C4551768[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709435	NM_000435.3(NOTCH3):c.4298_4299delinsAT (p.Cys1433Tyr)	NOTCH3 (C1433Y)	Indel (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1709822	NM_000435.3(NOTCH3):c.3945C>G (p.Cys1315Trp)	NOTCH3 (C1315W)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 1709237	NM_000435.3(NOTCH3):c.3782G>A (p.Cys1261Tyr)	NOTCH3 (C1261Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 216972	NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)	NOTCH3 (R1231C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 447827	NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys)	NOTCH3 (R1031C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1709532	NM_000435.3(NOTCH3):c.2963G>A (p.Cys988Tyr)	NOTCH3 (C988Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 447819	NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys)	NOTCH3 (R985C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1709076	NM_000435.3(NOTCH3):c.2815T>C (p.Cys939Arg)	NOTCH3 (C939R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 1709940	NM_000435.3(NOTCH3):c.2353C>T (p.Arg785Cys)	NOTCH3 (R785C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 1709853	NM_000435.3(NOTCH3):c.2188A>C (p.Ser730Arg)	NOTCH3 (S730R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1687431	NM_000435.3(NOTCH3):c.2142C>T (p.Gly714=)	NOTCH3	Single nucleotide variant (synonymous variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 447794	NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	NOTCH3 (R558C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +5 more	GPathogenic/Likely pathogenic
Select item 1708950	NM_000435.3(NOTCH3):c.1427G>A (p.Ser476Asn)	NOTCH3 (S476N)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1709399	NM_000435.3(NOTCH3):c.1303T>C (p.Cys435Arg)	NOTCH3 (C435R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1709971	NM_000435.3(NOTCH3):c.699T>G (p.Cys233Trp)	NOTCH3 (C233W)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 1709694	NM_000435.3(NOTCH3):c.547T>A (p.Cys183Ser)	NOTCH3 (C183S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 9220	NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)	NOTCH3 (R182C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GPathogenic
Select item 810776	NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg)	NOTCH3 (C174R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 9219	NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	NOTCH3 (R169C)	Single nucleotide variant (missense variant)	NOTCH3-related disorder +4 more	GPathogenic
Select item 447846	NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)	NOTCH3 (R141C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1709163	NM_000435.3(NOTCH3):c.298G>A (p.Gly100Ser)	NOTCH3 (G100S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1709613	NM_000435.3(NOTCH3):c.231_248del (p.Gln77_Cys82del)	NOTCH3	Deletion (inframe_deletion)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic

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Items: 22