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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1507275	NM_213595.4(ISCU):c.22C>T (p.Arg8Cys)	ISCU (R8C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1406161	NM_213595.4(ISCU):c.32G>C (p.Arg11Pro)	ISCU (R11P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1414279	NM_213595.4(ISCU):c.38C>T (p.Ala13Val)	ISCU (A13V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2344077	NM_213595.4(ISCU):c.43G>A (p.Ala15Thr)	ISCU (A15T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 377979	NM_213595.4(ISCU):c.52C>A (p.Leu18Met)	ISCU (L18M)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2310629	NM_213595.4(ISCU):c.59G>T (p.Ser20Ile)	ISCU (S20I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2256831	NM_213595.4(ISCU):c.85T>G (p.Ser29Ala)	ISCU, LOC130008688 (S29A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1359255	NM_213595.4(ISCU):c.145G>A (p.Val49Met)	ISCU (V24M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3110993	NM_213595.4(ISCU):c.149G>C (p.Gly50Ala)	ISCU (G50A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3286604	NM_213595.4(ISCU):c.217A>G (p.Met73Val)	ISCU (M73V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2166601	NM_213595.4(ISCU):c.338C>T (p.Thr113Met)	ISCU (T113M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3286605	NM_213595.4(ISCU):c.363A>T (p.Lys121Asn)	ISCU (K96N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305866	NM_213595.4(ISCU):c.400G>A (p.Val134Met)	ISCU (V109M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483261	NM_213595.4(ISCU):c.442G>T (p.Ala148Ser)	ISCU (A123S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2319823	NM_213595.4(ISCU):c.445G>T (p.Ala149Ser)	ISCU (A124S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2305363	NM_213595.4(ISCU):c.494A>G (p.Glu165Gly)	ISCU (E140G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1428543	NM_213595.4(ISCU):c.498G>C (p.Lys166Asn)	ISCU (K141N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance