ClinVar for MedGen (Select 1637212) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802256	NM_005570.4(LMAN1):c.349C>T (p.Arg117Ter)	LMAN1 (R117*)	Single nucleotide variant (nonsense)	Factor V and factor VIII, combined deficiency of, type 1	GPathogenic
Select item 891805	NM_005570.4(LMAN1):c.463G>C (p.Asp155His)	LMAN1 (D155H)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891804	NM_005570.4(LMAN1):c.477+10T>C	LMAN1	Single nucleotide variant (intron variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891803	NM_005570.4(LMAN1):c.512A>G (p.Asn171Ser)	LMAN1 (N171S)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891802	NM_005570.4(LMAN1):c.597T>C (p.Tyr199=)	LMAN1	Single nucleotide variant (synonymous variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891801	NM_005570.4(LMAN1):c.638C>T (p.Thr213Ile)	LMAN1 (T213I)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891735	NM_005570.4(LMAN1):c.*416C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891734	NM_005570.4(LMAN1):c.*480A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891733	NM_005570.4(LMAN1):c.*492T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891732	NM_005570.4(LMAN1):c.*571T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891731	NM_005570.4(LMAN1):c.*652T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891730	NM_005570.4(LMAN1):c.*753T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891658	NM_005570.4(LMAN1):c.*2021A>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891657	NM_005570.4(LMAN1):c.*2099C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891656	NM_005570.4(LMAN1):c.*2184A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GBenign
Select item 891655	NM_005570.4(LMAN1):c.*2359A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891546	NM_005570.4(LMAN1):c.775G>A (p.Val259Ile)	LMAN1 (V259I)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891545	NM_005570.4(LMAN1):c.936C>T (p.Pro312=)	LMAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 891544	NM_005570.4(LMAN1):c.957G>A (p.Ala319=)	LMAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 891480	NM_005570.4(LMAN1):c.*763T>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891479	NM_005570.4(LMAN1):c.*794A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891478	NM_005570.4(LMAN1):c.*860T>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GLikely benign
Select item 891477	NM_005570.4(LMAN1):c.*1164A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891476	NM_005570.4(LMAN1):c.*1271A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891410	NM_005570.4(LMAN1):c.*2541T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891409	NM_005570.4(LMAN1):c.*2637T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891408	NM_005570.4(LMAN1):c.*2670G>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889988	NM_005570.4(LMAN1):c.1310T>C (p.Ile437Thr)	LMAN1 (I437T)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889987	NM_005570.4(LMAN1):c.1391C>G (p.Pro464Arg)	LMAN1 (P464R)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1 +1 more	GUncertain significance
Select item 889986	NM_005570.4(LMAN1):c.1411C>T (p.Pro471Ser)	LMAN1 (P471S)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889985	NM_005570.4(LMAN1):c.1412C>T (p.Pro471Leu)	LMAN1 (P471L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 889984	NM_005570.4(LMAN1):c.1434G>A (p.Thr478=)	LMAN1	Single nucleotide variant (synonymous variant)	Factor V and factor VIII, combined deficiency of, type 1 +1 more	GUncertain significance
Select item 889925	NM_005570.4(LMAN1):c.*1300C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889924	NM_005570.4(LMAN1):c.*1390T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889923	NM_005570.4(LMAN1):c.*1493A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GBenign
Select item 889922	NM_005570.4(LMAN1):c.*1556C>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889362	NM_005570.4(LMAN1):c.106G>C (p.Asp36His)	LMAN1, LOC130062607 (D36H)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889361	NM_005570.4(LMAN1):c.169C>G (p.Leu57Val)	LMAN1, LOC130062607 (L57V)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889306	NM_005570.4(LMAN1):c.1527C>A (p.Phe509Leu)	LMAN1 (F509L)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889305	NM_005570.4(LMAN1):c.*21T>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889304	NM_005570.4(LMAN1):c.*185A>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889303	NM_005570.4(LMAN1):c.*210G>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889302	NM_005570.4(LMAN1):c.*319A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889248	NM_005570.4(LMAN1):c.*1631A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889247	NM_005570.4(LMAN1):c.*1862A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889246	NM_005570.4(LMAN1):c.*1921T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GLikely benign
Select item 800356	NM_005570.4(LMAN1):c.1178T>C (p.Val393Ala)	LMAN1 (V393A)	Single nucleotide variant (missense variant)	Factor V deficiency +2 more	GUncertain significance
Select item 627401	NM_005570.4(LMAN1):c.904A>T (p.Lys302Ter)	LMAN1 (K302*)	Single nucleotide variant (nonsense)	Factor V and factor VIII, combined deficiency of, type 1	GLikely pathogenic
Select item 627205	NM_139279.6(MCFD2):c.379_380dup (p.Asp127fs)	MCFD2 (D108fs +2 more)	Microsatellite (frameshift variant)	Factor V and factor VIII, combined deficiency of, type 1	GLikely pathogenic
Select item 336393	NM_001171506.2(MCFD2):c.-198_-190del	MCFD2, LOC129933675	Deletion (5 prime UTR variant +1 more)	Factor V and factor VIII, combined deficiency of, type 1	GBenign
