ClinVar for Gene (Select 9025) - ClinVar

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

Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 2656525	NM_003958.4(RNF8):c.219A>G (p.Gln73=)	RNF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 780620	NM_003958.4(RNF8):c.240+8A>G	RNF8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 27