"PreventionGenetics, part of Exact Sciences"[submitter] AND "ISL1"[gen - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2636623	NM_002202.3(ISL1):c.38T>A (p.Leu13Gln)	ISL1 (L13Q)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3032368	NM_002202.3(ISL1):c.48A>G (p.Leu16=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3029087	NM_002202.3(ISL1):c.219-4A>G	ISL1	Single nucleotide variant (intron variant)	ISL1-related disorder	GLikely benign
Select item 3049528	NM_002202.3(ISL1):c.219-3C>T	ISL1	Single nucleotide variant (intron variant)	ISL1-related disorder	GLikely benign
Select item 3036423	NM_002202.3(ISL1):c.276G>A (p.Val92=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3035262	NM_002202.3(ISL1):c.345C>T (p.Ile115=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3030264	NM_002202.3(ISL1):c.408G>T (p.Val136=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2634970	NM_002202.3(ISL1):c.428C>G (p.Ala143Gly)	ISL1 (A143G)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3036549	NM_002202.3(ISL1):c.436C>A (p.Pro146Thr)	ISL1 (P146T)	Single nucleotide variant (missense variant)	ISL1-related disorder	GLikely benign
Select item 3048762	NM_002202.3(ISL1):c.459G>T (p.Ala153=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3060342	NM_002202.3(ISL1):c.504A>G (p.Pro168=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GBenign
Select item 2631945	NM_002202.3(ISL1):c.526A>G (p.Lys176Glu)	ISL1 (K176E)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 2636127	NM_002202.3(ISL1):c.541A>T (p.Thr181Ser)	ISL1 (T181S)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3047671	NM_002202.3(ISL1):c.582C>T (p.His194=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2214974	NM_002202.3(ISL1):c.622G>T (p.Ala208Ser)	ISL1 (A208S)	Single nucleotide variant (missense variant)	ISL1-related disorder +1 more	GUncertain significance
Select item 3031231	NM_002202.3(ISL1):c.636G>A (p.Glu212=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3031954	NM_002202.3(ISL1):c.715C>A (p.Arg239=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2633978	NM_002202.3(ISL1):c.755A>G (p.Asn252Ser)	ISL1 (N252S)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 714089	NM_002202.3(ISL1):c.766-10C>T	ISL1	Single nucleotide variant (intron variant)	ISL1-related disorder +1 more	GLikely benign
Select item 2635554	NM_002202.3(ISL1):c.869C>T (p.Pro290Leu)	ISL1 (P290L)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 2634079	NM_002202.3(ISL1):c.907A>C (p.Ile303Leu)	ISL1 (I303L)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3046764	NM_002202.3(ISL1):c.957G>A (p.Pro319=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2634326	NM_002202.3(ISL1):c.985G>A (p.Ala329Thr)	ISL1 (A329T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3045283	NM_002202.3(ISL1):c.1023C>T (p.Ser341=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2636063	NM_002202.3(ISL1):c.1024A>G (p.Met342Val)	ISL1 (M342V)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance

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Items: 25