RNF2[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 144788	GRCh38/hg38 1q25.3(chr1:184102589-185593977)x1	C1orf21, C1orf21-DT +37 more	Copy number loss	See cases	GUncertain significance
Select item 148400	GRCh38/hg38 1q25.3-31.1(chr1:184271950-186238594)x1	C1orf21, C1orf21-DT +46 more	Copy number loss	See cases	GUncertain significance
Select item 144456	GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1	GS1-204I12.4, HMCN1 +44 more	Copy number loss	See cases	GPathogenic
Select item 2515136	NM_007212.4(RNF2):c.13G>T (p.Val5Leu)	RNF2 (V5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240040	NM_007212.4(RNF2):c.13G>A (p.Val5Met)	RNF2 (V5M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314823	NM_007212.4(RNF2):c.22A>T (p.Asn8Tyr)	RNF2 (N8Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639639	NM_007212.4(RNF2):c.24C>T (p.Asn8=)	RNF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 988094	NM_007212.4(RNF2):c.209G>A (p.Arg70His)	RNF2 (R70H)	Single nucleotide variant (missense variant)	RNF2-associated neurodevelopmental condition	GUncertain significance
Select item 2279359	NM_007212.4(RNF2):c.218C>T (p.Ala73Val)	RNF2 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1189036	NM_007212.4(RNF2):c.246T>G (p.Ser82Arg)	RNF2 (S82R)	Single nucleotide variant (missense variant)	Luo-Schoch-Yamamoto syndrome	GPathogenic
Select item 2637754	NM_007212.4(RNF2):c.248+11A>T	RNF2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3362726	NM_007212.4(RNF2):c.379G>A (p.Val127Ile)	RNF2 (V127I)	Single nucleotide variant (missense variant)	Luo-Schoch-Yamamoto syndrome	GUncertain significance
Select item 2513133	NM_007212.4(RNF2):c.395A>G (p.Asn132Ser)	RNF2 (N132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572444	NM_007212.4(RNF2):c.465-1G>A	RNF2	Single nucleotide variant (splice acceptor variant)	Luo-Schoch-Yamamoto syndrome	GUncertain significance
Select item 2255164	NM_007212.4(RNF2):c.643G>T (p.Ala215Ser)	RNF2 (A215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500330	NM_007212.4(RNF2):c.658_659insC (p.Met220fs)	RNF2 (M220fs)	Insertion (frameshift variant)	Luo-Schoch-Yamamoto syndrome	GLikely benign
Select item 2319271	NM_007212.4(RNF2):c.658A>G (p.Met220Val)	RNF2 (M220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335004	NM_007212.4(RNF2):c.734C>T (p.Thr245Met)	RNF2 (T245M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3314824	NM_007212.4(RNF2):c.752C>G (p.Ser251Cys)	RNF2 (S251C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242019	NM_007212.4(RNF2):c.766G>C (p.Val256Leu)	RNF2 (V256L)	Single nucleotide variant (missense variant)	Luo-Schoch-Yamamoto syndrome	GUncertain significance
Select item 2508190	NM_007212.4(RNF2):c.821G>A (p.Ser274Asn)	RNF2 (S274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066073	NM_007212.4(RNF2):c.902A>G (p.Gln301Arg)	RNF2 (Q301R)	Single nucleotide variant (missense variant)	Luo-Schoch-Yamamoto syndrome	GUncertain significance
Select item 2639640	NM_007212.4(RNF2):c.966C>T (p.Asn322=)	RNF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3155252	NM_007212.4(RNF2):c.975G>C (p.Met325Ile)	RNF2 (M325I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339946	NM_007212.4(RNF2):c.989C>T (p.Ala330Val)	RNF2 (A330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038190	NM_007212.4(RNF2):c.995C>A (p.Thr332Lys)	RNF2 (T332K)	Single nucleotide variant (missense variant)	RNF2-related disorder	GUncertain significance
Select item 2633881	NM_007212.4(RNF2):c.1008A>G (p.Lys336=)	RNF2	Single nucleotide variant (synonymous variant)	RNF2-related disorder	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
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
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 49