ClinVar for MedGen (Select 41447) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1301538	NM_033305.3(VPS13A):c.9257T>C (p.Met3086Thr)	VPS13A (M3047T +1 more)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1301537	NM_006031.6(PCNT):c.2179C>G (p.His727Asp)	PCNT (H609D +1 more)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1301536	NM_000311.5(PRNP):c.713C>T (p.Pro238Leu)	PRNP (P238L)	Single nucleotide variant (missense variant +1 more)	Vascular dementia	GUncertain significance
Select item 1301535	NM_001733.7(C1R):c.674G>A (p.Arg225Gln)	C1R (R225Q +1 more)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1301534	NM_013444.4(UBQLN2):c.304A>G (p.Ile102Val)	UBQLN2 (I102V)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1301533	NM_024656.4(COLGALT1):c.1411C>T (p.Arg471Trp)	COLGALT1 (R471W)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1301532	NM_015039.4(NMNAT2):c.427G>A (p.Val143Met)	NMNAT2 (V138M +1 more)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1301531	NM_001257180.2(SLC20A2):c.1858C>T (p.Arg620Trp)	SLC20A2 (R620W)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1301530	NM_001069.3(TUBB2A):c.1309G>A (p.Glu437Lys)	TUBB2A (E352K +1 more)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1301529	NM_015268.4(DNAJC13):c.1036C>G (p.Leu346Val)	DNAJC13 (L346V)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1301528	NM_000345.4(SNCA):c.370G>T (p.Ala124Ser)	SNCA (A124S +1 more)	Single nucleotide variant (missense variant +2 more)	Vascular dementia	GUncertain significance
Select item 1301527	NM_018676.4(THSD1):c.1619dup (p.Met540fs)	THSD1 (M487fs +1 more)	Duplication (frameshift variant)	Vascular dementia	GUncertain significance
Select item 1301526	NM_005957.5(MTHFR):c.938G>C (p.Gly313Ala)	MTHFR (G313A +1 more)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1301525	NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu)	DIAPH1 (F356L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1301524	NM_001134407.3(GRIN2A):c.937A>G (p.Ile313Val)	GRIN2A (I313V)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1301523	NM_014043.4(CHMP2B):c.157G>C (p.Gly53Arg)	CHMP2B (G12R +1 more)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1301522	NM_001845.6(COL4A1):c.*36T>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Vascular dementia	GUncertain significance
Select item 1184940	NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg)	HTRA1 (G283R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 943552	NM_005359.6(SMAD4):c.1060G>A (p.Val354Met)	SMAD4 (V354M)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 872951	NM_001134232.2(TMEM106B):c.115G>C (p.Asp39His)	TMEM106B (D39H)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 872950	NM_000447.3(PSEN2):c.53C>T (p.Thr18Met)	PSEN2 (T18M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 872949	NM_006172.4(NPPA):c.377G>A (p.Arg126Gln)	LOC114827827, NPPA +1 more (R126Q)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6	GUncertain significance
Select item 872948	NM_000435.3(NOTCH3):c.323G>A (p.Cys108Tyr)	NOTCH3 (C108Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 872947	NM_021999.5(ITM2B):c.193C>T (p.Leu65Phe)	ITM2B (L65F)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 872946	NM_001845.6(COL4A1):c.401C>T (p.Pro134Leu)	COL4A1 (P134L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 872945	NM_001845.6(COL4A1):c.2440G>A (p.Gly814Arg)	COL4A1 (G814R)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 872944	NM_031443.4(CCM2):c.1283T>G (p.Ile428Ser)	CCM2 (I337S +5 more)	Single nucleotide variant (missense variant +1 more)	Vascular dementia	GUncertain significance
Select item 872943	NM_194454.3(KRIT1):c.1565T>C (p.Ile522Thr)	KRIT1 (I284T +2 more)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 804628	NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)	NOTCH3 (R717C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 650820	NM_031443.4(CCM2):c.328G>A (p.Asp110Asn)	CCM2 (D110N +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 625897	NM_001733.7(C1R):c.336G>C (p.Met112Ile)	C1R (M112I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 624024	NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys)	ATRIP, ATRIP-TREX1 +1 more (Y305C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GUncertain significance
Select item 585430	NM_000484.4(APP):c.1795G>A (p.Glu599Lys)	APP (E599K +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 535987	NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn)	TSC2 (D1478N +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 434559	NM_001127222.2(CACNA1A):c.1348T>C (p.Ser450Pro)	CACNA1A (S451P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 424706	NM_002775.4(HTRA1):c.[126delG];[961G>A]			CARASIL syndrome	GPathogenic
Select item 206519	NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)	POLGARF, POLG (N740D)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +7 more	GUncertain significance
Select item 180746	NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr)	HTRA1 (A321T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 71669	NM_001846.4(COL4A2):c.4291C>T (p.Arg1431Cys)	COL4A2, COL4A2-AS1 (R1431C)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance

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Items: 39