ClinVar for Gene (Select 128071547) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154908	NM_014868.5(RNF10):c.53A>G (p.Asn18Ser)	LOC128071547, RNF10 (N18S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3154906	NM_014868.5(RNF10):c.31A>G (p.Thr11Ala)	LOC128071547, RNF10 (H49R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608853	NM_014868.5(RNF10):c.82T>A (p.Ser28Thr)	LOC128071547, RNF10 (S28T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534525	NM_014868.5(RNF10):c.65A>G (p.Asn22Ser)	LOC128071547, RNF10 (N22S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2329502	NM_014868.5(RNF10):c.57C>A (p.Ser19Arg)	LOC128071547, RNF10 (S19R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2217483	NM_014868.5(RNF10):c.142T>G (p.Ser48Ala)	LOC128071547, RNF10 (S48A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	ANKLE2, ARL6IP4 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	ACADS, ANAPC5 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	ZNF664, ZNF664-RFLNA +786 more	Copy number gain	See cases	GPathogenic