ClinVar for MedGen (Select 934765) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168418	NM_018063.5(HELLS):c.231A>C (p.Ile77=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1166855	NM_018063.5(HELLS):c.31+20T>C	HELLS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1032786	NM_018063.5(HELLS):c.360A>G (p.Glu120=)	HELLS (K4R)	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 1028083	NM_018063.5(HELLS):c.1537A>G (p.Arg513Gly)	HELLS (R389G +9 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4 +2 more	GUncertain significance
Select item 998163	NM_018063.5(HELLS):c.2077G>T (p.Asp693Tyr)	HELLS (D287Y +9 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	GUncertain significance
Select item 811038	NM_018063.5(HELLS):c.1258C>G (p.Leu420Val)	HELLS (L14V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 790454	NM_018063.5(HELLS):c.334G>A (p.Gly112Ser)	HELLS (G112S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 779935	NM_018063.5(HELLS):c.153+10G>T	HELLS	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4 +1 more	GBenign
Select item 776529	NM_018063.5(HELLS):c.270A>G (p.Gln90=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 768380	NM_018063.5(HELLS):c.2182A>G (p.Ile728Val)	HELLS (I590V +9 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 739088	NM_018063.5(HELLS):c.913A>G (p.Thr305Ala)	HELLS (T167A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 716400	NM_018063.5(HELLS):c.2T>C (p.Met1Thr)	HELLS (M1T)	Single nucleotide variant (missense variant +3 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4 +1 more	GBenign/Likely benign
Select item 710853	NM_018063.5(HELLS):c.993G>A (p.Thr331=)	HELLS	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 225528	NM_018063.5(HELLS):c.2394GTT[2] (p.Leu801del)	HELLS (L801del +9 more)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 225527	NM_018063.5(HELLS):c.374_381dup (p.Lys128Ter)	HELLS (K4* +2 more)	Duplication (nonsense +3 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	GPathogenic
Select item 225526	NM_018063.5(HELLS):c.610A>T (p.Lys204Ter)	HELLS (K204* +3 more)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	GPathogenic
Select item 225525	NM_018063.5(HELLS):c.2283_2286del (p.Ser762fs)	HELLS (S356fs +9 more)	Deletion (frameshift variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	GPathogenic
Select item 225524	NM_018063.5(HELLS):c.370+2T>A	HELLS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 225523	NM_018063.5(HELLS):c.2096A>G (p.Gln699Arg)	HELLS (Q699R +9 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	GPathogenic