C1970458[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 873598	NM_022356.4(P3H1):c.*257G>A	P3H1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 8 +2 more	GBenign
Select item 995680	NM_022356.4(P3H1):c.2190G>A (p.Ser730=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 1361320	NM_022356.4(P3H1):c.2154dup (p.Glu719fs)	P3H1 (E719fs)	Duplication (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GPathogenic
Select item 536810	NM_022356.4(P3H1):c.2155G>A (p.Glu719Lys)	P3H1 (E719K)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 684744	NM_022356.4(P3H1):c.2131dup (p.Leu711fs)	P3H1 (L711fs)	Duplication (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GPathogenic/Likely pathogenic
Select item 388930	NM_022356.4(P3H1):c.2115C>T (p.Leu705=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GBenign
Select item 1436993	NM_022356.4(P3H1):c.2110G>C (p.Asp704His)	P3H1 (D704H)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 546430	NM_022356.4(P3H1):c.2104G>A (p.Glu702Lys)	P3H1 (E702K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 440017	NM_022356.4(P3H1):c.2055+193G>A	P3H1 (G750R)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GBenign/Likely benign
Select item 2572759	NM_022356.4(P3H1):c.2055+86A>G	P3H1 (K714R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 440016	NM_022356.4(P3H1):c.2055+70G>T	P3H1 (A709S)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GBenign/Likely benign
Select item 1259	NM_022356.4(P3H1):c.2055+18G>A	P3H1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GPathogenic/Likely pathogenic
Select item 379445	NM_022356.4(P3H1):c.2055+17C>T	P3H1 (A691V)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8 +2 more	GBenign
Select item 440020	NM_022356.4(P3H1):c.2055+13C>G	P3H1 (R690G)	Single nucleotide variant (missense variant +1 more)	Osteogenesis Imperfecta, Recessive +2 more	GBenign/Likely benign
Select item 1424220	NM_022356.4(P3H1):c.2053C>T (p.Arg685Trp)	P3H1 (R685W)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
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 +3 more	GUncertain significance
Select item 1063677	NM_022356.4(P3H1):c.1945G>A (p.Val649Met)	P3H1 (V649M)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 1700934	NM_022356.4(P3H1):c.1919A>G (p.Glu640Gly)	P3H1 (E640G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1486163	NM_022356.4(P3H1):c.1915-1G>A	P3H1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 379422	NM_022356.4(P3H1):c.1915-20T>G	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8 +2 more	GBenign
Select item 982090	NM_022356.4(P3H1):c.1839-2A>C	P3H1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type 8	GPathogenic/Likely pathogenic
Select item 674901	NM_022356.4(P3H1):c.1839-30G>A	P3H1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 468975	NM_022356.4(P3H1):c.1838+5G>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8 +2 more	GUncertain significance
Select item 852082	NM_022356.4(P3H1):c.1831G>T (p.Asp611Tyr)	P3H1 (D611Y)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 578914	NM_022356.4(P3H1):c.1828C>T (p.Arg610Cys)	P3H1 (R610C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 429864	NM_022356.4(P3H1):c.1806A>C (p.Lys602Asn)	P3H1 (K602N)	Single nucleotide variant (missense variant)	P3H1-related disorder +3 more	GUncertain significance
Select item 501006	NM_022356.4(P3H1):c.1792C>T (p.Leu598Phe)	P3H1 (L598F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 468973	NM_022356.4(P3H1):c.1761C>T (p.His587=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8 +1 more	GLikely benign
Select item 731939	NM_022356.4(P3H1):c.1740G>A (p.Lys580=)	P3H1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 386781	NM_022356.4(P3H1):c.1716C>T (p.Ile572=)	P3H1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1702034	NM_022356.4(P3H1):c.1667del (p.Asp556fs)	P3H1 (D556fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 8 +1 more	GLikely pathogenic
Select item 468971	NM_022356.4(P3H1):c.1660C>T (p.Arg554Cys)	P3H1 (R554C)	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 536812	NM_022356.4(P3H1):c.1616A>G (p.Tyr539Cys)	P3H1 (Y539C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 1306461	NM_022356.4(P3H1):c.1529A>C (p.Asn510Thr)	P3H1 (N510T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 597020	NM_022356.4(P3H1):c.1523C>G (p.Thr508Ser)	P3H1 (T508S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 772424	NM_022356.4(P3H1):c.1517C>G (p.Pro506Arg)	P3H1 (P506R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 874644	NM_022356.4(P3H1):c.1429G>A (p.Val477Ile)	P3H1 (V477I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 515888	NM_022356.4(P3H1):c.1425C>T (p.Asp475=)	P3H1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 536808	NM_022356.4(P3H1):c.1411C>T (p.Arg471Trp)	P3H1 (R471W)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 1707605	NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)	P3H1 (K464fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 8	GPathogenic/Likely pathogenic
