"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NOTCH2"[ge - ClinVar

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Items: 60

	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)	NOTCH2-related condition +5 more	GBenign/Likely benign
Select item 2639040	NM_024408.4(NOTCH2):c.7120C>G (p.His2374Asp)	NOTCH2 (H2374D)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 134983	NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala)	NOTCH2 (P2359A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 498688	NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3067701	NM_024408.4(NOTCH2):c.6918T>G (p.Thr2306=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639041	NM_024408.4(NOTCH2):c.6881T>C (p.Ile2294Thr)	NOTCH2 (I2294T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374548	NM_024408.4(NOTCH2):c.6837T>C (p.His2279=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 499864	NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His)	NOTCH2 (R2256H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +4 more	GUncertain significance
Select item 196926	NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys)	NOTCH2 (R2256C)	Single nucleotide variant (missense variant)	NOTCH2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1992537	NM_024408.4(NOTCH2):c.6498C>T (p.Ser2166=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 288692	NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2639042	NM_024408.4(NOTCH2):c.6363G>A (p.Lys2121=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 291023	NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)	NOTCH2 (K2121N)	Single nucleotide variant (missense variant)	NOTCH2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 134985	NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met)	NOTCH2 (V2075M)	Single nucleotide variant (missense variant)	NOTCH2-related condition +4 more	GBenign/Likely benign
Select item 2639043	NM_024408.4(NOTCH2):c.6106C>T (p.Arg2036Ter)	NOTCH2 (R2036*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 286650	NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn)	NOTCH2 (H2032N)	Single nucleotide variant (missense variant)	NOTCH2-related condition +3 more	GBenign/Likely benign
Select item 872434	NM_024408.4(NOTCH2):c.5983_5984del (p.Leu1995fs)	NOTCH2 (L1995fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2639044	NM_024408.4(NOTCH2):c.5795A>G (p.Asn1932Ser)	NOTCH2 (N1932S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623701	NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys)	NOTCH2 (R1911C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1334985	NM_024408.4(NOTCH2):c.5276T>C (p.Val1759Ala)	NOTCH2 (V1759A)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 134977	NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile)	NOTCH2 (V1667I)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +3 more	GBenign/Likely benign
Select item 2570731	NM_024408.4(NOTCH2):c.4860-164A>G	NOTCH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2639045	NM_024408.4(NOTCH2):c.4859+191G>A	NOTCH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2639046	NM_024408.4(NOTCH2):c.4859+54G>C	NOTCH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 806200	NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg)	NOTCH2 (S1564R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 134975	NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His)	NOTCH2 (L1413H)	Single nucleotide variant (missense variant)	NOTCH2-related condition +3 more	GBenign/Likely benign
Select item 1570869	NM_024408.4(NOTCH2):c.4113C>G (p.Pro1371=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3002698	NM_024408.4(NOTCH2):c.4077C>T (p.His1359=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 806201	NM_024408.4(NOTCH2):c.3913G>A (p.Val1305Ile)	NOTCH2 (V1305I)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GLikely benign
Select item 134971	NM_024408.4(NOTCH2):c.3779G>A (p.Arg1260His)	NOTCH2 (R1260H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 134967	NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val)	NOTCH2 (F1209V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 463173	NM_024408.4(NOTCH2):c.3441G>A (p.Glu1147=)	NOTCH2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1905704	NM_024408.4(NOTCH2):c.3144C>T (p.Arg1048=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related condition +2 more	GLikely benign
Select item 2037895	NM_024408.4(NOTCH2):c.2796T>G (p.Thr932=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 134963	NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val)	NOTCH2 (A862V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2639047	NM_024408.4(NOTCH2):c.2479+230A>C	NOTCH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2201740	NM_024408.4(NOTCH2):c.2451C>T (p.Tyr817=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 546607	NM_024408.4(NOTCH2):c.1677C>A (p.Ala559=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 134968	NM_024408.4(NOTCH2):c.1396C>A (p.Gln466Lys)	NOTCH2 (Q466K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 463169	NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr)	NOTCH2 (A439T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 806202	NM_024408.4(NOTCH2):c.1079_1081del (p.Phe360del)	NOTCH2 (F360del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1176201	NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +3 more	GLikely benign
Select item 596064	NM_024408.4(NOTCH2):c.786T>C (p.Asp262=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2639048	NM_024408.4(NOTCH2):c.751+289G>C	NOTCH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2639049	NM_024408.4(NOTCH2):c.751+6G>C	NOTCH2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2639050	NM_024408.4(NOTCH2):c.728C>G (p.Thr243Ser)	NOTCH2 (T243S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034043	NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala)	NOTCH2 (G240A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 2639051	NM_024408.4(NOTCH2):c.703A>T (p.Thr235Ser)	NOTCH2 (T235S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639052	NM_024408.4(NOTCH2):c.684A>G (p.Ser228=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639053	NM_024408.4(NOTCH2):c.516A>G (p.Thr172=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1270095	NM_024408.4(NOTCH2):c.435G>A (p.Thr145=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2639054	NM_024408.4(NOTCH2):c.434C>T (p.Thr145Met)	NOTCH2 (T145M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 374549	NM_024408.4(NOTCH2):c.390G>A (p.Glu130=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 801537	NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu)	NOTCH2 (R91L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2639055	NM_024408.4(NOTCH2):c.203G>A (p.Cys68Tyr)	NOTCH2 (C68Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639056	NM_024408.4(NOTCH2):c.144A>G (p.Thr48=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 801539	NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter)	NOTCH2 (R29*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1013526	NM_024408.4(NOTCH2):c.57C>T (p.Cys19=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2502379	GRCh37/hg19 1p12-11.2(chr1:120546301-120608823)x1	NOTCH2	Copy number loss	not provided	GUncertain significance

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Items: 60