ClinVar for MedGen (Select 481194) - ClinVar

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

Links from MedGen

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069167	NM_002615.7(SERPINF1):c.532C>T (p.Gln178Ter)	SERPINF1 (Q178*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta type 6	GPathogenic
Select item 3064103	NM_002615.7(SERPINF1):c.4C>T (p.Gln2Ter)	SERPINF1 (Q2*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta type 6	GLikely pathogenic
Select item 2689943	NM_002615.7(SERPINF1):c.446G>A (p.Arg149His)	SERPINF1 (R149H)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6 +1 more	GConflicting classifications of pathogenicity
Select item 2627537	NM_002615.7(SERPINF1):c.786G>C (p.Lys262Asn)	SERPINF1 (K262N +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 2584800	NM_002615.7(SERPINF1):c.252T>G (p.Ser84Arg)	LOC130059892, SERPINF1 (S84R)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 2578340	NM_002615.7(SERPINF1):c.277T>C (p.Ser93Pro)	LOC130059892, SERPINF1 (S93P)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 2441975	NM_002615.7(SERPINF1):c.517C>T (p.Pro173Ser)	SERPINF1 (P173S)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 2435814	NM_002615.7(SERPINF1):c.-37C>A	SERPINF1	Single nucleotide variant (5 prime UTR variant)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 2413177	NM_002615.7(SERPINF1):c.194T>C (p.Leu65Pro)	SERPINF1, LOC130059891 (L65P)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 1709930	NM_002615.7(SERPINF1):c.1075del (p.Arg359fs)	SERPINF1 (R172fs +1 more)	Deletion (frameshift variant)	Osteogenesis imperfecta type 6	GLikely pathogenic
Select item 1687552	NM_002615.7(SERPINF1):c.1092G>A (p.Trp364Ter)	SERPINF1 (W177* +1 more)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 6	GLikely pathogenic
Select item 1687527	NM_002615.7(SERPINF1):c.1091G>A (p.Trp364Ter)	SERPINF1 (W177* +1 more)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 6	GLikely pathogenic
Select item 1685437	NM_002615.7(SERPINF1):c.998-2A>G	SERPINF1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type 6	GLikely pathogenic
Select item 1388059	NM_002615.7(SERPINF1):c.77del (p.Pro26fs)	SERPINF1 (P26fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1342721	NM_002615.7(SERPINF1):c.826TTC[1] (p.Phe277del)	SERPINF1 (F277del +1 more)	Microsatellite (inframe_deletion)	Osteogenesis imperfecta type 6	GLikely pathogenic
Select item 1342706	NM_002615.7(SERPINF1):c.77dup (p.Glu27fs)	SERPINF1 (E27fs)	Duplication (frameshift variant +1 more)	Osteogenesis imperfecta type 6	GPathogenic
Select item 1301343	NM_002615.7(SERPINF1):c.601G>A (p.Asp201Asn)	SERPINF1 (D14N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1299422	NM_002615.7(SERPINF1):c.907C>T (p.Arg303Ter)	SERPINF1 (R116* +1 more)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 6 +1 more	GPathogenic/Likely pathogenic
Select item 1299366	NM_002615.7(SERPINF1):c.278C>A (p.Ser93Ter)	SERPINF1, LOC130059892 (S93*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1064530	NM_002615.7(SERPINF1):c.838_839del (p.Leu280fs)	SERPINF1 (L280fs +1 more)	Deletion (frameshift variant)	Osteogenesis imperfecta type 6	GPathogenic
Select item 891945	NM_002615.7(SERPINF1):c.*39C>T	SERPINF1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 891887	NM_002615.7(SERPINF1):c.392C>A (p.Ala131Asp)	SERPINF1 (A131D)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteogenesis imperfecta type 6 +1 more	GConflicting classifications of pathogenicity
Select item 891886	NM_002615.7(SERPINF1):c.221C>T (p.Pro74Leu)	SERPINF1 (P74L)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 890698	NM_002615.7(SERPINF1):c.*37C>G	SERPINF1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 890697	NM_002615.7(SERPINF1):c.1214C>T (p.Ala405Val)	SERPINF1 (A405V +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 890696	NM_002615.7(SERPINF1):c.1062T>C (p.Thr354=)	SERPINF1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 890695	NM_002615.7(SERPINF1):c.1057C>A (p.Leu353Met)	SERPINF1 (L353M +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 6 +1 more	GUncertain significance
Select item 890694	NM_002615.7(SERPINF1):c.997+12G>A	SERPINF1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 890648	NM_002615.7(SERPINF1):c.167C>G (p.Ala56Gly)	LOC130059891, SERPINF1 (A56G)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6 +1 more	GBenign/Likely benign
Select item 890647	NM_002615.7(SERPINF1):c.42C>T (p.Leu14=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 6 +1 more	GConflicting classifications of pathogenicity
Select item 890646	NM_002615.7(SERPINF1):c.15G>T (p.Val5=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 6 +2 more	GConflicting classifications of pathogenicity
Select item 890119	NM_002615.7(SERPINF1):c.970G>A (p.Glu324Lys)	SERPINF1 (E324K +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 890118	NM_002615.7(SERPINF1):c.913C>G (p.Leu305Val)	SERPINF1 (L118V +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 6 +1 more	GUncertain significance
Select item 890117	NM_002615.7(SERPINF1):c.835C>T (p.Pro279Ser)	SERPINF1 (P279S +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 6 +1 more	GUncertain significance
Select item 890116	NM_002615.7(SERPINF1):c.826T>A (p.Phe276Ile)	SERPINF1 (F89I +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 6 +1 more	GUncertain significance
Select item 890115	NM_002615.7(SERPINF1):c.808G>A (p.Gly270Arg)	SERPINF1 (G270R +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 6 +2 more	GUncertain significance
Select item 889435	NM_002615.7(SERPINF1):c.715G>A (p.Val239Met)	SERPINF1 (V239M +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 6 +1 more	GUncertain significance
Select item 732208	NM_002615.7(SERPINF1):c.151G>A (p.Val51Met)	LOC130059891, SERPINF1 (V51M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 684393	NM_002615.7(SERPINF1):c.509C>T (p.Thr170Met)	SERPINF1 (T170M)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteogenesis imperfecta type 6 +1 more	GConflicting classifications of pathogenicity
Select item 684392	NM_002615.7(SERPINF1):c.502G>T (p.Val168Phe)	SERPINF1 (V168F)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GBenign
Select item 684391	NM_002615.7(SERPINF1):c.85-14C>A	SERPINF1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 6	GBenign
Select item 684390	NM_002615.7(SERPINF1):c.651G>A (p.Trp217Ter)	SERPINF1 (W217* +1 more)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 6	GPathogenic
Select item 684389	NM_002615.7(SERPINF1):c.1216C>T (p.Leu406Phe)	SERPINF1 (L219F +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 6	GLikely pathogenic
Select item 684388	NM_002615.7(SERPINF1):c.559C>T (p.Gln187Ter)	SERPINF1 (Q187*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta type 6	GLikely pathogenic
Select item 684387	NM_002615.7(SERPINF1):c.1217_1253del (p.Leu406fs)	SERPINF1 (L406fs +1 more)	Deletion (frameshift variant)	Osteogenesis imperfecta type 6	GPathogenic
Select item 674944	NM_002615.7(SERPINF1):c.440-28C>T	SERPINF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 674943	NM_002615.7(SERPINF1):c.440-39C>T	SERPINF1	Single nucleotide variant (5 prime UTR variant +1 more)	Osteogenesis imperfecta type 6 +1 more	GBenign
