GPN3[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 2252796	NM_016301.4(GPN3):c.739C>T (p.His247Tyr)	GPN3 (H247Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336395	NM_016301.4(GPN3):c.710A>G (p.Asp237Gly)	GPN3 (D276G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291639	NM_016301.4(GPN3):c.533T>C (p.Leu178Pro)	GPN3 (L188P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621892	NM_016301.4(GPN3):c.521C>T (p.Thr174Ile)	GPN3 (T174I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588091	NM_016301.4(GPN3):c.463A>G (p.Ile155Val)	GPN3 (I194V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101352	NM_016301.4(GPN3):c.435G>A (p.Met145Ile)	GPN3 (M145I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251931	NM_016301.4(GPN3):c.365A>G (p.Gln122Arg)	GPN3 (Q132R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101351	NM_016301.4(GPN3):c.355G>C (p.Val119Leu)	GPN3 (V158L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377944	NM_016301.4(GPN3):c.209G>A (p.Arg70Gln)	GPN3 (R109Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544886	NM_016301.4(GPN3):c.64A>G (p.Thr22Ala)	GPN3 (T61A +2 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 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