ClinVar for Gene (Select 144717) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306095	NM_144671.6(PHETA1):c.164G>A (p.Arg55His)	PHETA1 (R55H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306094	NM_144671.6(PHETA1):c.410C>G (p.Ala137Gly)	PHETA1 (A150G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306093	NM_144671.6(PHETA1):c.503C>T (p.Pro168Leu)	PHETA1 (P168L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306092	NM_144671.6(PHETA1):c.631C>T (p.Arg211Trp)	PHETA1 (R211W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306091	NM_144671.6(PHETA1):c.89G>A (p.Arg30Gln)	PHETA1 (R30Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212039	NM_144671.6(PHETA1):c.50C>T (p.Pro17Leu)	PHETA1 (P17L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212037	NM_144671.6(PHETA1):c.707G>A (p.Arg236Gln)	PHETA1 (R236Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212036	NM_144671.6(PHETA1):c.706C>T (p.Arg236Trp)	PHETA1 (R236W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212035	NM_144671.6(PHETA1):c.677G>A (p.Arg226Gln)	PHETA1 (R239Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3212034	NM_144671.6(PHETA1):c.676C>T (p.Arg226Trp)	PHETA1 (R226W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212033	NM_144671.6(PHETA1):c.662T>C (p.Met221Thr)	PHETA1 (M221T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212032	NM_144671.6(PHETA1):c.620C>T (p.Pro207Leu)	PHETA1 (P207L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212031	NM_144671.6(PHETA1):c.529C>T (p.Arg177Trp)	PHETA1 (R177W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212030	NM_144671.6(PHETA1):c.452C>T (p.Ser151Phe)	PHETA1 (S151F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212029	NM_144671.6(PHETA1):c.433T>C (p.Ser145Pro)	PHETA1 (S158P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212028	NM_144671.6(PHETA1):c.305A>G (p.Glu102Gly)	PHETA1 (E102G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212027	NM_144671.6(PHETA1):c.266G>A (p.Arg89His)	PHETA1 (R102H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212026	NM_144671.6(PHETA1):c.136C>T (p.Leu46Phe)	PHETA1 (L46F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607765	NM_144671.6(PHETA1):c.260G>A (p.Arg87Gln)	PHETA1 (R87Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590855	NM_144671.6(PHETA1):c.716G>A (p.Arg239His)	PHETA1 (R239H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545708	NM_144671.6(PHETA1):c.49C>G (p.Pro17Ala)	PHETA1 (P17A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527992	NM_144671.6(PHETA1):c.172G>A (p.Val58Met)	PHETA1 (V58M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466363	NM_144671.6(PHETA1):c.148G>A (p.Glu50Lys)	PHETA1 (E50K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
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

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Links from Gene

Items: 30