"Fulgent Genetics, Fulgent Genetics"[submitter] AND "P3H1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1259	NM_022356.4(P3H1):c.2055+18G>A	P3H1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 440020	NM_022356.4(P3H1):c.2055+13C>G	P3H1 (R690G)	Single nucleotide variant (missense variant +1 more)	Osteogenesis Imperfecta, Recessive +3 more	GBenign/Likely benign
Select item 632107	NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter)	P3H1 (R681*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8 +1 more	GPathogenic/Likely pathogenic
Select item 966464	NM_022356.4(P3H1):c.2006G>A (p.Arg669His)	P3H1 (R669H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 650310	NM_022356.4(P3H1):c.1963A>G (p.Thr655Ala)	P3H1 (T655A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 468975	NM_022356.4(P3H1):c.1838+5G>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 429864	NM_022356.4(P3H1):c.1806A>C (p.Lys602Asn)	P3H1 (K602N)	Single nucleotide variant (missense variant)	Osteogenesis Imperfecta, Recessive +3 more	GUncertain significance
Select item 864549	NM_022356.4(P3H1):c.1637G>A (p.Arg546Gln)	P3H1 (R546Q)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 426382	NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg)	P3H1 (G502R)	Single nucleotide variant (missense variant)	Osteogenesis Imperfecta, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 951495	NM_022356.4(P3H1):c.1285G>A (p.Glu429Lys)	P3H1 (E429K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 662228	NM_022356.4(P3H1):c.1224G>A (p.Lys408=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 706626	NM_022356.4(P3H1):c.1215G>A (p.Glu405=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 1253	NM_022356.4(P3H1):c.1080+1G>T	P3H1	Single nucleotide variant (splice donor variant)	P3H1-related condition +3 more	GPathogenic
Select item 468983	NM_022356.4(P3H1):c.426G>T (p.Lys142Asn)	P3H1 (K142N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1349101	NM_022356.4(P3H1):c.394C>T (p.Leu132Phe)	P3H1 (L132F)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 817615	NM_022356.4(P3H1):c.232del (p.Gln78fs)	LOC129930352, P3H1 (Q78fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic