C2750481[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 294565	NM_001994.3(F13B):c.*162C>A	F13B	Single nucleotide variant (3 prime UTR variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 294566	NM_001994.3(F13B):c.*143G>A	F13B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294567	NM_001994.3(F13B):c.*89G>C	F13B	Single nucleotide variant (3 prime UTR variant)	Factor XIII, b subunit, deficiency of	GLikely benign
Select item 294568	NM_001994.3(F13B):c.1961C>T (p.Ser654Phe)	F13B (S654F)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 875613	NM_001994.3(F13B):c.1935A>T (p.Arg645Ser)	F13B (R645S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 294569	NM_001994.3(F13B):c.1902G>A (p.Met634Ile)	F13B (M634I)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 875614	NM_001994.3(F13B):c.1877A>G (p.Tyr626Cys)	F13B (Y626C)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 294570	NM_001994.3(F13B):c.1815C>T (p.His605=)	F13B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 258504	NM_001994.3(F13B):c.1806T>C (p.Asn602=)	F13B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 294571	NM_001994.3(F13B):c.1739-8_1739-6del	F13B	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 294572	NM_001994.3(F13B):c.1707T>G (p.Asp569Glu)	F13B (D569E)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of +1 more	GBenign/Likely benign
Select item 294573	NM_001994.3(F13B):c.1670A>G (p.His557Arg)	F13B (H557R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 717817	NM_001994.3(F13B):c.1586T>C (p.Leu529Pro)	F13B (L529P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 258503	NM_001994.3(F13B):c.1556-13C>A	F13B	Single nucleotide variant (intron variant)	Factor XIII, b subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 294574	NM_001994.3(F13B):c.1320A>G (p.Glu440=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 876610	NM_001994.3(F13B):c.1317C>T (p.Cys439=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 294575	NM_001994.3(F13B):c.1285T>C (p.Tyr429His)	F13B (Y429H)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 876611	NM_001994.3(F13B):c.1257C>A (p.Ser419=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 876612	NM_001994.3(F13B):c.1228G>A (p.Gly410Arg)	F13B (G410R)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 294576	NM_001994.3(F13B):c.1163A>T (p.Glu388Val)	F13B (E388V)	Single nucleotide variant (missense variant)	Hereditary factor XIII deficiency disease +2 more	GUncertain significance
Select item 294577	NM_001994.3(F13B):c.1145A>G (p.Lys382Arg)	F13B (K382R)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 873766	NM_001994.3(F13B):c.1106T>C (p.Leu369Pro)	F13B (L369P)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 294578	NM_001994.3(F13B):c.1098C>T (p.Ser366=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 294579	NM_001994.3(F13B):c.1089A>C (p.Ala363=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 294580	NM_001994.3(F13B):c.1060T>C (p.Tyr354His)	F13B (Y354H)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 717818	NM_001994.3(F13B):c.1049A>G (p.His350Arg)	F13B (H350R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 294581	NM_001994.3(F13B):c.1025T>C (p.Ile342Thr)	F13B (I342T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 294582	NM_001994.3(F13B):c.986-4T>C	F13B	Single nucleotide variant (intron variant)	Factor XIII, b subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 874719	NM_001994.3(F13B):c.889A>C (p.Ile297Leu)	F13B (I297L)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 294583	NM_001994.3(F13B):c.877C>T (p.Arg293Cys)	F13B (R293C)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 874720	NM_001994.3(F13B):c.874T>G (p.Tyr292Asp)	F13B (Y292D)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 874721	NM_001994.3(F13B):c.815A>G (p.Asn272Ser)	F13B (N272S)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 294584	NM_001994.3(F13B):c.796G>C (p.Val266Leu)	F13B (V266L)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 787218	NM_001994.3(F13B):c.765C>T (p.Cys255=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 874722	NM_001994.3(F13B):c.675T>A (p.His225Gln)	F13B (H225Q)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 294585	NM_001994.3(F13B):c.645_647del (p.Leu216del)	F13B (L216del)	Deletion (inframe_deletion)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 294586	NM_001994.3(F13B):c.570G>A (p.Lys190=)	F13B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 258505	NM_001994.3(F13B):c.456A>G (p.Thr152=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of +2 more	GBenign
Select item 294587	NM_001994.3(F13B):c.354C>T (p.Cys118=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 16520	NM_001994.3(F13B):c.344G>A (p.Arg115His)	F13B (R115H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 875659	NM_001994.3(F13B):c.224C>T (p.Thr75Met)	F13B (T75M)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 875660	NM_001994.3(F13B):c.96T>C (p.Asn32=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 876658	NM_001994.3(F13B):c.-23C>A	F13B	Single nucleotide variant (5 prime UTR variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 294588	NM_001994.3(F13B):c.-30T>A	F13B	Single nucleotide variant (5 prime UTR variant)	Factor XIII, b subunit, deficiency of	GUncertain significance

ClinVar

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Items: 44