3910[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 145596	GRCh38/hg38 6q21(chr6:111948842-112906602)x3	CCN6, FAM229B +15 more	Copy number gain	See cases	GUncertain significance
Select item 153380	GRCh38/hg38 6q21(chr6:112010915-112244218)x1	CCN6, FAM229B +10 more	Copy number loss	See cases	GUncertain significance
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 1598317	NM_001105206.3(LAMA4):c.5469C>T (p.Ala1823=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
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 1154809	NM_001105206.3(LAMA4):c.5460T>C (p.Cys1820=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
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)	Dilated cardiomyopathy 1JJ +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 2738897	NM_001105206.3(LAMA4):c.5443_5444dup (p.Val1815_Ser1816insTer)	LAMA4	Duplication (frameshift variant)	Dilated cardiomyopathy 1JJ	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 44408	NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile)	LAMA4 (V1808I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 178047	NM_001105206.3(LAMA4):c.5442C>T (p.Ala1814=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +2 more	GLikely benign
Select item 999603	NM_001105206.3(LAMA4):c.5440G>T (p.Ala1814Ser)	LAMA4 (A1807S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 848167	NM_001105206.3(LAMA4):c.5440G>A (p.Ala1814Thr)	LAMA4 (A1807T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1058525	NM_001105206.3(LAMA4):c.5439C>T (p.Gly1813=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 191678	NM_001105206.3(LAMA4):c.5437G>A (p.Gly1813Ser)	LAMA4 (G1806S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +2 more	GUncertain significance
Select item 2844181	NM_001105206.3(LAMA4):c.5419A>G (p.Lys1807Glu)	LAMA4 (K1800E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1562958	NM_001105206.3(LAMA4):c.5412C>T (p.Ser1804=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +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)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3289951	NM_001105206.3(LAMA4):c.5402A>T (p.His1801Leu)	LAMA4 (H1794L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 387049	NM_001105206.3(LAMA4):c.5400A>G (p.Gly1800=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +2 more	GLikely benign
Select item 1506476	NM_001105206.3(LAMA4):c.5398G>A (p.Gly1800Arg)	LAMA4 (G1800R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
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 provided +3 more	GConflicting classifications of pathogenicity
Select item 845361	NM_001105206.3(LAMA4):c.5384A>C (p.His1795Pro)	LAMA4 (H1795P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
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 1665193	NM_001105206.3(LAMA4):c.5382C>A (p.Arg1794=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
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 505573	NM_001105206.3(LAMA4):c.5380C>T (p.Arg1794Cys)	LAMA4 (R1787C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	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 191679	NM_001105206.3(LAMA4):c.5369C>T (p.Thr1790Ile)	LAMA4 (T1783I +1 more)	Single nucleotide variant (missense variant)	not provided	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 2787247	NM_001105206.3(LAMA4):c.5339_5359del (p.Thr1780_Ser1786del)	LAMA4	Deletion (inframe_deletion)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2098557	NM_001105206.3(LAMA4):c.5327-8_5347del	LAMA4	Deletion (splice acceptor variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
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)	Dilated cardiomyopathy 1JJ +3 more	GConflicting classifications of pathogenicity
Select item 1312832	NM_001105206.3(LAMA4):c.5342C>T (p.Pro1781Leu)	LAMA4 (P1774L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 793083	NM_001105206.3(LAMA4):c.5335C>T (p.Leu1779=)	LAMA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2845553	NM_001105206.3(LAMA4):c.5327-3C>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1907609	NM_001105206.3(LAMA4):c.5327-9T>A	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2843384	NM_001105206.3(LAMA4):c.5327-16T>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 672745	NM_001105206.3(LAMA4):c.5327-101A>G	LAMA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676369	NM_001105206.3(LAMA4):c.5327-178T>C	LAMA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683596	NM_001105206.3(LAMA4):c.5327-301C>A	LAMA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 44405	NM_001105206.3(LAMA4):c.5326+15A>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ +1 more	GBenign
Select item 44406	NM_001105206.3(LAMA4):c.5326+6T>G	LAMA4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2625047	NM_001105206.3(LAMA4):c.5326+5G>T	LAMA4	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3368283	NM_001105206.3(LAMA4):c.5318G>C (p.Gly1773Ala)	LAMA4 (G1766A +1 more)	Single nucleotide variant (missense variant)	not provided	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)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 793349	NM_001105206.3(LAMA4):c.5298G>A (p.Arg1766=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 1014034	NM_001105206.3(LAMA4):c.5288T>C (p.Ile1763Thr)	LAMA4 (I1756T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	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)	Cardiovascular phenotype +3 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 691712	NM_001105206.3(LAMA4):c.5269C>T (p.Pro1757Ser)	LAMA4 (P1757S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 517367	NM_001105206.3(LAMA4):c.5267G>A (p.Gly1756Glu)	LAMA4 (G1749E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1977558	NM_001105206.3(LAMA4):c.5259T>C (p.His1753=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
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)	not specified +2 more	GLikely benign
Select item 406146	NM_001105206.3(LAMA4):c.5237A>G (p.Asp1746Gly)	LAMA4 (D1739G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2996188	NM_001105206.3(LAMA4):c.5233T>C (p.Leu1745=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 1717285	NM_001105206.3(LAMA4):c.5232G>T (p.Gln1744His)	LAMA4 (Q1737H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 489021	NM_001105206.3(LAMA4):c.5230C>T (p.Gln1744Ter)	LAMA4 (Q1737* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3289946	NM_001105206.3(LAMA4):c.5229T>C (p.Val1743=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2866776	NM_001105206.3(LAMA4):c.5224G>A (p.Val1742Met)	LAMA4 (V1735M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
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 2877301	NM_001105206.3(LAMA4):c.5214A>C (p.Arg1738Ser)	LAMA4 (R1738S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 756215	NM_001105206.3(LAMA4):c.5211T>C (p.Ile1737=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2696723	NM_001105206.3(LAMA4):c.5207-8C>A	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 1611147	NM_001105206.3(LAMA4):c.5207-13C>A	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 213577	NM_001105206.3(LAMA4):c.5207-14G>C	LAMA4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1641081	NM_001105206.3(LAMA4):c.5207-16_5207-15del	LAMA4	Deletion (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 672744	NM_001105206.3(LAMA4):c.5207-49_5207-47dup	LAMA4	Duplication (intron variant)	not provided	GBenign
Select item 672743	NM_001105206.3(LAMA4):c.5206+184C>T	LAMA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672742	NM_001105206.3(LAMA4):c.5206+70C>G	LAMA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673048	NM_001105206.3(LAMA4):c.5206+59C>A	LAMA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2129031	NM_001105206.3(LAMA4):c.5206+16G>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 635222	NM_001105206.3(LAMA4):c.5206+1G>A	LAMA4	Single nucleotide variant (splice donor variant)	not provided +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

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