RNF39[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 2360804	NM_025236.4(RNF39):c.1042G>C (p.Val348Leu)	RNF39 (V348L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155419	NM_025236.4(RNF39):c.1031C>T (p.Pro344Leu)	RNF39 (P278L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526496	NM_025236.4(RNF39):c.1025G>C (p.Arg342Pro)	RNF39 (R276P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320972	NM_025236.4(RNF39):c.986G>A (p.Gly329Glu)	RNF39 (G263E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600599	NM_025236.4(RNF39):c.983T>C (p.Leu328Pro)	RNF39 (L262P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373919	NM_025236.4(RNF39):c.937G>A (p.Gly313Ser)	RNF39 (G313S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656331	NM_025236.4(RNF39):c.900C>T (p.Asp300=)	RNF39	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3314904	NM_025236.4(RNF39):c.893G>T (p.Arg298Leu)	RNF39 (R298L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656332	NM_025236.4(RNF39):c.872A>G (p.Glu291Gly)	RNF39 (E291G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2623105	NM_025236.4(RNF39):c.736G>A (p.Gly246Ser)	RNF39 (G246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467510	NM_025236.4(RNF39):c.715G>C (p.Glu239Gln)	RNF39 (E239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155423	NM_025236.4(RNF39):c.610G>C (p.Ala204Pro)	RNF39 (A204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322872	NM_025236.4(RNF39):c.542G>A (p.Ser181Asn)	RNF39 (S181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314906	NM_025236.4(RNF39):c.538C>T (p.Arg180Cys)	RNF39 (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155422	NM_025236.4(RNF39):c.460A>G (p.Met154Val)	RNF39 (M154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360697	NM_025236.4(RNF39):c.443A>T (p.Tyr148Phe)	RNF39 (Y148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306928	NM_025236.4(RNF39):c.353T>C (p.Leu118Pro)	RNF39 (L118P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2259697	NM_025236.4(RNF39):c.271C>G (p.Leu91Val)	RNF39 (L91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492647	NM_025236.4(RNF39):c.253G>A (p.Val85Met)	RNF39 (V85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155421	NM_025236.4(RNF39):c.250G>C (p.Glu84Gln)	RNF39 (E84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155420	NM_025236.4(RNF39):c.242T>G (p.Leu81Arg)	RNF39 (L81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402489	NM_025236.4(RNF39):c.-17C>G	RNF39	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3314905	NM_025236.4(RNF39):c.-20C>T	RNF39	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2284666	NM_025236.4(RNF39):c.-23C>A	RNF39	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2248844	NM_025236.4(RNF39):c.-47C>A	RNF39	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2550388	NM_025236.4(RNF39):c.-131C>T	RNF39	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2550387	NM_025236.4(RNF39):c.-132G>T	RNF39	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2396790	NM_025236.3(RNF39):c.18G>C (p.Leu6Phe)	RNF39 (L6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314903	NM_025236.3(RNF39):c.14A>T (p.Asp5Val)	RNF39 (D5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808143	GRCh37/hg19 6p22.1(chr6:29730504-30202199)x3	HCG17, HLA-A +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807671	GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3	GABBR1, HCG17 +23 more	Copy number gain	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	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 221338	chr6:29910378..30075843 complex variant	HLA-A, POLR1H +3 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38