7883[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 152788	GRCh38/hg38 19p13.12(chr19:15112168-15191333)x1	ILVBL, ILVBL-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 328356	NM_000435.3(NOTCH3):c.*937T>C	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely benign
Select item 328357	NM_000435.3(NOTCH3):c.*890C>T	NOTCH3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328358	NM_000435.3(NOTCH3):c.*845G>T	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GBenign
Select item 328359	NM_000435.3(NOTCH3):c.*837G>A	NOTCH3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328360	NM_000435.3(NOTCH3):c.*808G>A	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GBenign
Select item 890106	NM_000435.3(NOTCH3):c.*717C>G	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 328361	NM_000435.3(NOTCH3):c.*668G>T	NOTCH3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 890107	NM_000435.3(NOTCH3):c.*656T>C	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 328362	NM_000435.3(NOTCH3):c.*608C>T	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 328363	NM_000435.3(NOTCH3):c.*563T>C	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GLikely benign
Select item 328364	NM_000435.3(NOTCH3):c.*544C>T	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GBenign
Select item 890684	NM_000435.3(NOTCH3):c.*517C>T	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 890685	NM_000435.3(NOTCH3):c.*463G>A	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GBenign
Select item 328365	NM_000435.3(NOTCH3):c.*382T>G	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 328366	NM_000435.3(NOTCH3):c.*370A>G	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GBenign
Select item 328367	NM_000435.3(NOTCH3):c.354_355dup	NOTCH3	Duplication (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 328368	NM_000435.3(NOTCH3):c.*338A>C	NOTCH3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 890686	NM_000435.3(NOTCH3):c.*306C>T	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +2 more	GUncertain significance
Select item 2649428	NM_000435.3(NOTCH3):c.286_288del	NOTCH3	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 891935	NM_000435.3(NOTCH3):c.*279C>T	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 328369	NM_000435.3(NOTCH3):c.*96C>T	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GLikely benign
Select item 891936	NM_000435.3(NOTCH3):c.*85G>T	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GBenign
Select item 328370	NM_000435.3(NOTCH3):c.*23T>A	NOTCH3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 447772	NM_000435.3(NOTCH3):c.*4G>A	NOTCH3	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 447771	NM_000435.3(NOTCH3):c.*3C>T	NOTCH3	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 3234405	NM_000435.3(NOTCH3):c.6932C>T (p.Pro2311Leu)	NOTCH3 (P2311L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2021832	NM_000435.3(NOTCH3):c.6928C>T (p.Gln2310Ter)	NOTCH3 (Q2310*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 994847	NM_000435.3(NOTCH3):c.6926C>G (p.Pro2309Arg)	NOTCH3 (P2309R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 808489	NM_000435.3(NOTCH3):c.6924G>A (p.Gly2308=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 891937	NM_000435.3(NOTCH3):c.6913A>G (p.Thr2305Ala)	NOTCH3 (T2305A)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1711469	NM_000435.3(NOTCH3):c.6905A>G (p.Gln2302Arg)	NOTCH3 (Q2302R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065353	NM_000435.3(NOTCH3):c.6904C>T (p.Gln2302Ter)	NOTCH3 (Q2302*)	Single nucleotide variant (nonsense)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 3045596	NM_000435.3(NOTCH3):c.6894C>T (p.Ser2298=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related disorder	GLikely benign
Select item 3364160	NM_000435.3(NOTCH3):c.6885_6888del (p.Val2296fs)	NOTCH3 (V2296fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2918828	NM_000435.3(NOTCH3):c.6873A>C (p.Pro2291=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 994846	NM_000435.3(NOTCH3):c.6850A>T (p.Thr2284Ser)	NOTCH3 (T2284S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2740430	NM_000435.3(NOTCH3):c.6848C>T (p.Thr2283Ile)	NOTCH3 (T2283I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2194678	NM_000435.3(NOTCH3):c.6838A>G (p.Met2280Val)	NOTCH3 (M2280V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3201386	NM_000435.3(NOTCH3):c.6833G>A (p.Gly2278Glu)	NOTCH3 (G2278E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 256154	NM_000435.3(NOTCH3):c.6813T>C (p.Pro2271=)	NOTCH3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 447870	NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met)	NOTCH3 (T2270M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 447869	NM_000435.3(NOTCH3):c.6802G>A (p.Glu2268Lys)	NOTCH3 (E2268K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2037174	NM_000435.3(NOTCH3):c.6801C>T (p.Ser2267=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133220	NM_000435.3(NOTCH3):c.6792A>C (p.Ser2264=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 994845	NM_000435.3(NOTCH3):c.6786C>T (p.Ser2262=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 889492	NM_000435.3(NOTCH3):c.6774C>T (p.Pro2258=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 889493	NM_000435.3(NOTCH3):c.6770G>A (p.Ser2257Asn)	NOTCH3 (S2257N)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 2901728	NM_000435.3(NOTCH3):c.6767C>T (p.Ala2256Val)	NOTCH3 (A2256V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718800	NM_000435.3(NOTCH3):c.6767C>G (p.Ala2256Gly)	NOTCH3 (A2256G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3201385	NM_000435.3(NOTCH3):c.6766G>T (p.Ala2256Ser)	NOTCH3 (A2256S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1506861	NM_000435.3(NOTCH3):c.6755C>T (p.Pro2252Leu)	NOTCH3 (P2252L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 256153	NM_000435.3(NOTCH3):c.6753C>T (p.Ser2251=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 774083	NM_000435.3(NOTCH3):c.6747C>T (p.Pro2249=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 224882	NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)	NOTCH3 (Y2244*)	Single nucleotide variant (nonsense)	Lateral meningocele syndrome	GPathogenic
Select item 1059338	NM_000435.3(NOTCH3):c.6705_6730del (p.Phe2235fs)	NOTCH3 (F2235fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2784694	NM_000435.3(NOTCH3):c.6727C>T (p.Pro2243Ser)	NOTCH3 (P2243S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807380	NM_000435.3(NOTCH3):c.6726C>T (p.His2242=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1505499	NM_000435.3(NOTCH3):c.6710G>T (p.Arg2237Leu)	NOTCH3 (R2237L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649429	NM_000435.3(NOTCH3):c.6709C>T (p.Arg2237Trp)	NOTCH3 (R2237W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 993938	NM_000435.3(NOTCH3):c.6709C>G (p.Arg2237Gly)	NOTCH3 (R2237G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1410158	NM_000435.3(NOTCH3):c.6701G>A (p.Arg2234His)	NOTCH3 (R2234H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864911	NM_000435.3(NOTCH3):c.6700C>T (p.Arg2234Cys)	NOTCH3 (R2234C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2434407	NM_000435.3(NOTCH3):c.6694A>G (p.Lys2232Glu)	NOTCH3 (K2232E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 224881	NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)	NOTCH3 (A2233fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 504302	NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs)	NOTCH3 (P2231fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 778982	NM_000435.3(NOTCH3):c.6684C>T (p.Ser2228=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1256540	NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln)	NOTCH3 (H2227Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 872530	NM_000435.3(NOTCH3):c.6679C>T (p.His2227Tyr)	NOTCH3 (H2227Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179365	NM_000435.3(NOTCH3):c.6668_6669delinsTT (p.Ala2223Val)	NOTCH3 (A2223V)	Indel (missense variant)	not provided	GLikely benign
Select item 728690	NM_000435.3(NOTCH3):c.6669G>T (p.Ala2223=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 256152	NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val)	NOTCH3 (A2223V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 804651	NM_000435.3(NOTCH3):c.6666G>A (p.Pro2222=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 994844	NM_000435.3(NOTCH3):c.6665C>T (p.Pro2222Leu)	NOTCH3 (P2222L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 224883	NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)	NOTCH3 (Y2221*)	Single nucleotide variant (nonsense)	Lateral meningocele syndrome +1 more	GPathogenic
Select item 3201384	NM_000435.3(NOTCH3):c.6655G>A (p.Glu2219Lys)	NOTCH3 (E2219K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 702801	NM_000435.3(NOTCH3):c.6654C>T (p.Gly2218=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2490003	NM_000435.3(NOTCH3):c.6643C>G (p.Pro2215Ala)	NOTCH3 (P2215A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2114771	NM_000435.3(NOTCH3):c.6643C>A (p.Pro2215Thr)	NOTCH3 (P2215T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867310	NM_000435.3(NOTCH3):c.6633C>T (p.Tyr2211=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 372434	NM_000435.3(NOTCH3):c.6633C>G (p.Tyr2211Ter)	NOTCH3 (Y2211*)	Single nucleotide variant (nonsense)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 811244	NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys)	NOTCH3 (Y2211C)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 1623664	NM_000435.3(NOTCH3):c.6627G>A (p.Pro2209=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694718	NM_000435.3(NOTCH3):c.6626dup (p.Pro2210fs)	NOTCH3 (P2210fs)	Duplication (frameshift variant)	Lateral meningocele syndrome	GPathogenic
Select item 702051	NM_000435.3(NOTCH3):c.6626C>T (p.Pro2209Leu)	NOTCH3 (P2209L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1805895	NM_000435.3(NOTCH3):c.6620G>A (p.Arg2207Gln)	NOTCH3 (R2207Q)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 808490	NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp)	NOTCH3 (R2207W)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 3046467	NM_000435.3(NOTCH3):c.6612G>A (p.Pro2204=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related disorder	GLikely benign
Select item 328371	NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu)	NOTCH3 (P2204L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 713631	NM_000435.3(NOTCH3):c.6603C>T (p.Pro2201=)	NOTCH3	Single nucleotide variant (synonymous variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 3201383	NM_000435.3(NOTCH3):c.6599C>G (p.Thr2200Ser)	NOTCH3 (T2200S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 705782	NM_000435.3(NOTCH3):c.6597G>A (p.Gly2199=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938313	NM_000435.3(NOTCH3):c.6587_6592dup (p.Asn2197_Pro2198insLeuAsn)	NOTCH3	Duplication (inframe_insertion)	not provided	GUncertain significance

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