"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178045	NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr)	LAMA4 (I1810T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 178049	NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)	LAMA4 (R1775C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 213577	NM_001105206.3(LAMA4):c.5207-14G>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ +1 more	GBenign/Likely benign
Select item 44400	NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +2 more	GBenign/Likely benign
Select item 44398	NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe)	LAMA4 (L1611F +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 178050	NM_001105206.3(LAMA4):c.4665+8G>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ +2 more	GBenign/Likely benign
Select item 44393	NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser)	LAMA4 (N1542S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GBenign/Likely benign
Select item 44386	NM_001105206.3(LAMA4):c.4287+15C>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ +1 more	GBenign
Select item 1051678	NM_001105206.3(LAMA4):c.4208C>T (p.Pro1403Leu)	LAMA4 (P1396L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 44383	NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GBenign
Select item 44381	NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GBenign
Select item 44380	NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile)	LAMA4 (V1308I +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 213576	NM_001105206.3(LAMA4):c.3311A>G (p.Asn1104Ser)	LAMA4 (N1097S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1285055	NM_001105206.3(LAMA4):c.3296G>T (p.Arg1099Ile)	LAMA4 (R1092I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 44374	NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln)	LAMA4 (R1073Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +3 more	GBenign/Likely benign
Select item 1284860	NM_001105206.3(LAMA4):c.3109C>T (p.Arg1037Ter)	LAMA4 (R1030* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 44370	NM_001105206.3(LAMA4):c.2950G>A (p.Val984Ile)	LAMA4 (V977I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 163788	NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=)	LAMA4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 213587	NM_001105206.3(LAMA4):c.2599C>A (p.Pro867Thr)	LAMA4 (P860T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +2 more	GUncertain significance
Select item 1087734	NM_001105206.3(LAMA4):c.2475C>G (p.Thr825=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +1 more	GLikely benign
Select item 518371	NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu)	LAMA4 (F762L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 213573	NM_001105206.3(LAMA4):c.2250G>A (p.Gln750=)	LAMA4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 518372	NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=)	LAMA4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 44361	NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)	LAMA4 (R717K +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1174849	NM_001105206.3(LAMA4):c.2057-2A>T	LAMA4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 177973	NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)	LAMA4	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 213585	NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 1284515	NM_001105206.3(LAMA4):c.1778A>G (p.His593Arg)	LAMA4 (H586R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 44349	NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys)	LAMA4 (R538C +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GBenign/Likely benign
Select item 163793	NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=)	LAMA4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1175087	NM_001105206.3(LAMA4):c.1176_1177insT (p.Asp393Ter)	LAMA4 (D386* +1 more)	Insertion (nonsense)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 413762	NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +2 more	GBenign/Likely benign
Select item 178056	NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=)	LAMA4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 44413	NM_001105206.3(LAMA4):c.924T>C (p.His308=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +3 more	GBenign/Likely benign
Select item 264484	NM_001105206.3(LAMA4):c.874G>A (p.Glu292Lys)	LAMA4 (E285K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 44410	NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly)	LAMA4 (A281G +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1284459	NM_001105206.3(LAMA4):c.815-13G>A	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 192121	NM_001105206.3(LAMA4):c.668G>A (p.Arg223His)	LAMA4 (R223H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 44402	NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser)	LAMA4 (G172S)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 44392	NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp)	LAMA4 (R154W)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 138066	NM_001105206.3(LAMA4):c.456T>A (p.Ala152=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 44385	NM_001105206.3(LAMA4):c.423-4T>G	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ +1 more	GBenign
Select item 44384	NM_001105206.3(LAMA4):c.423-10C>T	LAMA4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 213579	NM_001105206.3(LAMA4):c.422+20G>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ +1 more	GBenign/Likely benign
Select item 44368	NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser)	LAMA4 (G94S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 44354	NM_001105206.3(LAMA4):c.196-12T>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ +1 more	GBenign
Select item 44355	NM_001105206.3(LAMA4):c.196-15G>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ +1 more	GConflicting classifications of pathogenicity
Select item 213572	NM_001105206.3(LAMA4):c.85G>C (p.Asp29His)	LAMA4, LAMA4-AS1 (D29H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign

ClinVar

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Items: 48