ClinVar for MedGen (Select 376381) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335889	NM_000821.7(GGCX):c.1426C>G (p.Arg476Gly)	GGCX (R476G +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely pathogenic
Select item 1679656	NM_000821.7(GGCX):c.973dup (p.Arg325fs)	GGCX (R268fs +1 more)	Duplication (frameshift variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely pathogenic
Select item 992374	NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter)	GGCX (Q606* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 992373	NM_000821.7(GGCX):c.773G>A (p.Gly258Asp)	GGCX (G201D +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely pathogenic
Select item 988875	NM_000821.7(GGCX):c.1217G>A (p.Arg406His)	GGCX (R349H +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency +2 more	GUncertain significance
Select item 899226	NM_000821.7(GGCX):c.614G>A (p.Gly205Asp)	GGCX (G148D +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899225	NM_000821.7(GGCX):c.654G>A (p.Lys218=)	GGCX	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 899224	NM_000821.7(GGCX):c.745C>T (p.Leu249=)	GGCX	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 899167	NM_000821.7(GGCX):c.1815C>G (p.Asn605Lys)	GGCX (N605K +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899166	NM_000821.7(GGCX):c.1994G>A (p.Arg665Lys)	GGCX (R608K +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899165	NM_000821.7(GGCX):c.2119A>C (p.Ile707Leu)	GGCX (I707L +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899164	NM_000821.7(GGCX):c.2254G>C (p.Asp752His)	GGCX (D695H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 899107	NM_000821.7(GGCX):c.*962G>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely benign
Select item 899106	NM_000821.7(GGCX):c.*973A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899105	NM_000821.7(GGCX):c.*1037A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899104	NM_000821.7(GGCX):c.*1145G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899044	NM_000821.7(GGCX):c.*2490T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899043	NM_000821.7(GGCX):c.*2716A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899042	NM_000821.7(GGCX):c.*2740A>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899041	NM_000821.7(GGCX):c.*2774A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899040	NM_000821.7(GGCX):c.*2811T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely benign
Select item 898977	NM_000821.7(GGCX):c.*3703C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898976	NM_000821.7(GGCX):c.*3756A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898975	NM_000821.7(GGCX):c.*3770T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898974	NM_000821.7(GGCX):c.*3841T>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898901	NM_000821.7(GGCX):c.*4798G>A	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898900	NM_000821.7(GGCX):c.*4840T>C	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 898899	NM_000821.7(GGCX):c.*4848C>T	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898175	NM_000821.7(GGCX):c.-46C>G	GGCX, LOC129934217	Single nucleotide variant (5 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898111	NM_000821.7(GGCX):c.903C>T (p.Tyr301=)	GGCX	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898110	NM_000821.7(GGCX):c.990G>C (p.Leu330=)	GGCX	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 898109	NM_000821.7(GGCX):c.994C>A (p.Pro332Thr)	GGCX (P275T +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898108	NM_000821.7(GGCX):c.1008C>T (p.Ala336=)	GGCX	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898107	NM_000821.7(GGCX):c.1046G>C (p.Arg349Pro)	GGCX (R292P +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898046	NM_000821.7(GGCX):c.*91G>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898045	NM_000821.7(GGCX):c.*199A>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 897976	NM_000821.7(GGCX):c.*1277G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely benign
Select item 897975	NM_000821.7(GGCX):c.*1324T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 897974	NM_000821.7(GGCX):c.*1367C>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 897973	NM_000821.7(GGCX):c.*1604G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 897972	NM_000821.7(GGCX):c.*1686C>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 897906	NM_000821.7(GGCX):c.*2892A>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 897905	NM_000821.7(GGCX):c.*2965C>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 897904	NM_000821.7(GGCX):c.*3000A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 897823	NM_000821.7(GGCX):c.*3930T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 897822	NM_000821.7(GGCX):c.*4078G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896547	NM_000821.7(GGCX):c.15C>T (p.Ala5=)	GGCX	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +1 more	GBenign/Likely benign
Select item 896546	NM_000821.7(GGCX):c.26G>A (p.Arg9Gln)	GGCX (R9Q)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +1 more	GUncertain significance
Select item 896545	NM_000821.7(GGCX):c.57A>T (p.Lys19Asn)	GGCX (K19N)	Single nucleotide variant (missense variant +1 more)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896544	NM_000821.7(GGCX):c.91G>A (p.Asp31Asn)	GGCX (D31N)	Single nucleotide variant (missense variant +1 more)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +1 more	GBenign
