Related gene-specific medical variations for Gene (Select 4853) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065552	NM_024408.4(NOTCH2):c.2855_2858del (p.Glu952fs)	NOTCH2 (E952fs)	Deletion (frameshift variant)	Hajdu-Cheney syndrome	GLikely pathogenic
Select item 3062308	NM_024408.4(NOTCH2):c.6139del (p.Arg2047fs)	NOTCH2 (R2047fs)	Deletion (frameshift variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GLikely pathogenic
Select item 3061954	NM_024408.4(NOTCH2):c.337C>T (p.Arg113Ter)	NOTCH2 (R113*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome	GLikely pathogenic
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 2582733	NM_024408.4(NOTCH2):c.4747T>C (p.Ser1583Pro)	NOTCH2 (S1583P)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GUncertain significance
Select item 2582390	NM_024408.4(NOTCH2):c.1492T>C (p.Cys498Arg)	NOTCH2 (C498R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GLikely pathogenic
Select item 2502379	GRCh37/hg19 1p12-11.2(chr1:120546301-120608823)x1	NOTCH2	Copy number loss	not provided	GUncertain significance
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 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 2434396	NM_024408.4(NOTCH2):c.3978T>G (p.Pro1326=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	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 2434393	NM_024408.4(NOTCH2):c.2345C>T (p.Thr782Ile)	NOTCH2 (T782I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676452	NM_024408.4(NOTCH2):c.6160A>T (p.Met2054Leu)	NOTCH2 (M2054L)	Single nucleotide variant	not provided	GUncertain significance
Select item 1344880	NM_024408.4(NOTCH2):c.1211C>T (p.Pro404Leu)	NOTCH2 (P404L)	Single nucleotide variant (missense variant)	Keratoacanthoma	GPathogenic
Select item 1344877	NM_024408.4(NOTCH2):c.1243G>A (p.Asp415Asn)	NOTCH2 (D415N)	Single nucleotide variant (missense variant)	Keratoacanthoma	GPathogenic
Select item 1344580	NM_024408.4(NOTCH2):c.30G>A (p.Trp10Ter)	NOTCH2 (W10*)	Single nucleotide variant (nonsense)	KA-like vemurafenib-induced squamous lesions	GPathogenic
Select item 1323369	NM_024408.4(NOTCH2):c.5422dup (p.Thr1808fs)	NOTCH2 (T1808fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1291344	NM_024408.4(NOTCH2):c.2600-112C>G	LOC111776218, NOTCH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224355	NM_024408.4(NOTCH2):c.4421A>T (p.Asp1474Val)	NOTCH2 (D1474V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012187	NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr)	NOTCH2 (M2042T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GPathogenic
Select item 931169	NM_024408.4(NOTCH2):c.5327T>C (p.Leu1776Ser)	NOTCH2 (L1776S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GUncertain significance
Select item 684619	NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr)	NOTCH2 (H1882Y)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GPathogenic
Select item 684618	NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu)	NOTCH2 (S1741L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GPathogenic
Select item 591762	NM_024408.4(NOTCH2):c.18del (p.Ala7fs)	NOTCH2 (A7fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591749	NM_024408.4(NOTCH2):c.3934C>T (p.Pro1312Ser)	NOTCH2 (P1312S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591347	NM_024408.4(NOTCH2):c.7391ACA[2] (p.Asn2466del)	NOTCH2 (N2466del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 565146	GRCh37/hg19 1p12-11.2(chr1:120524159-120611245)x1	NOTCH2	Copy number loss	not provided	GUncertain significance
Select item 546608	NM_024408.4(NOTCH2):c.1663G>A (p.Glu555Lys)	NOTCH2 (E555K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445811	NM_024408.4(NOTCH2):c.660C>A (p.Ser220Arg)	NOTCH2 (S220R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 443766	GRCh37/hg19 1p12-11.2(chr1:120553489-120611245)x1	NOTCH2	Copy number loss	See cases	GUncertain significance
Select item 374549	NM_024408.4(NOTCH2):c.390G>A (p.Glu130=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 155474	GRCh38/hg38 1p12(chr1:120007131-120068631)x1	NOTCH2	Copy number loss	See cases	GUncertain significance
Select item 153794	GRCh38/hg38 1p12(chr1:119999434-120090834)x3	NOTCH2	Copy number gain	See cases	GUncertain significance
Select item 153141	GRCh38/hg38 1p12(chr1:120007131-120090834)x1	NOTCH2	Copy number loss	See cases	GUncertain significance
Select item 145683	GRCh38/hg38 1p12(chr1:120026791-120092791)x3	NOTCH2	Copy number gain	See cases	GBenign
Select item 144785	GRCh38/hg38 1p12(chr1:120014117-120092791)x3	NOTCH2	Copy number gain	See cases	GBenign
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 134981	NM_024408.4(NOTCH2):c.6974A>G (p.Gln2325Arg)	NOTCH2 (Q2325R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
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 133369	NM_024408.4(NOTCH2):c.2479+149C>G	NOTCH2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133368	NM_024408.4(NOTCH2):c.2479+225A>G	NOTCH2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 30056	NOTCH2, 1-BP DEL, 6460T	NOTCH2	Deletion	Hajdu-Cheney syndrome	GPathogenic

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Links from Gene

Items: 43