9866[HGNC] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic
Select item 1277170	NM_000966.6(RARG):c.1280C>T (p.Ser427Leu)	RARG (S306L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3151653	NM_000966.6(RARG):c.511G>C (p.Val171Leu)	RARG (V50L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543727	NM_000966.6(RARG):c.511G>A (p.Val171Met)	RARG (V50M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214248	NM_000966.6(RARG):c.495C>G (p.Asn165Lys)	RARG (N154K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312818	NM_000966.6(RARG):c.490C>T (p.Arg164Trp)	RARG (R142W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151652	NM_000966.6(RARG):c.383G>A (p.Arg128His)	RARG (R128H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221960	NM_000966.6(RARG):c.245C>T (p.Pro82Leu)	RARG (P82L +2 more)	Single nucleotide variant (missense variant +1 more)	Irido-corneo-trabecular dysgenesis	GLikely benign
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 3151654	NM_000966.6(RARG):c.82G>A (p.Ala28Thr)	RARG (A28T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063260	GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3	AAAS, AMHR2 +19 more	Copy number gain	not specified	GUncertain significance
Select item 2684673	GRCh37/hg19 12q13.13(chr12:53583828-53922629)x3	AAAS, AMHR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 980438	GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1	PCBP2, SP7 +17 more	Copy number loss	not provided	GUncertain significance
Select item 980437	GRCh37/hg19 12q13.13(chr12:53614278-53971802)x1	AAAS, PCBP2 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221489	GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3	ZNF740, ITGB7 +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 22