ClinVar for MedGen (Select 462561) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585085	NM_001235.5(SERPINH1):c.1244G>A (p.Arg415Gln)	SERPINH1 (R415Q +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 2435817	NM_001235.5(SERPINH1):c.119C>T (p.Ala40Val)	SERPINH1 (A39V +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 2435816	NM_001235.5(SERPINH1):c.1020G>A (p.Met340Ile)	SERPINH1 (M339I +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 1289662	NM_001235.5(SERPINH1):c.622+25TCC[6]	SERPINH1	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 883897	NM_001235.5(SERPINH1):c.839G>A (p.Arg280His)	SERPINH1 (R280H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 883184	NM_001235.5(SERPINH1):c.*668A>G	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 883183	NM_001235.5(SERPINH1):c.*536C>A	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 883119	NM_001235.5(SERPINH1):c.588C>T (p.Asp196=)	SERPINH1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 882025	NM_001235.5(SERPINH1):c.*153G>A	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 882024	NM_001235.5(SERPINH1):c.*117G>A	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GLikely benign
Select item 882023	NM_001235.5(SERPINH1):c.*74G>A	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 881942	NM_001235.5(SERPINH1):c.339G>C (p.Glu113Asp)	SERPINH1 (E113D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 880607	NM_001235.5(SERPINH1):c.*73G>T	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 880606	NM_001235.5(SERPINH1):c.1178G>A (p.Arg393Gln)	SERPINH1 (R393Q)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 880605	NM_001235.5(SERPINH1):c.1152C>T (p.Ala384=)	SERPINH1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 10 +1 more	GConflicting classifications of pathogenicity
Select item 880604	NM_001235.5(SERPINH1):c.1059C>T (p.His353=)	SERPINH1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 10 +1 more	GConflicting classifications of pathogenicity
Select item 880603	NM_001235.5(SERPINH1):c.1042C>T (p.Leu348=)	SERPINH1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 880528	NM_001235.5(SERPINH1):c.139A>G (p.Ser47Gly)	SERPINH1 (S47G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 880527	NM_001235.5(SERPINH1):c.58G>A (p.Glu20Lys)	SERPINH1 (E20K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 732927	NM_001235.5(SERPINH1):c.160T>C (p.Leu54=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 717684	NM_001235.5(SERPINH1):c.1119C>T (p.Arg373=)	SERPINH1	Single nucleotide variant (synonymous variant)	SERPINH1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 631665	NM_001235.5(SERPINH1):c.918del (p.Leu306fs)	SERPINH1 (L306fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 599349	NM_001235.5(SERPINH1):c.1233dup (p.Asp412Ter)	SERPINH1 (D412*)	Duplication (nonsense)	Osteogenesis imperfecta type 10	GPathogenic
Select item 599217	NC_000011.10:g.75554407_75559680del	LOC110121439, LOC116216154 +2 more	Deletion	Osteogenesis imperfecta type 10	GPathogenic
Select item 545689	NM_001235.5(SERPINH1):c.1214G>A (p.Arg405His)	SERPINH1 (R405H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 440263	NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala)	SERPINH1 (T189A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10 +1 more	GConflicting classifications of pathogenicity
Select item 306125	NM_001235.5(SERPINH1):c.*668A>T	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GLikely benign
Select item 306124	NM_001235.5(SERPINH1):c.*580T>G	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GBenign
Select item 306123	NM_001235.5(SERPINH1):c.*556G>A	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 306122	NM_001235.5(SERPINH1):c.*531C>G	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 306121	NM_001235.5(SERPINH1):c.*525C>A	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GBenign
Select item 306120	NM_001235.5(SERPINH1):c.*511G>A	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 306119	NM_001235.5(SERPINH1):c.*490G>A	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GBenign
Select item 306118	NM_001235.5(SERPINH1):c.*354G>T	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 306117	NM_001235.5(SERPINH1):c.*228A>G	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 306116	NM_001235.5(SERPINH1):c.*179A>G	SERPINH1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 306115	NM_001235.5(SERPINH1):c.*125A>G	SERPINH1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 306114	NM_001235.5(SERPINH1):c.*4C>G	SERPINH1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 306113	NM_001235.5(SERPINH1):c.1208T>C (p.Ile403Thr)	SERPINH1 (I403T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 306112	NM_001235.5(SERPINH1):c.1016G>A (p.Arg339His)	SERPINH1 (R339H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 306111	NM_001235.5(SERPINH1):c.1011G>A (p.Leu337=)	SERPINH1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 10 +2 more	GBenign
Select item 306110	NM_001235.5(SERPINH1):c.955-6C>A	SERPINH1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 10 +3 more	GBenign
Select item 306109	NM_001235.5(SERPINH1):c.823G>A (p.Val275Met)	SERPINH1 (V275M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 306108	NM_001235.5(SERPINH1):c.807C>T (p.Ile269=)	SERPINH1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 306107	NM_001235.5(SERPINH1):c.693C>T (p.Thr231=)	SERPINH1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 10 +2 more	GBenign
Select item 306106	NM_001235.5(SERPINH1):c.600A>C (p.Leu200=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306105	NM_001235.5(SERPINH1):c.598C>T (p.Leu200=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 306104	NM_001235.5(SERPINH1):c.573C>A (p.Asp191Glu)	SERPINH1 (D191E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10 +2 more	GUncertain significance
Select item 306103	NM_001235.5(SERPINH1):c.492C>T (p.Arg164=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306102	NM_001235.5(SERPINH1):c.486C>G (p.Asn162Lys)	SERPINH1 (N162K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 306101	NM_001235.5(SERPINH1):c.481A>C (p.Ile161Leu)	SERPINH1 (I161L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 306100	NM_001235.5(SERPINH1):c.480G>C (p.Lys160Asn)	SERPINH1 (K160N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 306098	NM_001235.5(SERPINH1):c.336C>T (p.Gly112=)	SERPINH1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 10 +1 more	GUncertain significance
Select item 306097	NM_001235.5(SERPINH1):c.298G>A (p.Glu100Lys)	SERPINH1 (E100K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10 +1 more	GConflicting classifications of pathogenicity
Select item 306096	NM_001235.5(SERPINH1):c.-19C>T	SERPINH1	Single nucleotide variant (5 prime UTR variant)	Osteogenesis imperfecta type 10 +1 more	GBenign
Select item 306095	NM_001235.5(SERPINH1):c.-73G>A	SERPINH1	Single nucleotide variant (5 prime UTR variant)	Osteogenesis imperfecta type 10	GBenign
Select item 306094	NM_001235.3(SERPINH1):c.-185T>C	SERPINH1	Single nucleotide variant	Osteogenesis imperfecta type 10	GUncertain significance
Select item 306093	NM_001235.3(SERPINH1):c.-189G>A	SERPINH1	Single nucleotide variant	Osteogenesis imperfecta type 10	GBenign
Select item 306092	NM_001235.3(SERPINH1):c.-191A>G	SERPINH1	Single nucleotide variant	Osteogenesis imperfecta type 10	GUncertain significance
Select item 306091	NM_001235.3(SERPINH1):c.-211G>A	SERPINH1	Single nucleotide variant	Osteogenesis imperfecta type 10	GUncertain significance
Select item 290775	NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala)	SERPINH1 (G31A)	Single nucleotide variant (missense variant)	SERPINH1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 287158	NM_001235.5(SERPINH1):c.267G>A (p.Thr89=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 265865	NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr)	SERPINH1 (M237T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197191	NM_001235.5(SERPINH1):c.744C>T (p.Asp248=)	SERPINH1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 196324	NM_001235.5(SERPINH1):c.721+9T>C	SERPINH1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 195143	NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser)	SERPINH1 (R194S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10 +3 more	GConflicting classifications of pathogenicity
Select item 195141	NM_001235.5(SERPINH1):c.234A>G (p.Leu78=)	SERPINH1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 195140	NM_001235.5(SERPINH1):c.363C>G (p.Ser121=)	SERPINH1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 30141	NM_001235.5(SERPINH1):c.233T>C (p.Leu78Pro)	SERPINH1 (L78P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GPathogenic

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Links from MedGen

Items: 69