RNF8[gene] - ClinVar

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Items: 27

	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 3155475	NM_003958.4(RNF8):c.87G>C (p.Trp29Cys)	LOC129996327, RNF8 (W29C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656524	NM_003958.4(RNF8):c.120A>G (p.Val40=)	RNF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656525	NM_003958.4(RNF8):c.219A>G (p.Gln73=)	RNF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 780620	NM_003958.4(RNF8):c.240+8A>G	RNF8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2410426	NM_003958.4(RNF8):c.272G>A (p.Arg91His)	LOC126859666, RNF8 (R91H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394298	NM_003958.4(RNF8):c.394A>G (p.Ile132Val)	LOC126859666, RNF8 (I132V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537848	NM_003958.4(RNF8):c.406C>G (p.Leu136Val)	LOC126859666, RNF8 (L136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155472	NM_003958.4(RNF8):c.470G>A (p.Ser157Asn)	LOC126859666, RNF8 (S157N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155473	NM_003958.4(RNF8):c.593C>T (p.Thr198Ile)	LOC126859666, RNF8 (T198I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469065	NM_003958.4(RNF8):c.605A>G (p.Asn202Ser)	LOC126859666, RNF8 (N202S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155474	NM_003958.4(RNF8):c.649G>A (p.Gly217Arg)	LOC126859666, RNF8 (G217R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314940	NM_003958.4(RNF8):c.841A>G (p.Asn281Asp)	LOC126859666, RNF8 (N281D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314939	NM_003958.4(RNF8):c.895C>G (p.Leu299Val)	LOC126859666, RNF8 (L299V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155476	NM_003958.4(RNF8):c.908A>G (p.Gln303Arg)	LOC126859666, RNF8 (Q303R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290837	NM_003958.4(RNF8):c.1051A>G (p.Met351Val)	RNF8 (M351V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155470	NM_003958.4(RNF8):c.1071C>A (p.Ser357Arg)	RNF8 (S357R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475831	NM_003958.4(RNF8):c.1211T>C (p.Ile404Thr)	RNF8 (I404T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314938	NM_003958.4(RNF8):c.1321C>T (p.Arg441Trp)	RNF8 (R441W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278628	NM_003958.4(RNF8):c.1322G>A (p.Arg441Gln)	RNF8 (R441Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264190	NM_003958.4(RNF8):c.1328A>T (p.Asp443Val)	RNF8 (D443V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062895	GRCh37/hg19 6p21.2(chr6:37160048-38287691)x3	BTBD9, CCDC167 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
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

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Items: 27