C8B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 149037	GRCh38/hg38 1p32.2(chr1:56429283-57190889)x3	C8A, C8B +16 more	Copy number gain	See cases	GUncertain significance
Select item 2079277	NM_000066.4(C8B):c.1772C>T (p.Ser591Phe)	C8B (S529F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054194	NM_000066.4(C8B):c.1770C>T (p.Cys590=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3136086	NM_000066.4(C8B):c.1767C>A (p.Asp589Glu)	C8B (D527E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1523012	NM_000066.4(C8B):c.1767C>G (p.Asp589Glu)	C8B (D537E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759239	NM_000066.4(C8B):c.1761A>G (p.Thr587=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906645	NM_000066.4(C8B):c.1746C>T (p.Gly582=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1393333	NM_000066.4(C8B):c.1739G>T (p.Cys580Phe)	C8B (C528F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1575870	NM_000066.4(C8B):c.1725T>C (p.Asn575=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1391523	NM_000066.4(C8B):c.1723A>G (p.Asn575Asp)	C8B (N513D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950344	NM_000066.4(C8B):c.1719T>C (p.Pro573=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012461	NM_000066.4(C8B):c.1717C>T (p.Pro573Ser)	C8B (P511S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1131461	NM_000066.4(C8B):c.1716T>G (p.Pro572=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507825	NM_000066.4(C8B):c.1712C>T (p.Pro571Leu)	C8B (P519L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046942	NM_000066.4(C8B):c.1689A>G (p.Thr563=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930348	NM_000066.4(C8B):c.1683T>C (p.Arg561=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903414	NM_000066.4(C8B):c.1682G>A (p.Arg561His)	C8B (R561H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497305	NM_000066.4(C8B):c.1681C>T (p.Arg561Cys)	C8B (R499C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1414118	NM_000066.4(C8B):c.1657A>G (p.Asn553Asp)	C8B (N501D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2070020	NM_000066.4(C8B):c.1643G>A (p.Trp548Ter)	C8B (W548* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1429324	NM_000066.4(C8B):c.1642T>G (p.Trp548Gly)	C8B (W486G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935119	NM_000066.4(C8B):c.1641G>C (p.Lys547Asn)	C8B (K547N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480586	NM_000066.4(C8B):c.1628C>A (p.Pro543His)	C8B (P481H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011268	NM_000066.4(C8B):c.1626C>T (p.Thr542=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955475	NM_000066.4(C8B):c.1626C>G (p.Thr542=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770848	NM_000066.4(C8B):c.1625C>T (p.Thr542Ile)	C8B (T480I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1397322	NM_000066.4(C8B):c.1622A>G (p.Asn541Ser)	C8B (N479S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500582	NM_000066.4(C8B):c.1622-3T>C	C8B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2962856	NM_000066.4(C8B):c.1622-4A>G	C8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992096	NM_000066.4(C8B):c.1622-17G>A	C8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168190	NM_000066.4(C8B):c.1622-20A>G	C8B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1954412	NM_000066.4(C8B):c.1621+13G>A	C8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1060534	NM_000066.4(C8B):c.1620G>C (p.Lys540Asn)	C8B (K478N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024861	NM_000066.4(C8B):c.1618A>T (p.Lys540Ter)	C8B (K488* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1416965	NM_000066.4(C8B):c.1616G>A (p.Arg539Gln)	C8B (R487Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3136085	NM_000066.4(C8B):c.1615C>T (p.Arg539Trp)	C8B (R539W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1366009	NM_000066.4(C8B):c.1607T>A (p.Val536Asp)	C8B (V536D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507317	NM_000066.4(C8B):c.1606G>A (p.Val536Ile)	C8B (V484I +2 more)	Single nucleotide variant (missense variant)	Type II complement component 8 deficiency +1 more	GUncertain significance
Select item 1662749	NM_000066.4(C8B):c.1599C>T (p.Ala533=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933265	NM_000066.4(C8B):c.1598C>G (p.Ala533Gly)	C8B (A471G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101895	NM_000066.4(C8B):c.1591G>A (p.Gly531Ser)	C8B (G469S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895905	NM_000066.4(C8B):c.1577C>T (p.Pro526Leu)	C8B (P474L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362044	NM_000066.4(C8B):c.1559G>A (p.Arg520His)	C8B (R458H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054845	NM_000066.4(C8B):c.1558C>T (p.Arg520Cys)	C8B (R458C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703532	NM_000066.4(C8B):c.1553-2A>G	C8B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1668547	NM_000066.4(C8B):c.1553-14C>T	C8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957699	NM_000066.4(C8B):c.1552+2T>C	C8B	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1452716	