"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MIPEP"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813660	NM_005932.4(MIPEP):c.1984C>T (p.Arg662Cys)	MIPEP (R662C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 770419	NM_005932.4(MIPEP):c.1977C>T (p.Ala659=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 757963	NM_005932.4(MIPEP):c.1924G>A (p.Ala642Thr)	MIPEP (A642T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2138400	NM_005932.4(MIPEP):c.1881G>A (p.Gly627=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2460677	NM_005932.4(MIPEP):c.1240A>G (p.Ser414Gly)	MIPEP (S414G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 870675	NM_005932.4(MIPEP):c.1137_1138insC (p.Phe380fs)	MIPEP (F380fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 726252	NM_005932.4(MIPEP):c.927G>A (p.Thr309=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787177	NM_005932.4(MIPEP):c.804T>C (p.Tyr268=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 787940	NM_005932.4(MIPEP):c.671A>G (p.Asn224Ser)	MIPEP (N224S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 505364	NM_005932.4(MIPEP):c.590T>C (p.Leu197Pro)	MIPEP (L197P)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +3 more	GConflicting classifications of pathogenicity
Select item 806993	NM_005932.4(MIPEP):c.104G>T (p.Arg35Met)	MIPEP, PCOTH (R35M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance