SERPINF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	SERPINF2, SLC43A2 +134 more	Copy number gain	See cases	GPathogenic
Select item 57165	GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1	ABR, ABR-AS1 +119 more	Copy number loss	See cases	GPathogenic
Select item 932228	GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3	SERPINF1, SERPINF2 +53 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 146016	GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3	ABR, BHLHA9 +51 more	Copy number gain	See cases	GPathogenic
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	LOC130059912, LOC130059913 +114 more	Copy number gain	See cases	GLikely pathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 149147	GRCh38/hg38 17p13.3(chr17:1742705-2952264)x1	CCDC92B, CLUH +122 more	Copy number loss	See cases	GPathogenic
Select item 321996	NM_002615.6(SERPINF1):c.-154C>T	SERPINF1	Single nucleotide variant	Osteogenesis Imperfecta, Recessive	GUncertain significance
Select item 321997	NM_002615.6(SERPINF1):c.-86C>A	SERPINF1	Single nucleotide variant	Osteogenesis Imperfecta, Recessive +2 more	GBenign/Likely benign
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 41893	NM_002615.7(SERPINF1):c.-9+2dup	SERPINF1	Duplication (splice donor variant)	Osteogenesis imperfecta type 6	GPathogenic
Select item 1702058	NM_002615.7(SERPINF1):c.-9+6G>A	SERPINF1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta	GUncertain significance
Select item 516196	NM_002615.7(SERPINF1):c.-9+17G>A	SERPINF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1259367	NM_002615.7(SERPINF1):c.-9+196G>A	SERPINF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213484	NM_002615.7(SERPINF1):c.-8-254del	SERPINF1	Deletion (intron variant)	not provided	GLikely benign
Select item 1194480	NM_002615.7(SERPINF1):c.-8-167G>T	SERPINF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1925593	NM_002615.7(SERPINF1):c.6G>A (p.Gln2=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 890646	NM_002615.7(SERPINF1):c.15G>T (p.Val5=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta +2 more	GConflicting classifications of pathogenicity
Select item 2144206	NM_002615.7(SERPINF1):c.18A>G (p.Leu6=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2144209	NM_002615.7(SERPINF1):c.21C>A (p.Leu7=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3160483	NM_002615.7(SERPINF1):c.29T>A (p.Ile10Asn)	SERPINF1 (I10N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1397364	NM_002615.7(SERPINF1):c.29T>C (p.Ile10Thr)	SERPINF1 (I10T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 890647	NM_002615.7(SERPINF1):c.42C>T (p.Leu14=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1436889	NM_002615.7(SERPINF1):c.43G>A (p.Gly15Arg)	SERPINF1 (G15R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2115417	NM_002615.7(SERPINF1):c.45G>C (p.Gly15=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1353798	NM_002615.7(SERPINF1):c.62A>C (p.Asn21Thr)	SERPINF1 (N21T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1965603	NM_002615.7(SERPINF1):c.71G>A (p.Ser24Asn)	SERPINF1 (S24N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1635907	NM_002615.7(SERPINF1):c.72C>T (p.Ser24=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2526991	NM_002615.7(SERPINF1):c.73C>A (p.Pro25Thr)	SERPINF1 (P25T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3030969	NM_002615.7(SERPINF1):c.77C>G (p.Pro26Arg)	SERPINF1 (P26R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026175	NM_002615.7(SERPINF1):c.78G>A (p.Pro26=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2064434	NM_002615.7(SERPINF1):c.83_84+1del	SERPINF1	Microsatellite (splice donor variant +1 more)	not provided	GUncertain significance
Select item 1354977	NM_002615.7(SERPINF1):c.83A>C (p.Glu28Ala)	SERPINF1 (E28A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1615450	NM_002615.7(SERPINF1):c.84+13G>A	SERPINF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909320	NM_002615.7(SERPINF1):c.84+14C>T	SERPINF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665650	NM_002615.7(SERPINF1):c.84+15G>A	SERPINF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242091	NM_002615.7(SERPINF1):c.84+40G>A	SERPINF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297831	NM_002615.7(SERPINF1):c.84+211A>C	SERPINF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204962	NM_002615.7(SERPINF1):c.85-215dup	SERPINF1	Duplication (intron variant)	not provided	GLikely benign
Select item 674942	NM_002615.7(SERPINF1):c.85-42G>A	SERPINF1	Single nucleotide variant (intron variant)	not provided	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 321998	NM_002615.7(SERPINF1):c.85-14C>T	SERPINF1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1672355	NM_002615.7(SERPINF1):c.85-13T>G	SERPINF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602928	NM_002615.7(SERPINF1):c.99C>T (p.Pro33=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1409206	NM_002615.7(SERPINF1):c.100G>A (p.Asp34Asn)	LOC130059891, SERPINF1 (D34N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2974484	NM_002615.7(SERPINF1):c.111G>A (p.Gly37=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1349154	NM_002615.7(SERPINF1):c.113C>T (p.Ala38Val)	LOC130059891, SERPINF1 (A38V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 321999	NM_002615.7(SERPINF1):c.134C>T (p.Pro45Leu)	LOC130059891, SERPINF1 (P45L)	Single nucleotide variant (missense variant +1 more)	Osteogenesis Imperfecta, Recessive	GUncertain significance
Select item 2421568	NM_002615.7(SERPINF1):c.150C>T (p.Pro50=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 732208	NM_002615.7(SERPINF1):c.151G>A (p.Val51Met)	SERPINF1, LOC130059891 (V51M)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6 +2 more	GBenign
Select item 2086718	NM_002615.7(SERPINF1):c.153G>A (p.Val51=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1702051	NM_002615.7(SERPINF1):c.156C>T (p.Asn52=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta	GUncertain significance
Select item 755845	NM_002615.7(SERPINF1):c.165A>T (p.Ala55=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 890648	NM_002615.7(SERPINF1):c.167C>G (p.Ala56Gly)	LOC130059891, SERPINF1 (A56G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1589724	NM_002615.7(SERPINF1):c.168G>A (p.Ala56=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971055	NM_002615.7(SERPINF1):c.172_236del (p.Val58fs)	SERPINF1, LOC130059891 +1 more (V58fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1548631	NM_002615.7(SERPINF1):c.183C>T (p.Phe61=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1400665	NM_002615.7(SERPINF1):c.193C>A (p.Leu65Met)	LOC130059891, SERPINF1 (L65M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413177	NM_002615.7(SERPINF1):c.194T>C (p.Leu65Pro)	LOC130059891, SERPINF1 (L65P)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 289666	NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)	LOC130059891, SERPINF1 (V68L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1180675	NM_002615.7(SERPINF1):c.205C>T (p.Arg69Ter)	LOC130059891, SERPINF1 (R69*)	Single nucleotide variant (nonsense +1 more)	Abnormality of the skeletal system	GLikely pathogenic
Select item 1934859	NM_002615.7(SERPINF1):c.206G>A (p.Arg69Gln)	SERPINF1, LOC130059891 (R69Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 322000	NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met)	SERPINF1 (T72M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
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 1505700	NM_002615.7(SERPINF1):c.224C>T (p.Thr75Met)	SERPINF1 (T75M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1586952	NM_002615.7(SERPINF1):c.225G>C (p.Thr75=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 721861	NM_002615.7(SERPINF1):c.225G>A (p.Thr75=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1643517	NM_002615.7(SERPINF1):c.231C>T (p.Asn77=)	LOC130059892, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2418208	NM_002615.7(SERPINF1):c.232G>A (p.Val78Met)	LOC130059892, SERPINF1 (V78M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1312881	NM_002615.7(SERPINF1):c.236T>C (p.Leu79Pro)	LOC130059892, SERPINF1 (L79P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1569949	NM_002615.7(SERPINF1):c.238C>T (p.Leu80=)	LOC130059892, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 218613	NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)	LOC130059892, SERPINF1 (S81C)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity

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