Select item 284532	NM_022356.4(P3H1):c.1346-1G>C	P3H1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1131760	NM_022356.4(P3H1):c.1308C>T (p.Thr436=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8 +1 more	GLikely benign
Select item 1003972	NM_022356.4(P3H1):c.1307C>T (p.Thr436Ile)	P3H1 (T436I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
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 875585	NM_022356.4(P3H1):c.1247G>A (p.Arg416His)	P3H1 (R416H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 451264	NM_022356.4(P3H1):c.1243G>A (p.Val415Ile)	P3H1 (V415I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +2 more	GUncertain significance
Select item 440021	NM_022356.4(P3H1):c.1231C>T (p.Arg411Trp)	P3H1 (R411W)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	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 536813	NM_022356.4(P3H1):c.1208T>C (p.Leu403Ser)	P3H1 (L403S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 1722452	NM_022356.4(P3H1):c.1170G>A (p.Pro390=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 583135	NM_022356.4(P3H1):c.1141G>C (p.Asp381His)	P3H1 (D381H)	Single nucleotide variant (missense variant)	P3H1-related disorder +1 more	GUncertain significance
Select item 650156	NM_022356.4(P3H1):c.1135G>A (p.Ala379Thr)	P3H1 (A379T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 291047	NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter)	P3H1 (E374*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8 +1 more	GPathogenic/Likely pathogenic
Select item 1503338	NM_022356.4(P3H1):c.1103G>A (p.Arg368Gln)	P3H1 (R368Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1258	NM_022356.4(P3H1):c.1102C>T (p.Arg368Ter)	P3H1 (R368*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1702031	NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter)	P3H1 (R366*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8 +1 more	GPathogenic/Likely pathogenic
Select item 1253	NM_022356.4(P3H1):c.1080+1G>T	P3H1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type 8 +2 more	GPathogenic
Select item 288132	NM_022356.4(P3H1):c.1071C>T (p.Gly357=)	P3H1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 379444	NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg)	P3H1 (G349R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +2 more	GConflicting classifications of pathogenicity
Select item 658659	NM_022356.4(P3H1):c.970G>A (p.Ala324Thr)	P3H1 (A324T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 569598	NM_022356.4(P3H1):c.953C>T (p.Thr318Ile)	P3H1 (T318I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 440019	NM_022356.4(P3H1):c.940+90A>G	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8 +2 more	GBenign/Likely benign
Select item 1076376	NM_022356.4(P3H1):c.838C>T (p.Gln280Ter)	P3H1 (Q280*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 873725	NM_022356.4(P3H1):c.826C>G (p.Leu276Val)	P3H1 (L276V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 1006078	NM_022356.4(P3H1):c.815A>T (p.Tyr272Phe)	P3H1 (Y272F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 873726	NM_022356.4(P3H1):c.808+5G>A	P3H1	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 873727	NM_022356.4(P3H1):c.807A>G (p.Thr269=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 289859	NM_022356.4(P3H1):c.689C>T (p.Ala230Val)	P3H1 (A230V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 874690	NM_022356.4(P3H1):c.599T>G (p.Leu200Arg)	P3H1 (L200R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 646432	NM_022356.4(P3H1):c.511G>A (p.Val171Met)	P3H1 (V171M)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 788239	NM_022356.4(P3H1):c.435C>G (p.Pro145=)	P3H1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 468983	NM_022356.4(P3H1):c.426G>T (p.Lys142Asn)	P3H1 (K142N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +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 1702038	NM_022356.4(P3H1):c.368G>C (p.Cys123Ser)	P3H1 (C123S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 581314	NM_022356.4(P3H1):c.331G>C (p.Gly111Arg)	P3H1 (G111R)	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
Select item 1388430	NM_022356.4(P3H1):c.211C>T (p.Leu71Phe)	LOC129930352, P3H1 (L71F)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 1030803	NM_022356.4(P3H1):c.113T>C (p.Leu38Pro)	P3H1 (L38P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 1312549	NM_022356.4(P3H1):c.79G>A (p.Glu27Lys)	P3H1 (E27K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1707924	NM_022356.4(P3H1):c.41C>G (p.Ala14Gly)	P3H1 (A14G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 702026	NM_022356.4(P3H1):c.33A>G (p.Thr11=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8 +1 more	GBenign/Likely benign
Select item 875633	NM_022356.4(P3H1):c.7G>A (p.Val3Ile)	P3H1 (V3I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 85