MCFD2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933708, LOC129933709 +104 more	Copy number gain	See cases	GUncertain significance
Select item 148501	GRCh38/hg38 2p21(chr2:46592232-47488001)x3	BCYRN1, CALM2 +53 more	Copy number gain	See cases	GLikely benign
Select item 1180436	NC_000002.12:g.46722010_46985532dup	LOC129933679, LOC129933680 +19 more	Duplication	not specified	Gnot provided
Select item 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 894908	NM_001171506.2(MCFD2):c.*3591C>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336325	NM_139279.6(MCFD2):c.*3354A>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336326	NM_139279.6(MCFD2):c.*3318T>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 336327	NM_139279.6(MCFD2):c.*3293A>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 894909	NM_139279.6(MCFD2):c.*3272A>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336328	NM_139279.6(MCFD2):c.*3100C>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2 +1 more	GBenign
Select item 336329	NM_139279.6(MCFD2):c.*3099G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336330	NM_139279.6(MCFD2):c.3072_3073insGG	MCFD2	Insertion (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 336331	NM_139279.6(MCFD2):c.*3014G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 896346	NM_139279.6(MCFD2):c.*2983T>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336332	NM_139279.6(MCFD2):c.*2848C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2 +1 more	GConflicting classifications of pathogenicity
Select item 896347	NM_139279.6(MCFD2):c.*2843T>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336333	NM_139279.6(MCFD2):c.*2789G>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336334	NM_139279.6(MCFD2):c.2780_2781del	MCFD2	Deletion (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 896348	NM_139279.6(MCFD2):c.*2761T>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GLikely benign
Select item 896349	NM_139279.6(MCFD2):c.*2760G>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336335	NM_139279.6(MCFD2):c.*2675C>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 336336	NM_139279.6(MCFD2):c.*2658C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2 +1 more	GBenign
Select item 897962	NM_139279.6(MCFD2):c.*2647A>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 812908	NM_139279.6(MCFD2):c.-6-1668_*2631del	MCFD2	Deletion (stop lost +4 more)	Reduced von Willebrand factor activity +1 more	GLikely pathogenic
Select item 336337	NM_139279.6(MCFD2):c.*2565A>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 897963	NM_139279.6(MCFD2):c.*2556C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336338	NM_139279.6(MCFD2):c.*2454C>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 897964	NM_139279.6(MCFD2):c.*2436G>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 897965	NM_139279.6(MCFD2):c.*2423A>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336339	NM_139279.6(MCFD2):c.*2336A>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 336340	NM_139279.6(MCFD2):c.*2169G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336341	NM_139279.6(MCFD2):c.*2163A>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 336342	NM_139279.6(MCFD2):c.*2141G>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899097	NM_139279.6(MCFD2):c.*2128C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336343	NM_139279.6(MCFD2):c.*2121G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899098	NM_139279.6(MCFD2):c.*2106T>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336344	NM_139279.6(MCFD2):c.*2075C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 899099	NM_139279.6(MCFD2):c.*2056T>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336345	NM_139279.6(MCFD2):c.*2017C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336346	NM_139279.6(MCFD2):c.*1995G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336347	NM_139279.6(MCFD2):c.*1924T>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 336348	NM_139279.6(MCFD2):c.*1908G>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 336349	NM_139279.6(MCFD2):c.*1875T>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 894970	NM_139279.6(MCFD2):c.*1867C>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336350	NM_139279.6(MCFD2):c.*1788C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2 +1 more	GBenign
Select item 336351	NM_139279.6(MCFD2):c.*1752T>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2 +1 more	GBenign
Select item 336352	NM_139279.6(MCFD2):c.*1724C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 336353	NM_139279.6(MCFD2):c.*1677T>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2 +1 more	GBenign
Select item 896406	NM_139279.6(MCFD2):c.*1610A>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 896407	NM_139279.6(MCFD2):c.*1537G>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336354	NM_139279.6(MCFD2):c.*1525C>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 896408	NM_139279.6(MCFD2):c.*1464A>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 896409	NM_139279.6(MCFD2):c.*1448G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336355	NM_139279.6(MCFD2):c.*1415C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 898040	NM_139279.6(MCFD2):c.*1407C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GLikely benign
Select item 336356	NM_139279.6(MCFD2):c.*1354G>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336357	NM_139279.6(MCFD2):c.*1346G>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 898041	NM_139279.6(MCFD2):c.*1316G>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336358	NM_139279.6(MCFD2):c.*1314C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336359	NM_139279.6(MCFD2):c.*1289T>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 336360	NM_139279.6(MCFD2):c.*1267G>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 899154	NM_139279.6(MCFD2):c.*1187C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336361	NM_139279.6(MCFD2):c.*1158C>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899155	NM_139279.6(MCFD2):c.*1151G>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899156	NM_139279.6(MCFD2):c.*1124G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 336362	NM_139279.6(MCFD2):c.*1111G>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899157	NM_139279.6(MCFD2):c.*1079C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899158	NM_139279.6(MCFD2):c.*1059C>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336363	NM_139279.6(MCFD2):c.*1043G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 336364	NM_139279.6(MCFD2):c.*1042C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 895033	NM_139279.6(MCFD2):c.*1024C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336365	NM_139279.6(MCFD2):c.*1010G>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 895034	NM_139279.6(MCFD2):c.*991G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336366	NM_139279.6(MCFD2):c.*912C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336367	NM_139279.6(MCFD2):c.*892G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 895035	NM_139279.6(MCFD2):c.*751G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336368	NM_139279.6(MCFD2):c.*693G>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 896471	NM_139279.6(MCFD2):c.*648C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 896472	NM_139279.6(MCFD2):c.*640C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 896473	NM_139279.6(MCFD2):c.*632T>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336369	NM_139279.6(MCFD2):c.*569G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GLikely benign
Select item 336370	NM_139279.6(MCFD2):c.*557G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GLikely benign
Select item 896474	NM_139279.6(MCFD2):c.*529G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336371	NM_139279.6(MCFD2):c.*517C>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336372	NM_139279.6(MCFD2):c.*498A>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 898098	NM_139279.6(MCFD2):c.*445A>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336373	NM_139279.6(MCFD2):c.*428G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 898099	NM_139279.6(MCFD2):c.*422T>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 898100	NM_139279.6(MCFD2):c.*418C>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 898101	NM_139279.6(MCFD2):c.*375T>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 898102	NM_139279.6(MCFD2):c.*354C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GLikely benign
Select item 336374	NM_139279.6(MCFD2):c.*311G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 898103	NM_139279.6(MCFD2):c.*217T>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336375	NM_139279.6(MCFD2):c.*173G>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336376	NM_139279.6(MCFD2):c.*133A>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2 +1 more	GBenign
Select item 336377	NM_139279.6(MCFD2):c.*84T>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899218	NM_139279.6(MCFD2):c.*79A>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance

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