Select item 336391	NM_001171506.2(MCFD2):c.-189del	LOC129933675, MCFD2	Deletion (5 prime UTR variant +1 more)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 336390	NM_001171506.2(MCFD2):c.-189_-186del	LOC129933675, MCFD2	Deletion (5 prime UTR variant +1 more)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 336389	NM_139279.6(MCFD2):c.-90del	LOC129933675, MCFD2	Deletion (5 prime UTR variant +1 more)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 336388	NM_001171506.2(MCFD2):c.-185_-183del	MCFD2, LOC129933675	Deletion (5 prime UTR variant +1 more)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 336387	NM_001171506.2(MCFD2):c.-184_-183del	LOC129933675, MCFD2	Deletion (5 prime UTR variant +1 more)	Factor V and factor VIII, combined deficiency of, type 1	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 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 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 327581	NM_005570.4(LMAN1):c.-5C>T	LMAN1	Single nucleotide variant (5 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327580	NM_005570.4(LMAN1):c.27C>G (p.Leu9=)	LMAN1, LOC130062607	Single nucleotide variant (synonymous variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327579	NM_005570.4(LMAN1):c.41G>A (p.Arg14Gln)	LMAN1, LOC130062607 (R14Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 327578	NM_005570.4(LMAN1):c.214+7C>T	LMAN1	Single nucleotide variant (intron variant)	Factor V and factor VIII, combined deficiency of, type 1	GLikely benign
Select item 327577	NM_005570.4(LMAN1):c.478-15T>C	LMAN1	Single nucleotide variant (intron variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327576	NM_005570.4(LMAN1):c.539+3A>G	LMAN1	Single nucleotide variant (intron variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327575	NM_005570.4(LMAN1):c.540T>G (p.Asn180Lys)	LMAN1 (N180K)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327574	NM_005570.4(LMAN1):c.663A>G (p.Thr221=)	LMAN1	Single nucleotide variant (synonymous variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327573	NM_005570.4(LMAN1):c.821C>T (p.Pro274Leu)	LMAN1 (P274L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 327572	NM_005570.4(LMAN1):c.846G>A (p.Ser282=)	LMAN1	Single nucleotide variant (synonymous variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327571	NM_005570.4(LMAN1):c.1050G>T (p.Arg350=)	LMAN1	Single nucleotide variant (synonymous variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327570	NM_005570.4(LMAN1):c.1221-4T>C	LMAN1	Single nucleotide variant (intron variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327569	NM_005570.4(LMAN1):c.1319A>G (p.Lys440Arg)	LMAN1 (K440R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 327568	NM_005570.4(LMAN1):c.1392G>A (p.Pro464=)	LMAN1	Single nucleotide variant (synonymous variant)	Factor V and factor VIII, combined deficiency of, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 327567	NM_005570.4(LMAN1):c.*48G>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327566	NM_005570.4(LMAN1):c.*57G>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 327565	NM_005570.4(LMAN1):c.*164A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 327564	NM_005570.4(LMAN1):c.*424T>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327563	NM_005570.4(LMAN1):c.*490C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GBenign
Select item 327562	NM_005570.4(LMAN1):c.*939C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327561	NM_005570.4(LMAN1):c.*1168C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327560	NM_005570.4(LMAN1):c.*1298A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327559	NM_005570.4(LMAN1):c.*1305A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327558	NM_005570.4(LMAN1):c.*1332C>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327557	NM_005570.4(LMAN1):c.*1390T>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327556	NM_005570.4(LMAN1):c.1452_1455del	LMAN1	Deletion (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327555	NM_005570.4(LMAN1):c.*1565C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327554	NM_005570.4(LMAN1):c.*1616A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327553	NM_005570.4(LMAN1):c.*1799A>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 327552	NM_005570.4(LMAN1):c.*1822G>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GBenign
Select item 327551	NM_005570.4(LMAN1):c.*1970T>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327550	NM_005570.4(LMAN1):c.*1988C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327549	NM_005570.4(LMAN1):c.*2044A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327548	NM_005570.4(LMAN1):c.*2063C>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 327547	NM_005570.4(LMAN1):c.*2217G>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 327546	NM_005570.4(LMAN1):c.*2259A>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327545	NM_005570.4(LMAN1):c.*2387A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 327544	NM_005570.4(LMAN1):c.*2405C>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 327543	NM_005570.4(LMAN1):c.*2602G>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327542	NM_005570.4(LMAN1):c.*2650G>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327541	NM_005570.4(LMAN1):c.*2893G>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327540	NM_005570.4(LMAN1):c.*2923C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance

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