"ITMI"[submitter] AND "NOTCH2"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134987	NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)	NOTCH2 (L2408H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +5 more	GBenign/Likely benign
Select item 134986	NM_024408.4(NOTCH2):c.7209T>A (p.Ser2403Arg)	NOTCH2 (S2403R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134984	NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly)	NOTCH2 (A2397G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 134983	NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala)	NOTCH2 (P2359A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 134982	NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala)	NOTCH2 (T2327A)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GConflicting classifications of pathogenicity
Select item 134981	NM_024408.4(NOTCH2):c.6974A>G (p.Gln2325Arg)	NOTCH2 (Q2325R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134985	NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met)	NOTCH2 (V2075M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 134980	NM_024408.4(NOTCH2):c.5314G>A (p.Glu1772Lys)	NOTCH2 (E1772K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134979	NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr)	NOTCH2 (A1721T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GConflicting classifications of pathogenicity
Select item 134978	NM_024408.4(NOTCH2):c.5065A>T (p.Ile1689Phe)	NOTCH2 (I1689F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 134977	NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile)	NOTCH2 (V1667I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 134976	NM_024408.4(NOTCH2):c.4820G>A (p.Arg1607His)	NOTCH2 (R1607H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 134975	NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His)	NOTCH2 (L1413H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 134974	NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp)	NOTCH2 (R1372W)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 134973	NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His)	NOTCH2 (R1332H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 134972	NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly)	NOTCH2 (D1327G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 134971	NM_024408.4(NOTCH2):c.3779G>A (p.Arg1260His)	NOTCH2 (R1260H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GBenign
Select item 134970	NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr)	NOTCH2 (H1234Y)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 134967	NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val)	NOTCH2 (F1209V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 134966	NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser)	NOTCH2 (G1130S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 134965	NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)	NOTCH2 (R1069Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 134964	NM_024408.4(NOTCH2):c.3143G>A (p.Arg1048His)	NOTCH2 (R1048H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 134963	NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val)	NOTCH2 (A862V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 134962	NM_024408.4(NOTCH2):c.2573C>G (p.Thr858Ser)	NOTCH2 (T858S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 133368	NM_024408.4(NOTCH2):c.2479+225A>G	NOTCH2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133369	NM_024408.4(NOTCH2):c.2479+149C>G	NOTCH2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133370	NM_024408.4(NOTCH2):c.2479+34G>A	NOTCH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 134961	NM_024408.4(NOTCH2):c.2042T>A (p.Ile681Asn)	NOTCH2 (I681N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 134969	NM_024408.4(NOTCH2):c.1517A>G (p.Asn506Ser)	NOTCH2 (N506S)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 134968	NM_024408.4(NOTCH2):c.1396C>A (p.Gln466Lys)	NOTCH2 (Q466K)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GBenign/Likely benign

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Items: 30