55188[Gene ID] - ClinVar

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Items: 29

	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 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 153339	GRCh38/hg38 12q23.3(chr12:106804832-107556040)x3	ABTB3, CRY1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 3154213	NM_001330145.2(RIC8B):c.150A>G (p.Ile50Met)	RIC8B (I10M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257394	NM_001330145.2(RIC8B):c.212G>A (p.Arg71His)	RIC8B (R55H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314280	NM_001330145.2(RIC8B):c.314T>G (p.Leu105Trp)	RIC8B (L17W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154215	NM_001330145.2(RIC8B):c.347A>T (p.Glu116Val)	RIC8B (E28V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154216	NM_001330145.2(RIC8B):c.469A>G (p.Ile157Val)	RIC8B (I141V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467130	NM_001330145.2(RIC8B):c.637G>A (p.Asp213Asn)	RIC8B (D173N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154217	NM_001330145.2(RIC8B):c.680C>T (p.Ala227Val)	RIC8B (A227V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154218	NM_001330145.2(RIC8B):c.710T>C (p.Val237Ala)	RIC8B (V149A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314284	NM_001330145.2(RIC8B):c.761G>A (p.Arg254His)	RIC8B (R214H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457772	NM_001330145.2(RIC8B):c.929C>T (p.Thr310Met)	RIC8B (T294M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154212	NM_001330145.2(RIC8B):c.1024A>G (p.Ile342Val)	RIC8B (I254V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314282	NM_001330145.2(RIC8B):c.1133G>A (p.Arg378Gln)	RIC8B (R290Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314283	NM_001330145.2(RIC8B):c.1243C>T (p.His415Tyr)	RIC8B (H327Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314281	NM_001330145.2(RIC8B):c.1359G>A (p.Ala453=)	RIC8B	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2404394	NM_001330145.2(RIC8B):c.1643A>G (p.Gln548Arg)	RIC8B (Q460R +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3154214	NM_001330145.2(RIC8B):c.1663A>C (p.Thr555Pro)	RIC8B (T427P +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 988907	GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	ABTB3, ACACB +23 more	Copy number loss	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 686650	GRCh37/hg19 12q23.3(chr12:107119589-107216128)x3	RFX4, RIC8B	Copy number gain	not provided	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

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Items: 29