Select item 896486	NM_000821.7(GGCX):c.1155+12C>A	GGCX	Single nucleotide variant (intron variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 896485	NM_000821.7(GGCX):c.1224C>A (p.His408Gln)	GGCX (H351Q +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +1 more	GUncertain significance
Select item 896484	NM_000821.7(GGCX):c.1249G>A (p.Asp417Asn)	GGCX (D360N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 896483	NM_000821.7(GGCX):c.1299G>C (p.Gln433His)	GGCX (Q433H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 896482	NM_000821.7(GGCX):c.1355G>C (p.Ser452Thr)	GGCX (S452T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 896481	NM_000821.7(GGCX):c.1378G>A (p.Val460Ile)	GGCX (V403I +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +1 more	GLikely benign
Select item 896416	NM_000821.7(GGCX):c.*285G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896415	NM_000821.7(GGCX):c.*338T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896414	NM_000821.7(GGCX):c.*417G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896413	NM_000821.7(GGCX):c.*454C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896361	NM_000821.7(GGCX):c.*1712A>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896360	NM_000821.7(GGCX):c.*1725C>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896359	NM_000821.7(GGCX):c.*1727A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896358	NM_000821.7(GGCX):c.*1727A>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 896289	NM_000821.7(GGCX):c.*3067T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely benign
Select item 896288	NM_000821.7(GGCX):c.*3177T>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896287	NM_000821.7(GGCX):c.*3192C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896286	NM_000821.7(GGCX):c.*3269A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896285	NM_000821.7(GGCX):c.*3393C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896222	NM_000821.7(GGCX):c.*4195T>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896221	NM_000821.7(GGCX):c.*4242C>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896220	NM_000821.7(GGCX):c.*4366C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896219	NM_000821.7(GGCX):c.*4397G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896218	NM_000821.7(GGCX):c.*4413T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 895939	NM_000821.7(GGCX):c.*4475T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 895938	NM_000821.7(GGCX):c.*4681G>A	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 895937	NM_000821.7(GGCX):c.*4720G>A	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 895111	NM_000821.7(GGCX):c.269G>A (p.Arg90Gln)	GGCX (R33Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 895110	NM_000821.7(GGCX):c.271A>C (p.Lys91Gln)	GGCX (K34Q +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 895109	NM_000821.7(GGCX):c.540-8C>T	GGCX	Single nucleotide variant (intron variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 895044	NM_000821.7(GGCX):c.1439+15C>T	GGCX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895043	NM_000821.7(GGCX):c.1453C>T (p.Arg485Cys)	GGCX (R428C +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 895042	NM_000821.7(GGCX):c.1455T>C (p.Arg485=)	GGCX	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 895041	NM_000821.7(GGCX):c.1485C>T (p.Pro495=)	GGCX	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 895040	NM_000821.7(GGCX):c.1743G>A (p.Leu581=)	GGCX	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 894974	NM_000821.7(GGCX):c.*680G>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely benign
Select item 894973	NM_000821.7(GGCX):c.*703C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 894914	NM_000821.7(GGCX):c.*2226C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 894846	NM_000821.7(GGCX):c.*3581C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 894845	NM_000821.7(GGCX):c.*3584C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 773484	NM_000821.7(GGCX):c.582C>T (p.His194=)	GGCX	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 632367	NM_000821.7(GGCX):c.1140dup (p.His381fs)	GGCX (H381fs +1 more)	Duplication (frameshift variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337284	NM_000821.7(GGCX):c.-53C>T	GGCX, LOC129934217	Single nucleotide variant (5 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337283	NM_000821.7(GGCX):c.-46C>T	GGCX, LOC129934217	Single nucleotide variant (5 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337282	NM_000821.7(GGCX):c.-23C>T	GGCX	Single nucleotide variant (5 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337281	NM_000821.7(GGCX):c.24G>A (p.Ala8=)	GGCX	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337280	NM_000821.7(GGCX):c.68A>G (p.Glu23Gly)	GGCX (E23G)	Single nucleotide variant (missense variant +1 more)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337279	NM_000821.7(GGCX):c.137C>T (p.Ser46Phe)	GGCX (S46F)	Single nucleotide variant (missense variant +1 more)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337278	NM_000821.7(GGCX):c.159C>A (p.Thr53=)	GGCX	Single nucleotide variant (synonymous variant +1 more)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 337277	NM_000821.7(GGCX):c.189C>T (p.Ser63=)	GGCX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign

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