"Ambry Genetics"[submitter] AND "LAMA4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178046	NM_001105206.3(LAMA4):c.*1C>T	LAMA4	Single nucleotide variant (3 prime UTR variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2447567	NM_001105206.3(LAMA4):c.5461C>T (p.Pro1821Ser)	LAMA4 (P1814S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 406142	NM_001105206.3(LAMA4):c.5458T>C (p.Cys1820Arg)	LAMA4 (C1813R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 2562627	NM_001105206.3(LAMA4):c.5456C>T (p.Ser1819Phe)	LAMA4 (S1812F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 178045	NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr)	LAMA4 (I1810T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 2447559	NM_001105206.3(LAMA4):c.5448C>A (p.Ser1816Arg)	LAMA4 (S1809R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 213603	NM_001105206.3(LAMA4):c.5444dup (p.Ser1816fs)	LAMA4 (S1816fs +1 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1JJ +2 more	GConflicting classifications of pathogenicity
Select item 178047	NM_001105206.3(LAMA4):c.5442C>T (p.Ala1814=)	LAMA4	Single nucleotide variant (synonymous variant)	LAMA4-related condition +3 more	GLikely benign
Select item 848167	NM_001105206.3(LAMA4):c.5440G>A (p.Ala1814Thr)	LAMA4 (A1807T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 1562958	NM_001105206.3(LAMA4):c.5412C>T (p.Ser1804=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 264038	NM_001105206.3(LAMA4):c.5405C>A (p.Pro1802Gln)	LAMA4 (P1795Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 387049	NM_001105206.3(LAMA4):c.5400A>G (p.Gly1800=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1747119	NM_001105206.3(LAMA4):c.5396A>T (p.Asp1799Val)	LAMA4 (D1799V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1358760	NM_001105206.3(LAMA4):c.5393T>G (p.Ile1798Ser)	LAMA4 (I1798S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 518608	NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr)	LAMA4 (I1791T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 851295	NM_001105206.3(LAMA4):c.5383C>T (p.His1795Tyr)	LAMA4 (H1788Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2447576	NM_001105206.3(LAMA4):c.5380C>A (p.Arg1794Ser)	LAMA4 (R1787S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1747023	NM_001105206.3(LAMA4):c.5375G>A (p.Cys1792Tyr)	LAMA4 (C1792Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 541231	NM_001105206.3(LAMA4):c.5364C>A (p.Pro1788=)	LAMA4	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 453104	NM_001105206.3(LAMA4):c.5345G>A (p.Arg1782His)	LAMA4 (R1775H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 178049	NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)	LAMA4 (R1775C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1746833	NM_001105206.3(LAMA4):c.5341C>T (p.Pro1781Ser)	LAMA4 (P1781S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 213578	NM_001105206.3(LAMA4):c.5340A>G (p.Thr1780=)	LAMA4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 793083	NM_001105206.3(LAMA4):c.5335C>T (p.Leu1779=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2625047	NM_001105206.3(LAMA4):c.5326+5G>T	LAMA4	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625032	NM_001105206.3(LAMA4):c.5318G>A (p.Gly1773Asp)	LAMA4 (G1773D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1746658	NM_001105206.3(LAMA4):c.5317G>A (p.Gly1773Ser)	LAMA4 (G1766S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222060	NM_001105206.3(LAMA4):c.5315del (p.Gly1772fs)	LAMA4 (G1765fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1746636	NM_001105206.3(LAMA4):c.5311G>T (p.Val1771Phe)	LAMA4 (V1764F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 213596	NM_001105206.3(LAMA4):c.5309T>C (p.Phe1770Ser)	LAMA4 (F1763S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3222059	NM_001105206.3(LAMA4):c.5284C>T (p.Pro1762Ser)	LAMA4 (P1755S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222058	NM_001105206.3(LAMA4):c.5272C>A (p.Leu1758Met)	LAMA4 (L1751M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 44404	NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu)	LAMA4 (P1750L +1 more)	Single nucleotide variant (missense variant)	LAMA4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 3117487	NM_001105206.3(LAMA4):c.5269C>A (p.Pro1757Thr)	LAMA4 (P1750T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 517367	NM_001105206.3(LAMA4):c.5267G>A (p.Gly1756Glu)	LAMA4 (G1749E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 643208	NM_001105206.3(LAMA4):c.5254A>G (p.Asn1752Asp)	LAMA4 (N1745D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 504530	NM_001105206.3(LAMA4):c.5241G>A (p.Val1747=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +2 more	GLikely benign
Select item 1745951	NM_001105206.3(LAMA4):c.5219C>T (p.Ser1740Phe)	LAMA4 (S1740F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745934	NM_001105206.3(LAMA4):c.5215G>A (p.Asp1739Asn)	LAMA4 (D1732N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222057	NM_001105206.3(LAMA4):c.5214A>G (p.Arg1738=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 635222	NM_001105206.3(LAMA4):c.5206+1G>A	LAMA4	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1JJ +2 more	GUncertain significance
Select item 2562616	NM_001105206.3(LAMA4):c.5202T>C (p.Ile1734=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1410735	NM_001105206.3(LAMA4):c.5194C>T (p.His1732Tyr)	LAMA4 (H1732Y +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 2562628	NM_001105206.3(LAMA4):c.5187C>T (p.Gly1729=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1745625	NM_001105206.3(LAMA4):c.5166C>A (p.Pro1722=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1745582	NM_001105206.3(LAMA4):c.5159T>A (p.Val1720Asp)	LAMA4 (V1713D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745574	NM_001105206.3(LAMA4):c.5158_5159delinsAA (p.Val1720Asn)	LAMA4 (V1713N +1 more)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745579	NM_001105206.3(LAMA4):c.5158G>A (p.Val1720Ile)	LAMA4 (V1720I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745442	NM_001105206.3(LAMA4):c.5138T>C (p.Ile1713Thr)	LAMA4 (I1713T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1101391	NM_001105206.3(LAMA4):c.5133T>C (p.Asn1711=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1745305	NM_001105206.3(LAMA4):c.5119G>A (p.Val1707Met)	LAMA4 (V1707M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2061585	NM_001105206.3(LAMA4):c.5117T>C (p.Ile1706Thr)	LAMA4 (I1699T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 2447570	NM_001105206.3(LAMA4):c.5112+4G>A	LAMA4	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745254	NM_001105206.3(LAMA4):c.5110C>G (p.Gln1704Glu)	LAMA4 (Q1704E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2562624	NM_001105206.3(LAMA4):c.5098A>G (p.Met1700Val)	LAMA4 (M1700V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745076	NM_001105206.3(LAMA4):c.5080G>A (p.Glu1694Lys)	LAMA4 (E1694K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222056	NM_001105206.3(LAMA4):c.5069G>A (p.Ser1690Asn)	LAMA4 (S1683N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2072622	NM_001105206.3(LAMA4):c.5061C>T (p.His1687=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1744907	NM_001105206.3(LAMA4):c.5053C>T (p.Leu1685=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 509053	NM_001105206.3(LAMA4):c.5046C>T (p.Ser1682=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 518848	NM_001105206.3(LAMA4):c.5035A>G (p.Arg1679Gly)	LAMA4 (R1672G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 518525	NM_001105206.3(LAMA4):c.5021T>G (p.Phe1674Cys)	LAMA4 (F1667C +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 1744548	NM_001105206.3(LAMA4):c.5007G>C (p.Lys1669Asn)	LAMA4 (K1662N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 213608	NM_001105206.3(LAMA4):c.5005A>G (p.Lys1669Glu)	LAMA4 (K1662E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3222054	NM_001105206.3(LAMA4):c.5004G>C (p.Leu1668Phe)	LAMA4 (L1661F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1329452	NM_001105206.3(LAMA4):c.5004G>A (p.Leu1668=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1744537	NM_001105206.3(LAMA4):c.5002T>G (p.Leu1668Val)	LAMA4 (L1661V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 227481	NM_001105206.3(LAMA4):c.5002T>C (p.Leu1668=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +2 more	GLikely benign
Select item 2287444	NM_001105206.3(LAMA4):c.4994A>G (p.Asn1665Ser)	LAMA4 (N1665S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1744429	NM_001105206.3(LAMA4):c.4984G>C (p.Glu1662Gln)	LAMA4 (E1655Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 180112	NM_001105206.3(LAMA4):c.4982-3del	LAMA4	Deletion (intron variant)	not specified +2 more	GUncertain significance
Select item 1113722	NM_001105206.3(LAMA4):c.4977T>C (p.Val1659=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 541227	NM_001105206.3(LAMA4):c.4972G>A (p.Val1658Met)	LAMA4 (V1651M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 1677481	NM_001105206.3(LAMA4):c.4967G>A (p.Gly1656Glu)	LAMA4 (G1649E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1744230	NM_001105206.3(LAMA4):c.4957A>C (p.Thr1653Pro)	LAMA4 (T1653P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1744094	NM_001105206.3(LAMA4):c.4940C>T (p.Thr1647Ile)	LAMA4 (T1640I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1743870	NM_001105206.3(LAMA4):c.4914C>A (p.Thr1638=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1743747	NM_001105206.3(LAMA4):c.4896T>C (p.Ser1632=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1423846	NM_001105206.3(LAMA4):c.4883T>G (p.Ile1628Ser)	LAMA4 (I1621S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +2 more	GUncertain significance
Select item 2447555	NM_001105206.3(LAMA4):c.4880C>T (p.Ser1627Phe)	LAMA4 (S1620F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1516713	NM_001105206.3(LAMA4):c.4871A>G (p.Asn1624Ser)	LAMA4 (N1617S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 406148	NM_001105206.3(LAMA4):c.4870A>C (p.Asn1624His)	LAMA4 (N1617H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 811052	NM_001105206.3(LAMA4):c.4869C>T (p.Leu1623=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1743529	NM_001105206.3(LAMA4):c.4867C>T (p.Leu1623Phe)	LAMA4 (L1616F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1743522	NM_001105206.3(LAMA4):c.4865A>G (p.Gln1622Arg)	LAMA4 (Q1622R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 44398	NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe)	LAMA4 (L1611F +1 more)	Single nucleotide variant (missense variant)	LAMA4-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1743368	NM_001105206.3(LAMA4):c.4842T>C (p.Phe1614=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1743333	NM_001105206.3(LAMA4):c.4840T>G (p.Phe1614Val)	LAMA4 (F1607V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 515547	NM_001105206.3(LAMA4):c.4839T>C (p.Ser1613=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1743228	NM_001105206.3(LAMA4):c.4827C>G (p.Asn1609Lys)	LAMA4 (N1609K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 44397	NM_001105206.3(LAMA4):c.4822-3C>T	LAMA4	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1743119	NM_001105206.3(LAMA4):c.4814dup (p.Asn1605fs)	LAMA4 (N1605fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1742988	NM_001105206.3(LAMA4):c.4794T>A (p.Ala1598=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 228783	NM_001105206.3(LAMA4):c.4792G>T (p.Ala1598Ser)	LAMA4 (A1591S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 3222053	NM_001105206.3(LAMA4):c.4788T>C (p.Gly1596=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 579669	NM_001105206.3(LAMA4):c.4786G>A (p.Gly1596Ser)	LAMA4 (G1589S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2447551	NM_001105206.3(LAMA4):c.4781T>C (p.Leu1594Ser)	LAMA4 (L1587S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2203376	NM_001105206.3(LAMA4):c.4769G>A (p.Gly1590Asp)	LAMA4 (G1583D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 1742804	NM_001105206.3(LAMA4):c.4768G>A (p.Gly1590Ser)	LAMA4 (G1590S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1742719	NM_001105206.3(LAMA4):c.4751C>T (p.Ala1584Val)	LAMA4 (A1577V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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