ClinVar for MedGen (Select 462430) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1518704	NM_000066.4(C8B):c.407G>A (p.Arg136His)	C8B (R136H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1511289	NM_000066.4(C8B):c.659C>A (p.Thr220Lys)	C8B (T220K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1511217	NM_000066.4(C8B):c.725G>A (p.Arg242His)	C8B (R242H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1507317	NM_000066.4(C8B):c.1606G>A (p.Val536Ile)	C8B (V484I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1445328	NM_000066.4(C8B):c.212C>G (p.Ser71Cys)	C8B (S71C +1 more)	Single nucleotide variant (missense variant +1 more)	Type II complement component 8 deficiency +1 more	GUncertain significance
Select item 1405326	NM_000066.4(C8B):c.1438G>A (p.Ala480Thr)	C8B (A428T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1325387	NM_000066.4(C8B):c.348C>A (p.Cys116Ter)	C8B (C116* +2 more)	Single nucleotide variant (nonsense)	Type II complement component 8 deficiency	GPathogenic
Select item 1169777	NM_000066.4(C8B):c.349G>A (p.Gly117Arg)	C8B (G117R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1168190	NM_000066.4(C8B):c.1622-20A>G	C8B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167718	NM_000066.4(C8B):c.1355G>C (p.Trp452Ser)	C8B (W390S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1167442	NM_000066.4(C8B):c.1398+9C>T	C8B	Single nucleotide variant (intron variant)	Type II complement component 8 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1032165	NM_000066.4(C8B):c.27G>A (p.Trp9Ter)	C8B (W9*)	Single nucleotide variant (nonsense +1 more)	Type II complement component 8 deficiency +1 more	GPathogenic
Select item 827971	NM_000066.4(C8B):c.967C>T (p.Arg323Trp)	C8B (R261W +2 more)	Single nucleotide variant (missense variant)	Type II complement component 8 deficiency +1 more	GUncertain significance
Select item 827970	NM_000066.4(C8B):c.164G>A (p.Ser55Asn)	C8B (S3N +1 more)	Single nucleotide variant (missense variant +1 more)	Type II complement component 8 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 559594	NM_000066.4(C8B):c.1653G>A (p.Trp551Ter)	C8B (W551* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 35597	NM_000066.4(C8B):c.1041_1047dup (p.Leu350fs)	C8B (L298fs +2 more)	Duplication (frameshift variant)	Type II complement component 8 deficiency	GPathogenic
Select item 35596	NM_000066.4(C8B):c.605del (p.Pro202fs)	C8B (P140fs +2 more)	Deletion (frameshift variant)	Type II complement component 8 deficiency	GPathogenic
Select item 35595	NM_000066.4(C8B):c.336del (p.Asn113fs)	C8B (N51fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 35594	NM_000066.4(C8B):c.271C>T (p.Gln91Ter)	C8B (Q91* +2 more)	Single nucleotide variant (nonsense)	Type II complement component 8 deficiency +3 more	GPathogenic/Likely pathogenic
Select item 35593	NM_000066.4(C8B):c.361C>T (p.Arg121Ter)	C8B (R121* +2 more)	Single nucleotide variant (nonsense)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 35592	NM_000066.4(C8B):c.820C>T (p.Arg274Ter)	C8B (R274* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 17038	NM_000066.4(C8B):c.1282C>T (p.Arg428Ter)	C8B (R428* +2 more)	Single nucleotide variant (nonsense)	Type II complement component 8 deficiency +3 more	GPathogenic

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Items: 22