NM_000066.4(C8B):c.1524C>A (p.Cys508Ter)	C8B (C446* +2 more)	Single nucleotide variant (nonsense)	C8B-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2824473	NM_000066.4(C8B):c.1505C>A (p.Ser502Tyr)	C8B (S502Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106765	NM_000066.4(C8B):c.1502G>C (p.Ser501Thr)	C8B (S449T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392761	NM_000066.4(C8B):c.1498G>A (p.Val500Ile)	C8B (V500I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510672	NM_000066.4(C8B):c.1492A>G (p.Lys498Glu)	C8B (K436E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1385064	NM_000066.4(C8B):c.1466T>G (p.Met489Arg)	C8B (M427R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371835	NM_000066.4(C8B):c.1463A>G (p.Asn488Ser)	C8B (N426S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989329	NM_000066.4(C8B):c.1458G>A (p.Arg486=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1443857	NM_000066.4(C8B):c.1445C>T (p.Ser482Phe)	C8B (S430F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356818	NM_000066.4(C8B):c.1442A>G (p.Tyr481Cys)	C8B (Y419C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955240	NM_000066.4(C8B):c.1441del (p.Tyr481fs)	C8B (Y419fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 793337	NM_000066.4(C8B):c.1437T>A (p.Phe479Leu)	C8B (F427L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1427047	NM_000066.4(C8B):c.1414G>A (p.Glu472Lys)	C8B (E410K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376538	NM_000066.4(C8B):c.1405C>T (p.Pro469Ser)	C8B (P417S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2079105	NM_000066.4(C8B):c.1399-12T>C	C8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529890	NM_000066.4(C8B):c.1399-16C>T	C8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009889	NM_000066.4(C8B):c.1398+18A>G	C8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993804	NM_000066.4(C8B):c.1398+13G>T	C8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854776	NM_000066.4(C8B):c.1398+13G>C	C8B	Single nucleotide variant (intron variant)	not provided	GLikely 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 1159118	NM_000066.4(C8B):c.1398+6C>T	C8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3058059	NM_000066.4(C8B):c.1383C>A (p.Ala461=)	C8B	Single nucleotide variant (synonymous variant)	C8B-related disorder	GLikely benign
Select item 1406634	NM_000066.4(C8B):c.1382C>G (p.Ala461Gly)	C8B (A409G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159959	NM_000066.4(C8B):c.1381G>T (p.Ala461Ser)	C8B (A409S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490751	NM_000066.4(C8B):c.1375A>C (p.Asn459His)	C8B (N397H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2871202	NM_000066.4(C8B):c.1365T>C (p.Ala455=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2474072	NM_000066.4(C8B):c.1364C>T (p.Ala455Val)	C8B (A393V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2417803	NM_000066.4(C8B):c.1363G>A (p.Ala455Thr)	C8B (A393T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520838	NM_000066.4(C8B):c.1357G>C (p.Gly453Arg)	C8B (G401R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450812	NM_000066.4(C8B):c.1355G>A (p.Trp452Ter)	C8B (W390* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1167718	NM_000066.4(C8B):c.1355G>C (p.Trp452Ser)	C8B (W390S +2 more)	Single nucleotide variant (missense variant)	Type II complement component 8 deficiency +1 more	GBenign/Likely benign
Select item 1448095	NM_000066.4(C8B):c.1351G>T (p.Glu451Ter)	C8B (E389* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1575262	NM_000066.4(C8B):c.1338G>A (p.Ala446=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3262556	NM_000066.4(C8B):c.1337C>T (p.Ala446Val)	C8B (A384V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1911644	NM_000066.4(C8B):c.1335G>A (p.Thr445=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934062	NM_000066.4(C8B):c.1334C>T (p.Thr445Met)	C8B (T383M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148343	NM_000066.4(C8B):c.1332G>A (p.Pro444=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409825	NM_000066.4(C8B):c.1331C>T (p.Pro444Leu)	C8B (P382L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2969123	NM_000066.4(C8B):c.1326G>A (p.Glu442=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486493	NM_000066.4(C8B):c.1322A>G (p.Gln441Arg)	C8B (Q389R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002816	NM_000066.4(C8B):c.1307C>G (p.Thr436Ser)	C8B (T384S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3262555	NM_000066.4(C8B):c.1296T>A (p.Ser432Arg)	C8B (S370R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1931525	NM_000066.4(C8B):c.1290G>C (p.Gly430=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709332	NM_000066.4(C8B):c.1287A>C (p.Gly429=)	C8B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1444760	NM_000066.4(C8B):c.1283G>A (p.Arg428Gln)	C8B (R366Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 17038	NM_000066.4(C8B):c.1282C>T (p.Arg428Ter)	C8B (R428* +2 more)	Single nucleotide variant (nonsense)	Complement component 6 deficiency +2 more	GPathogenic

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