28281[HGNC] - ClinVar - NCBI

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Items: 17

	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 3179379	NM_152261.4(TMEM263):c.105G>T (p.Leu35Phe)	TMEM263 (L12F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513158	NM_152261.4(TMEM263):c.110G>A (p.Arg37His)	TMEM263 (R37H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179380	NM_152261.4(TMEM263):c.218C>A (p.Thr73Lys)	TMEM263 (T50K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179381	NM_152261.4(TMEM263):c.277G>A (p.Gly93Ser)	TMEM263 (G93S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179382	NM_152261.4(TMEM263):c.278G>A (p.Gly93Asp)	TMEM263 (G70D +1 more)	Single nucleotide variant (missense variant)	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 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