RNF222[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	ALOX12B, ALOX15B +110 more	Copy number gain	See cases	GUncertain significance
Select item 3155347	NM_001146684.3(RNF222):c.632C>T (p.Pro211Leu)	RNF222 (P211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322449	NM_001146684.3(RNF222):c.572C>G (p.Ser191Trp)	RNF222 (S191W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314865	NM_001146684.3(RNF222):c.571T>C (p.Ser191Pro)	RNF222 (S191P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346424	NM_001146684.3(RNF222):c.536T>C (p.Leu179Pro)	RNF222 (L179P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3314867	NM_001146684.3(RNF222):c.526G>A (p.Glu176Lys)	RNF222 (E176K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384018	NM_001146684.3(RNF222):c.520C>T (p.Leu174Phe)	RNF222 (L174F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314866	NM_001146684.3(RNF222):c.470T>C (p.Met157Thr)	RNF222 (M157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389935	NM_001146684.3(RNF222):c.436G>C (p.Glu146Gln)	RNF222 (E146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297816	NM_001146684.3(RNF222):c.433C>T (p.Arg145Trp)	RNF222 (R145W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155346	NM_001146684.3(RNF222):c.366G>C (p.Gln122His)	RNF222 (Q122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402372	NM_001146684.3(RNF222):c.362G>C (p.Gly121Ala)	RNF222 (G121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549727	NM_001146684.3(RNF222):c.331G>A (p.Ala111Thr)	RNF222 (A111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592112	NM_001146684.3(RNF222):c.260C>T (p.Thr87Met)	RNF222 (T87M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409119	NM_001146684.3(RNF222):c.260C>A (p.Thr87Lys)	RNF222 (T87K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458350	NM_001146684.3(RNF222):c.248A>G (p.Lys83Arg)	RNF222 (K83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402371	NM_001146684.3(RNF222):c.227G>A (p.Arg76His)	RNF222 (R76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155345	NM_001146684.3(RNF222):c.226C>T (p.Arg76Cys)	RNF222 (R76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155344	NM_001146684.3(RNF222):c.212G>T (p.Ser71Ile)	RNF222 (S71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375544	NM_001146684.3(RNF222):c.199G>A (p.Val67Ile)	RNF222 (V67I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155343	NM_001146684.3(RNF222):c.175C>G (p.Leu59Val)	RNF222 (L59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155342	NM_001146684.3(RNF222):c.148C>T (p.Arg50Cys)	RNF222 (R50C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155341	NM_001146684.3(RNF222):c.133T>A (p.Tyr45Asn)	RNF222 (Y45N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155348	NM_001146684.3(RNF222):c.96C>G (p.Ser32Arg)	RNF222 (S32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512904	NM_001146684.3(RNF222):c.31G>A (p.Gly11Ser)	RNF222 (G11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544134	NM_001146684.3(RNF222):c.26G>A (p.Ser9Asn)	RNF222 (S9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 687831	GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3	ALOX12B, ALOX15B +32 more	Copy number gain	not provided	GUncertain significance
Select item 564396	GRCh37/hg19 17p13.1(chr17:8219814-8676240)x3	ARHGEF15, CCDC42 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 42