ClinVar for MedGen (Select 462239) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 896542	NM_001171506.2(MCFD2):c.-205G>C	LOC129933675, MCFD2	Single nucleotide variant (5 prime UTR variant +1 more)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 895103	NM_139279.6(MCFD2):c.108C>A (p.Pro36=)	MCFD2	Single nucleotide variant (synonymous variant +1 more)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 895102	NM_139279.6(MCFD2):c.138G>A (p.Val46=)	MCFD2	Single nucleotide variant (synonymous variant +1 more)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 895101	NM_139279.6(MCFD2):c.321A>G (p.Glu107=)	MCFD2	Single nucleotide variant (synonymous variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 895100	NM_139279.6(MCFD2):c.363A>G (p.Ile121Met)	MCFD2 (I69M +2 more)	Single nucleotide variant (missense 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 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 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 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 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 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 800824	NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro)	MCFD2 (L16P)	Single nucleotide variant (missense variant +1 more)	Factor 5 and Factor VIII, combined deficiency of, 2	GLikely pathogenic
Select item 336392	NM_001171506.2(MCFD2):c.-189C>G	MCFD2, LOC129933675	Single nucleotide variant (5 prime UTR variant +1 more)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336386	NM_139279.6(MCFD2):c.-34C>A	MCFD2	Single nucleotide variant (5 prime UTR variant +1 more)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336385	NM_139279.6(MCFD2):c.-7+11T>A	MCFD2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 336384	NM_139279.6(MCFD2):c.106C>G (p.Pro36Ala)	MCFD2 (P36A)	Single nucleotide variant (missense variant +1 more)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336383	NM_139279.6(MCFD2):c.236T>C (p.Met79Thr)	MCFD2 (M79T +2 more)	Single nucleotide variant (missense variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336382	NM_139279.6(MCFD2):c.310-11G>C	MCFD2	Single nucleotide variant (intron variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GLikely benign
Select item 336381	NM_139279.6(MCFD2):c.416C>T (p.Ala139Val)	MCFD2 (A139V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 336380	NM_139279.6(MCFD2):c.*62T>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336379	NM_139279.6(MCFD2):c.*64T>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 336378	NM_139279.6(MCFD2):c.*73A>G	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 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 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 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 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 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 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 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 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 336368	NM_139279.6(MCFD2):c.*693G>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
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 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 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 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 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 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 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 336360	NM_139279.6(MCFD2):c.*1267G>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
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 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 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 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 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 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	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 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	GBenign
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	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 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 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 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 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 336344	NM_139279.6(MCFD2):c.*2075C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
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 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 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 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 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 336338	NM_139279.6(MCFD2):c.*2454C>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
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 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	GBenign
Select item 336335	NM_139279.6(MCFD2):c.*2675C>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
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 336332	NM_139279.6(MCFD2):c.*2848C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
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

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