LOC126859666[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	AARS2, ABCC10 +2577 more	Copy number gain	See cases	GPathogenic
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 3155476	NM_003958.4(RNF8):c.908A>G (p.Gln303Arg)	LOC126859666, RNF8 (Q303R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance