"Revvity Omics, Revvity"[submitter] AND "NOTCH2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 591347	NM_024408.4(NOTCH2):c.7391ACA[2] (p.Asn2466del)	NOTCH2 (N2466del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 594888	NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr)	NOTCH2 (A2188T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +3 more	GUncertain significance
Select item 1955901	NM_024408.4(NOTCH2):c.6314G>A (p.Arg2105Gln)	NOTCH2 (R2105Q)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 2434394	NM_024408.4(NOTCH2):c.6208A>C (p.Ser2070Arg)	NOTCH2 (S2070R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1323369	NM_024408.4(NOTCH2):c.5422dup (p.Thr1808fs)	NOTCH2 (T1808fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2434400	NM_024408.4(NOTCH2):c.5324C>T (p.Ala1775Val)	NOTCH2 (A1775V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985859	NM_024408.4(NOTCH2):c.4732C>T (p.Arg1578Cys)	NOTCH2 (R1578C)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 290899	NM_024408.4(NOTCH2):c.4699C>T (p.Arg1567Trp)	NOTCH2 (R1567W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2434397	NM_024408.4(NOTCH2):c.4675C>G (p.Leu1559Val)	NOTCH2 (L1559V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2689595	NM_024408.4(NOTCH2):c.4462G>A (p.Glu1488Lys)	NOTCH2 (E1488K)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 593827	NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg)	NOTCH2 (H1390R)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +4 more	GUncertain significance
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 1941295	NM_024408.4(NOTCH2):c.4094G>A (p.Arg1365His)	NOTCH2 (R1365H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 2434396	NM_024408.4(NOTCH2):c.3978T>G (p.Pro1326=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2434399	NM_024408.4(NOTCH2):c.3692G>C (p.Arg1231Pro)	NOTCH2 (R1231P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434398	NM_024408.4(NOTCH2):c.3523-5G>A	NOTCH2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1508840	NM_024408.4(NOTCH2):c.3319A>G (p.Ile1107Val)	NOTCH2 (I1107V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 593417	NM_024408.4(NOTCH2):c.3014G>A (p.Gly1005Glu)	NOTCH2 (G1005E)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 596709	NM_024408.4(NOTCH2):c.2816C>T (p.Pro939Leu)	NOTCH2 (P939L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 502601	NM_024408.4(NOTCH2):c.2606G>A (p.Arg869Gln)	NOTCH2 (R869Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2434393	NM_024408.4(NOTCH2):c.2345C>T (p.Thr782Ile)	NOTCH2 (T782I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689596	NM_024408.4(NOTCH2):c.2238T>G (p.Asp746Glu)	NOTCH2 (D746E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028814	NM_024408.4(NOTCH2):c.686C>A (p.Pro229His)	NOTCH2 (P229H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance

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Items: 24