ClinVar for Gene (Select 5176) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382697	NM_002615.7(SERPINF1):c.377T>C (p.Leu126Pro)	SERPINF1 (L126P)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 3362585	NM_002615.7(SERPINF1):c.1118_1119del (p.Pro373fs)	SERPINF1 (P186fs +1 more)	Deletion (frameshift variant)	Osteogenesis imperfecta type 6	GLikely pathogenic
Select item 3339008	NM_002615.7(SERPINF1):c.624C>T (p.Leu208=)	SERPINF1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3317637	NM_002615.7(SERPINF1):c.428T>C (p.Val143Ala)	SERPINF1 (V143A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3317636	NM_002615.7(SERPINF1):c.346C>T (p.Pro116Ser)	SERPINF1 (P116S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3317634	NM_002615.7(SERPINF1):c.379G>A (p.Asp127Asn)	SERPINF1 (D127N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243154	NC_000017.10:g.(?_1670205)_(1675389_?)del	SERPINF1	Deletion	not provided	GPathogenic
Select item 3243152	NC_000017.10:g.(?_1673126)_(1673364_?)del	SERPINF1	Deletion	not provided	GPathogenic
Select item 3243118	NC_000017.10:g.(?_1648982)_(2583634_?)del	DPH1, HIC1 +15 more	Deletion	not provided	GPathogenic
Select item 3242329	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	ABR, BHLHA9 +20 more	Copy number loss	not provided	GUncertain significance
Select item 3160487	NM_002615.7(SERPINF1):c.959G>A (p.Ser320Asn)	SERPINF1 (S320N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160486	NM_002615.7(SERPINF1):c.642G>C (p.Lys214Asn)	SERPINF1 (K27N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160485	NM_002615.7(SERPINF1):c.625G>A (p.Gly209Ser)	SERPINF1 (G209S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3160482	NM_002615.7(SERPINF1):c.1007C>T (p.Ser336Phe)	SERPINF1 (S336F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	not specified	GPathogenic
Select item 3063515	GRCh37/hg19 17p13.3(chr17:1483585-1714805)x3	MIR22, PRPF8 +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063489	GRCh37/hg19 17p13.3(chr17:1139864-1703566)x3	BHLHA9, CRK +15 more	Copy number gain	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3055167	NM_002615.7(SERPINF1):c.1095C>T (p.Asn365=)	SERPINF1	Single nucleotide variant (synonymous variant)	SERPINF1-related disorder	GLikely benign
Select item 3047983	NM_002615.7(SERPINF1):c.1150T>C (p.Phe384Leu)	SERPINF1 (F197L +1 more)	Single nucleotide variant (missense variant)	SERPINF1-related disorder	GUncertain significance
Select item 3046685	NM_002615.7(SERPINF1):c.643+8C>A	SERPINF1	Single nucleotide variant (intron variant)	SERPINF1-related disorder	GLikely benign
Select item 3045085	NM_002615.7(SERPINF1):c.786+10G>T	SERPINF1	Single nucleotide variant (intron variant)	SERPINF1-related disorder	GLikely benign
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 3030455	NM_002615.7(SERPINF1):c.483A>T (p.Ser161=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	SERPINF1-related disorder	GLikely benign
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 3012116	NM_002615.7(SERPINF1):c.633G>A (p.Ala211=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000152	NM_002615.7(SERPINF1):c.907C>A (p.Arg303=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995689	NM_002615.7(SERPINF1):c.1074C>T (p.His358=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976988	NM_002615.7(SERPINF1):c.600C>T (p.Pro200=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976327	NM_002615.7(SERPINF1):c.1032C>T (p.Ser344=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2966061	NM_002615.7(SERPINF1):c.726C>T (p.Pro242=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962179	NM_002615.7(SERPINF1):c.1095C>G (p.Asn365Lys)	SERPINF1 (N178K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957593	NM_002615.7(SERPINF1):c.987G>A (p.Leu329=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957278	NM_002615.7(SERPINF1):c.786+18C>T	SERPINF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915896	NM_002615.7(SERPINF1):c.576C>T (p.Leu192=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894098	NM_002615.7(SERPINF1):c.249C>A (p.Leu83=)	LOC130059892, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2883456	NM_002615.7(SERPINF1):c.357T>C (p.His119=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2833009	NM_002615.7(SERPINF1):c.528C>T (p.Asp176=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2832239	NM_002615.7(SERPINF1):c.604dup (p.Glu202fs)	SERPINF1 (E15fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2801358	NM_002615.7(SERPINF1):c.657A>G (p.Thr219=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800449	NM_002615.7(SERPINF1):c.997+18T>A	SERPINF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770661	NM_002615.7(SERPINF1):c.1125A>G (p.Pro375=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736388	NM_002615.7(SERPINF1):c.283+1G>T	LOC130059892, SERPINF1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2717893	NM_002615.7(SERPINF1):c.738C>T (p.Asp246=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693820	NM_002615.7(SERPINF1):c.759T>C (p.Tyr253=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2685591	GRCh37/hg19 17p13.3(chr17:1225474-2201587)x1	CRK, DPH1 +21 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2629878	NM_002615.7(SERPINF1):c.816_819del (p.Met272fs)	SERPINF1 (M272fs +1 more)	Deletion (frameshift variant)	SERPINF1-related disorder	GLikely pathogenic
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 2595344	NM_002615.7(SERPINF1):c.260C>T (p.Thr87Met)	LOC130059892, SERPINF1 (T87M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 2559112	NM_002615.7(SERPINF1):c.730A>G (p.Met244Val)	SERPINF1 (M244V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2503988	NC_000017.10:g.(1665408_1670196)_(1675370_1678351)del	SERPINF1	Deletion	Osteogenesis imperfecta	GLikely pathogenic
Select item 2500362	NM_002615.7(SERPINF1):c.1171A>C (p.Asn391His)	SERPINF1 (N204H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497939	NM_002615.7(SERPINF1):c.497C>T (p.Pro166Leu)	SERPINF1 (P166L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2482576	NM_002615.7(SERPINF1):c.325T>C (p.Tyr109His)	SERPINF1 (Y109H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476891	NM_002615.7(SERPINF1):c.812G>C (p.Ser271Thr)	SERPINF1 (S271T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	ABR, BHLHA9 +26 more	Deletion	not provided	GPathogenic
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 2430328	NM_002615.7(SERPINF1):c.1052dup (p.Lys352fs)	SERPINF1 (K165fs +1 more)	Duplication (frameshift variant)	See cases	GUncertain significance
Select item 2427917	NM_002615.7(SERPINF1):c.606G>T (p.Glu202Asp)	SERPINF1 (E15D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425641	NC_000017.10:g.(?_422368)_(1680740_?)del	ABR, BHLHA9 +22 more	Deletion	not provided	GUncertain significance
Select item 2425596	NC_000017.10:g.(?_1554096)_(1680740_?)del	MIR22, PRPF8 +4 more	Deletion	not provided	GUncertain significance
Select item 2424501	NC_000017.10:g.(?_1651872)_(1675389_?)del	SERPINF1, SERPINF2	Deletion	not provided	GPathogenic
Select item 2423440	NC_000017.10:g.(?_1645209)_(1731288_?)del	SERPINF1, SERPINF2 +1 more	Deletion	not provided	GPathogenic
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 2420088	NM_002615.7(SERPINF1):c.557C>T (p.Ala186Val)	SERPINF1 (A186V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2413286	NM_002615.7(SERPINF1):c.672A>G (p.Arg224=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2324501	NM_002615.7(SERPINF1):c.689A>G (p.Asp230Gly)	SERPINF1 (D230G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323509	NM_002615.7(SERPINF1):c.1096G>C (p.Glu366Gln)	SERPINF1 (E366Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308593	NM_002615.7(SERPINF1):c.475G>A (p.Glu159Lys)	SERPINF1 (E159K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269814	NM_002615.7(SERPINF1):c.448A>C (p.Ile150Leu)	SERPINF1 (I150L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210946	NM_002615.7(SERPINF1):c.929C>T (p.Ala310Val)	SERPINF1 (A310V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197050	NM_002615.7(SERPINF1):c.458G>T (p.Ser153Ile)	SERPINF1 (S153I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2181641	NM_002615.7(SERPINF1):c.864G>A (p.Leu288=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173815	NM_002615.7(SERPINF1):c.1050C>T (p.Pro350=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164245	NM_002615.7(SERPINF1):c.577G>A (p.Ala193Thr)	SERPINF1 (A193T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2158577	NM_002615.7(SERPINF1):c.901A>G (p.Ile301Val)	SERPINF1 (I301V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155870	NM_002615.7(SERPINF1):c.1230C>G (p.Gly410=)	SERPINF1	Single nucleotide variant (synonymous variant)	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 2144206	NM_002615.7(SERPINF1):c.18A>G (p.Leu6=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2137872	NM_002615.7(SERPINF1):c.498_499del (p.Arg167fs)	SERPINF1 (R167fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2115417	NM_002615.7(SERPINF1):c.45G>C (p.Gly15=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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