ClinVar for MedGen (Select 934628) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234959	NM_005932.4(MIPEP):c.503A>C (p.Asp168Ala)	MIPEP (D168A)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GUncertain significance
Select item 3234957	NM_005932.4(MIPEP):c.1854G>A (p.Trp618Ter)	MIPEP (W618*)	Single nucleotide variant (nonsense)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GLikely pathogenic
Select item 2504023	NM_005932.4(MIPEP):c.1848+2T>G	MIPEP	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2433750	NM_005932.4(MIPEP):c.2137G>A (p.Glu713Lys)	MIPEP (E713K)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GUncertain significance
Select item 2322222	NM_005932.4(MIPEP):c.309G>T (p.Gln103His)	MIPEP (Q103H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2223623	NM_005932.4(MIPEP):c.1728+5G>T	MIPEP	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1806091	NM_005932.4(MIPEP):c.890G>C (p.Gly297Ala)	MIPEP (G297A)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GLikely pathogenic
Select item 1420118	NM_005932.4(MIPEP):c.2092G>A (p.Val698Ile)	MIPEP (V698I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1321170	NM_005932.4(MIPEP):c.1462A>G (p.Ser488Gly)	MIPEP (S488G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1259605	NM_005932.4(MIPEP):c.1970+20A>C	MIPEP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1210219	NM_005932.4(MIPEP):c.1259T>C (p.Leu420Pro)	MIPEP (L420P)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GLikely pathogenic
Select item 1033048	NM_005932.4(MIPEP):c.1526G>A (p.Arg509His)	MIPEP (R509H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1033047	NM_005932.4(MIPEP):c.1354A>C (p.Ile452Leu)	MIPEP (I452L)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1033046	NM_005932.4(MIPEP):c.1008T>G (p.Phe336Leu)	MIPEP (F336L)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GUncertain significance
Select item 1030040	NM_005932.4(MIPEP):c.40G>A (p.Ala14Thr)	MIPEP, PCOTH (A14T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1030039	NM_005932.4(MIPEP):c.1708G>A (p.Ala570Thr)	MIPEP (A570T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030038	NM_005932.4(MIPEP):c.1090G>A (p.Val364Met)	MIPEP (V364M)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GUncertain significance
Select item 1030037	NM_005932.4(MIPEP):c.1088G>T (p.Gly363Val)	MIPEP (G363V)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GUncertain significance
Select item 986338	NM_005932.4(MIPEP):c.786+1G>C	MIPEP	Single nucleotide variant (splice donor variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GLikely pathogenic
Select item 931631	NM_005932.4(MIPEP):c.604C>T (p.Arg202Cys)	MIPEP (R202C)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GUncertain significance
Select item 930107	NM_005932.4(MIPEP):c.541C>T (p.Arg181Ter)	MIPEP (R181*)	Single nucleotide variant (nonsense)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GLikely pathogenic
Select item 840481	NM_005932.4(MIPEP):c.1970+2T>A	MIPEP	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 781832	NM_005932.4(MIPEP):c.1728+7A>G	MIPEP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 634482	NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr)	MIPEP (M557T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 587593	NM_005932.4(MIPEP):c.1679G>A (p.Arg560His)	MIPEP (R560H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 584455	Single allele	LOC130009384, LOC130009385 +1 more	Deletion	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GLikely pathogenic
Select item 584454	NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn)	MIPEP (D120N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 584431	NM_005932.4(MIPEP):c.787-51_993-181del	LOC130009386, MIPEP	Deletion (splice acceptor variant +1 more)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GPathogenic
Select item 584430	NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp)	MIPEP (L162W)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GUncertain significance
Select item 505364	NM_005932.4(MIPEP):c.590T>C (p.Leu197Pro)	MIPEP (L197P)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 392943	NM_005932.4(MIPEP):c.2045G>A (p.Gly682Asp)	MIPEP (G682D)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +2 more	GUncertain significance
Select item 208633	NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)	MIPEP (H512D)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +3 more	GConflicting classifications of pathogenicity
Select item 208632	NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu)	MIPEP (K343E)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 208631	NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter)	MIPEP (E602*)	Single nucleotide variant (nonsense)	Cardiomyopathy +2 more	GPathogenic
Select item 208630	NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe)	MIPEP (L306F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 208629	NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln)	MIPEP (L71Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 208628	NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg)	MIPEP (L582R)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance

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Items: 37