8Glu)	RNF182 (D8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254459	NM_152737.4(RNF182):c.148A>C (p.Lys50Gln)	RNF182 (K50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155212	NM_152737.4(RNF182):c.172C>T (p.Pro58Ser)	RNF182 (P58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607720	NM_152737.4(RNF182):c.197T>A (p.Phe66Tyr)	RNF182 (F66Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310412	NM_152737.4(RNF182):c.229G>A (p.Glu77Lys)	RNF182 (E77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379064	NM_152737.4(RNF182):c.247G>A (p.Asp83Asn)	RNF182 (D83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314803	NM_152737.4(RNF182):c.358A>G (p.Ser120Gly)	RNF182 (S120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155213	NM_152737.4(RNF182):c.402G>A (p.Met134Ile)	RNF182 (M134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314802	NM_152737.4(RNF182):c.428C>A (p.Ser143Tyr)	RNF182 (S143Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473005	NM_152737.4(RNF182):c.431T>G (p.Leu144Arg)	RNF182 (L144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222457	NM_152737.4(RNF182):c.440C>T (p.Thr147Ile)	RNF182 (T147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275287	NM_152737.4(RNF182):c.463C>A (p.Pro155Thr)	RNF182 (P155T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514213	NM_152737.4(RNF182):c.521C>T (p.Thr174Met)	RNF182 (T174M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307647	NM_152737.4(RNF182):c.547C>T (p.Arg183Trp)	RNF182 (R183W)	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 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 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 523282	GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)	RNF182, SIRT5 +6 more	Copy number gain	Astigmatism +12 more	GUncertain significance
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

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Items: 41