Select item 669732	NM_002615.7(SERPINF1):c.644-4C>T	SERPINF1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 632269	NM_002615.7(SERPINF1):c.397C>T (p.Gln133Ter)	SERPINF1 (Q133*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 623487	NM_002615.7(SERPINF1):c.727ATG[1] (p.Met244del)	SERPINF1 (M244del +1 more)	Microsatellite (inframe_deletion)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 322017	NM_002615.7(SERPINF1):c.*87T>C	SERPINF1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 322015	NM_002615.7(SERPINF1):c.1119C>G (p.Pro373=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 322014	NM_002615.7(SERPINF1):c.1112C>T (p.Thr371Ile)	SERPINF1 (T184I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 322013	NM_002615.7(SERPINF1):c.998-7T>A	SERPINF1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 322012	NM_002615.7(SERPINF1):c.963T>C (p.Tyr321=)	SERPINF1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 322011	NM_002615.7(SERPINF1):c.840G>T (p.Leu280=)	SERPINF1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 6 +1 more	GConflicting classifications of pathogenicity
Select item 322010	NM_002615.7(SERPINF1):c.756C>A (p.Arg252=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 322009	NM_002615.7(SERPINF1):c.713C>T (p.Thr238Ile)	SERPINF1 (T238I +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 322008	NM_002615.7(SERPINF1):c.644-14A>T	SERPINF1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 322007	NM_002615.7(SERPINF1):c.643+9G>A	SERPINF1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 322006	NM_002615.7(SERPINF1):c.643+6C>T	SERPINF1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 6 +1 more	GConflicting classifications of pathogenicity
Select item 322004	NM_002615.7(SERPINF1):c.395C>G (p.Pro132Arg)	SERPINF1 (P132R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 322003	NM_002615.7(SERPINF1):c.390T>C (p.Thr130=)	SERPINF1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 322002	NM_002615.7(SERPINF1):c.345C>T (p.Ser115=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 322001	NM_002615.7(SERPINF1):c.257C>T (p.Ala86Val)	LOC130059892, SERPINF1 (A86V)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 322000	NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met)	SERPINF1 (T72M)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6 +3 more	GBenign
Select item 321998	NM_002615.7(SERPINF1):c.85-14C>T	SERPINF1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 6 +1 more	GConflicting classifications of pathogenicity
Select item 291232	NM_002615.7(SERPINF1):c.555G>A (p.Gln185=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 289666	NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)	LOC130059891, SERPINF1 (V68L)	Single nucleotide variant (missense variant +1 more)	SERPINF1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 279577	NM_002615.7(SERPINF1):c.643+8C>T	SERPINF1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 6 +2 more	GBenign/Likely benign
Select item 224879	NM_002615.7(SERPINF1):c.1152_1170del (p.Phe384fs)	SERPINF1 (F197fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 218613	NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)	LOC130059892, SERPINF1 (S81C)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6 +4 more	GConflicting classifications of pathogenicity
Select item 41894	NM_002615.7(SERPINF1):c.653del (p.Val218fs)	SERPINF1 (V31fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 41893	NM_002615.7(SERPINF1):c.-9+2dup	SERPINF1	Duplication (splice donor variant)	Osteogenesis imperfecta type 6	GPathogenic
Select item 41892	NM_002615.7(SERPINF1):c.119_120del (p.Val40fs)	LOC130059891, SERPINF1 (V40fs)	Deletion (frameshift variant +1 more)	Osteogenesis imperfecta type 6	GPathogenic
Select item 31853	NM_002615.7(SERPINF1):c.1132C>T (p.Gln378Ter)	SERPINF1 (Q378* +1 more)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 6	GPathogenic
Select item 31852	NM_002615.7(SERPINF1):c.324_325dup (p.Tyr109fs)	SERPINF1 (Y109fs)	Microsatellite (frameshift variant +1 more)	Osteogenesis imperfecta type 6	GPathogenic
Select item 31851	NM_002615.7(SERPINF1):c.696C>G (p.Tyr232Ter)	SERPINF1 (Y232* +1 more)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 6	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 78