Related gene-specific medical variations for Gene (Select 84700) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065692	NM_032608.7(MYO18B):c.2884A>G (p.Thr962Ala)	MYO18B (T962A)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GUncertain significance
Select item 2994537	NM_032608.7(MYO18B):c.4793G>A (p.Arg1598Gln)	MYO18B, MYO18B-AS1 (R1598Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992237	NM_032608.7(MYO18B):c.4544-19C>T	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963395	NM_032608.7(MYO18B):c.4768G>T (p.Val1590Phe)	MYO18B, MYO18B-AS1 (V1590F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961668	NM_032608.7(MYO18B):c.4544-16del	MYO18B, MYO18B-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2960135	NM_032608.7(MYO18B):c.4351T>C (p.Phe1451Leu)	MYO18B, MYO18B-AS1 (F1451L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957249	NM_032608.7(MYO18B):c.4684dup (p.Ser1562fs)	MYO18B, MYO18B-AS1 (S1562fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2906524	NM_032608.7(MYO18B):c.4593C>T (p.Phe1531=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902428	NM_032608.7(MYO18B):c.4434+9_4434+18del	MYO18B, MYO18B-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2884248	NM_032608.7(MYO18B):c.4391G>A (p.Arg1464Gln)	MYO18B, MYO18B-AS1 (R1464Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2880908	NM_032608.7(MYO18B):c.4500G>A (p.Gln1500=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875472	NM_032608.7(MYO18B):c.4669-15C>T	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871887	NM_032608.7(MYO18B):c.4752C>A (p.Asp1584Glu)	MYO18B, MYO18B-AS1 (D1584E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828768	NM_032608.7(MYO18B):c.4791T>C (p.Ser1597=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820155	NM_032608.7(MYO18B):c.4823+5G>A	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2820154	NM_032608.7(MYO18B):c.4668+2T>A	MYO18B, MYO18B-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2819567	NM_032608.7(MYO18B):c.4435-13C>T	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816370	NM_032608.7(MYO18B):c.4544-7T>G	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2741202	NM_032608.7(MYO18B):c.4543+1G>A	MYO18B, MYO18B-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2703739	NM_032608.7(MYO18B):c.4458_4464dup (p.Gly1489fs)	MYO18B, MYO18B-AS1 (G1490fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2701265	NM_032608.7(MYO18B):c.4435-2A>C	MYO18B, MYO18B-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2697371	NM_032608.7(MYO18B):c.4380G>T (p.Leu1460=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689511	NM_032608.7(MYO18B):c.3991C>A (p.Gln1331Lys)	MYO18B (Q1331K +1 more)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GUncertain significance
Select item 2689510	NM_032608.7(MYO18B):c.2545T>C (p.Phe849Leu)	MYO18B (F849L)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GUncertain significance
Select item 2689509	NM_032608.7(MYO18B):c.2183C>T (p.Thr728Ile)	MYO18B (T728I)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GUncertain significance
Select item 2689508	NM_032608.7(MYO18B):c.3389T>C (p.Phe1130Ser)	MYO18B (F1130S +1 more)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GUncertain significance
Select item 2689507	NM_032608.7(MYO18B):c.6182C>T (p.Ala2061Val)	MYO18B (A2061V +1 more)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GUncertain significance
Select item 2689506	NM_032608.7(MYO18B):c.2191A>G (p.Ile731Val)	MYO18B (I731V)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GUncertain significance
Select item 2433964	NM_032608.7(MYO18B):c.3065G>A (p.Arg1022His)	MYO18B (R1022H +1 more)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GUncertain significance
Select item 2433963	NM_032608.7(MYO18B):c.7579C>T (p.Arg2527Ter)	MYO18B (R2527* +1 more)	Single nucleotide variant (nonsense)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GUncertain significance
Select item 2433962	NM_032608.7(MYO18B):c.5971-1045_5971-1042delinsGCCA	MYO18B	Indel (intron variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GUncertain significance
Select item 2431965	NM_032608.7(MYO18B):c.699dup (p.Gly234fs)	MYO18B (G234fs)	Duplication (frameshift variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GLikely pathogenic
Select item 2421833	NM_032608.7(MYO18B):c.4701C>T (p.Ala1567=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414906	NM_032608.7(MYO18B):c.4544-10C>T	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2326315	NM_032608.7(MYO18B):c.4645G>T (p.Ala1549Ser)	MYO18B-AS1, MYO18B (A1549S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2255088	NM_032608.7(MYO18B):c.4456A>G (p.Lys1486Glu)	MYO18B, MYO18B-AS1 (K1487E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200446	NM_032608.7(MYO18B):c.4399C>T (p.Arg1467Trp)	MYO18B, MYO18B-AS1 (R1467W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2193537	NM_032608.7(MYO18B):c.4792C>T (p.Arg1598Ter)	MYO18B, MYO18B-AS1 (R1599* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2135619	NM_032608.7(MYO18B):c.4617C>A (p.Cys1539Ter)	MYO18B, MYO18B-AS1 (C1539* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2134791	NM_032608.7(MYO18B):c.4654_4655delinsTT (p.Glu1552Leu)	MYO18B, MYO18B-AS1 (E1553L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2134484	NM_032608.7(MYO18B):c.4677G>C (p.Glu1559Asp)	MYO18B, MYO18B-AS1 (E1560D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132763	NM_032608.7(MYO18B):c.4315-17C>T	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128055	NM_032608.7(MYO18B):c.4544C>G (p.Ala1515Gly)	MYO18B-AS1, MYO18B (A1515G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126394	NM_032608.7(MYO18B):c.4646C>T (p.Ala1549Val)	MYO18B, MYO18B-AS1 (A1550V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114650	NM_032608.7(MYO18B):c.4607T>A (p.Leu1536Gln)	MYO18B-AS1, MYO18B (L1537Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114397	NM_032608.7(MYO18B):c.4693G>A (p.Asp1565Asn)	MYO18B, MYO18B-AS1 (D1566N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113983	NM_032608.7(MYO18B):c.4656_4657delinsTG (p.Glu1552_Leu1553delinsAspVal)	MYO18B, MYO18B-AS1	Indel (missense variant)	not provided	GUncertain significance
Select item 2095277	NM_032608.7(MYO18B):c.4507C>T (p.Gln1503Ter)	MYO18B, MYO18B-AS1 (Q1503* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2090660	NM_032608.7(MYO18B):c.4668+13G>A	MYO18B-AS1, MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086227	NM_032608.7(MYO18B):c.4817A>G (p.Gln1606Arg)	MYO18B, MYO18B-AS1 (Q1606R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080787	NM_032608.7(MYO18B):c.4349G>A (p.Arg1450His)	MYO18B-AS1, MYO18B (R1451H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073078	NM_032608.7(MYO18B):c.4603C>T (p.Arg1535Cys)	MYO18B, MYO18B-AS1 (R1536C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060576	NM_032608.7(MYO18B):c.4809G>A (p.Glu1603=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035873	NM_032608.7(MYO18B):c.4410C>T (p.Ala1470=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024331	NM_032608.7(MYO18B):c.4668+7T>C	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022086	NM_032608.7(MYO18B):c.4717C>T (p.Gln1573Ter)	MYO18B, MYO18B-AS1 (Q1574* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1998485	NM_032608.7(MYO18B):c.4434+20C>T	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978330	NM_032608.7(MYO18B):c.4668+19C>G	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960104	NM_032608.7(MYO18B):c.4442A>G (p.His1481Arg)	MYO18B, MYO18B-AS1 (H1482R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959730	NM_032608.7(MYO18B):c.4823+20A>G	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956214	NM_032608.7(MYO18B):c.4543+3G>A	MYO18B-AS1, MYO18B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1948394	NM_032608.7(MYO18B):c.4668+9T>C	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947150	NM_032608.7(MYO18B):c.4547A>T (p.Asp1516Val)	MYO18B, MYO18B-AS1 (D1516V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943510	NM_032608.7(MYO18B):c.4760A>T (p.Asp1587Val)	MYO18B, MYO18B-AS1 (D1587V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935044	NM_032608.7(MYO18B):c.4435A>C (p.Ser1479Arg)	MYO18B, MYO18B-AS1 (S1479R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933736	NM_032608.7(MYO18B):c.4562G>A (p.Arg1521His)	MYO18B, MYO18B-AS1 (R1521H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924428	NM_032608.7(MYO18B):c.4564T>G (p.Phe1522Val)	MYO18B, MYO18B-AS1 (F1523V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919310	NM_032608.7(MYO18B):c.4804C>T (p.Leu1602=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917984	NM_032608.7(MYO18B):c.4368C>T (p.Ala1456=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904750	NM_032608.7(MYO18B):c.4434+11del	MYO18B, MYO18B-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1900588	NM_032608.7(MYO18B):c.4315-15C>G	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897182	NM_032608.7(MYO18B):c.4544-14A>C	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1717096	NM_032608.7(MYO18B):c.4360G>A (p.Asp1454Asn)	MYO18B, MYO18B-AS1 (D1454N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700516	NM_032608.7(MYO18B):c.4711G>T (p.Ala1571Ser)	MYO18B, MYO18B-AS1 (A1571S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667613	NM_032608.7(MYO18B):c.4434+20_4434+29del	MYO18B, MYO18B-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1661220	NM_032608.7(MYO18B):c.4548C>T (p.Asp1516=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1657769	NM_032608.7(MYO18B):c.4669-14T>G	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656127	NM_032608.7(MYO18B):c.4315-18C>T	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648856	NM_032608.7(MYO18B):c.4544-15G>T	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638134	NM_032608.7(MYO18B):c.4341C>T (p.Ala1447=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636449	NM_032608.7(MYO18B):c.4635G>A (p.Ser1545=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632227	NM_032608.7(MYO18B):c.4434+14G>C	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629271	NM_032608.7(MYO18B):c.4668+13G>C	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622609	NM_032608.7(MYO18B):c.4617C>T (p.Cys1539=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617181	NM_032608.7(MYO18B):c.4668+18T>A	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1591443	NM_032608.7(MYO18B):c.4695C>T (p.Asp1565=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1585864	NM_032608.7(MYO18B):c.4767C>T (p.Cys1589=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1578552	NM_032608.7(MYO18B):c.4587C>T (p.Asn1529=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574486	NM_032608.7(MYO18B):c.4677G>A (p.Glu1559=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574241	NM_032608.7(MYO18B):c.4401G>T (p.Arg1467=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571571	NM_032608.7(MYO18B):c.4435-15A>T	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1558574	NM_032608.7(MYO18B):c.4467A>C (p.Gly1489=)	MYO18B, MYO18B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541614	NM_032608.7(MYO18B):c.4823+12C>T	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536431	NM_032608.7(MYO18B):c.4544-9G>A	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532141	NM_032608.7(MYO18B):c.4383G>A (p.Glu1461=)	MYO18B-AS1, MYO18B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1524029	NM_032608.7(MYO18B):c.4802A>G (p.Glu1601Gly)	MYO18B, MYO18B-AS1 (E1601G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500048	NM_032608.7(MYO18B):c.4434+9_4434+18dup	MYO18B, MYO18B-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1499572	NM_032608.7(MYO18B):c.4415G>A (p.Arg1472Gln)	MYO18B, MYO18B-AS1 (R1472Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475983	NM_032608.7(MYO18B):c.4449A>T (p.Gln1483His)	MYO18B, MYO18B-AS1 (Q1483H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474059	NM_032608.7(MYO18B):c.4668+6A>G	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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