ClinVar for MedGen (Select 199687) - ClinVar - NCBI

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Items: 19

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17995691.	NM_000435.3(NOTCH3):c.849C>T (p.Asn283=) GRCh37: Chr19:15302422 GRCh38: Chr19:15191611	NOTCH3		Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	Likely benign (Oct 18, 2022)	no assertion criteria provided
Select item 12565302.	NM_000435.3(NOTCH3):c.581G>A (p.Cys194Tyr) GRCh37: Chr19:15302869 GRCh38: Chr19:15192058	NOTCH3	C194Y	not provided	Pathogenic (Apr 28, 2021)	criteria provided, single submitter
Select item 10646403.	NM_000435.3(NOTCH3):c.967T>A (p.Cys323Ser) GRCh37: Chr19:15302304 GRCh38: Chr19:15191493	NOTCH3	C323S	not provided	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 9180034.	NM_000435.3(NOTCH3):c.463T>G (p.Cys155Gly) GRCh37: Chr19:15302987 GRCh38: Chr19:15192176	NOTCH3	C155G	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	Likely pathogenic (Jan 17, 2020)	no assertion criteria provided
Select item 8432025.	NM_033629.6(TREX1):c.416del (p.Ala139fs) GRCh37: Chr3:48508470 GRCh38: Chr3:48467071	ATRIP, ATRIP-TREX1, TREX1	A129fs, A139fs	not provided, Chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1	Pathogenic (Jun 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 8084966.	NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) GRCh37: Chr19:15298024 GRCh38: Chr19:15187213	NOTCH3	R578C	NOTCH3-related condition, not provided	Pathogenic/Likely pathogenic (Jun 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 7672117.	NM_000435.3(NOTCH3):c.499C>T (p.Pro167Ser) GRCh37: Chr19:15302951 GRCh38: Chr19:15192140	NOTCH3	P167S	not provided	Benign (Feb 16, 2020)	criteria provided, multiple submitters, no conflicts
Select item 7667948.	NM_000435.3(NOTCH3):c.224G>A (p.Arg75Gln) GRCh37: Chr19:15303304 GRCh38: Chr19:15192493	NOTCH3	R75Q	not provided	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 6240249.	NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) GRCh37: Chr3:48508968 GRCh38: Chr3:48467569	TREX1, ATRIP, ATRIP-TREX1	Y305C, Y295C	TREX1-related condition, Aicardi-Goutieres syndrome 1, Chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, not provided	Conflicting interpretations of pathogenicity (Jun 27, 2023)	criteria provided, conflicting interpretations
Select item 58561110.	NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser) GRCh37: Chr19:15302870 GRCh38: Chr19:15192059	NOTCH3	C194S	not provided	Pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 54608911.	NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) GRCh37: Chr19:15298126 GRCh38: Chr19:15187315	NOTCH3	R544C	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, Myofibromatosis, infantile, 2, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Pathogenic/Likely pathogenic (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44786212.	NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) GRCh37: Chr19:15302831 GRCh38: Chr19:15192020	NOTCH3	R207C	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2, Lateral meningocele syndrome, not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Pathogenic/Likely pathogenic (Oct 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 44779113.	NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) GRCh37: Chr19:15308348 GRCh38: Chr19:15197537	NOTCH3	R54C	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, not provided	Pathogenic/Likely pathogenic (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44778814.	NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg) GRCh37: Chr19:15308354 GRCh38: Chr19:15197543	NOTCH3	G52R	not specified, not provided	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44778515.	NM_000435.3(NOTCH3):c.145T>C (p.Cys49Arg) GRCh37: Chr19:15308363 GRCh38: Chr19:15197552	NOTCH3	C49R	not provided	Pathogenic (Nov 10, 2016)	criteria provided, single submitter
Select item 44778216.	NM_000435.3(NOTCH3):c.133G>C (p.Asp45His) GRCh37: Chr19:15308375 GRCh38: Chr19:15197564	NOTCH3	D45H	not provided, not specified	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32841617.	NM_000435.3(NOTCH3):c.825G>A (p.Val275=) GRCh37: Chr19:15302446 GRCh38: Chr19:15191635	NOTCH3		not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2, Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Benign/Likely benign (Sep 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32840918.	NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr) GRCh37: Chr19:15298066 GRCh38: Chr19:15187255	NOTCH3	A564T	not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Benign/Likely benign (May 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25611919.	NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) GRCh37: Chr19:15308388 GRCh38: Chr19:15197577	NOTCH3		not provided, not specified	Benign/Likely benign (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts