ClinVar for MedGen (Select 52522) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804036	NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)	RNF213 (N38K)	Single nucleotide variant (missense variant)	Seizure +4 more	GLikely pathogenic
Select item 1708458	NM_139027.6(ADAMTS13):c.3420C>A (p.His1140Gln)	ADAMTS13 (H1109Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1708455	NM_000488.4(SERPINC1):c.1388T>C (p.Val463Ala)	SERPINC1 (V391A +6 more)	Single nucleotide variant (missense variant)	Stroke disorder	GUncertain significance
Select item 1708444	NM_000093.5(COL5A1):c.4051G>A (p.Gly1351Arg)	COL5A1 (G1351R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 1708438	NM_004444.5(EPHB4):c.1960A>T (p.Thr654Ser)	EPHB4 (T654S)	Single nucleotide variant (missense variant)	Stroke disorder	GUncertain significance
Select item 1708435	NM_001733.7(C1R):c.853C>A (p.Leu285Met)	C1R (L285M +1 more)	Single nucleotide variant (missense variant)	Stroke disorder	GUncertain significance
Select item 1708434	NM_000460.4(THPO):c.-146G>A	THPO (R92Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Stroke disorder	GUncertain significance
Select item 1708432	NM_001171.6(ABCC6):c.1068G>A (p.Met356Ile)	ABCC6 (M242I +1 more)	Single nucleotide variant (missense variant +1 more)	Stroke disorder	GUncertain significance
Select item 1708424	NM_000435.3(NOTCH3):c.2093C>G (p.Pro698Arg)	NOTCH3 (P698R)	Single nucleotide variant (missense variant)	Stroke disorder	GUncertain significance
Select item 1708420	NM_021871.4(FGA):c.475G>A (p.Val159Ile)	FGA (V159I)	Single nucleotide variant (missense variant)	Stroke disorder	GUncertain significance
Select item 1708400	NM_021871.4(FGA):c.1048G>A (p.Gly350Arg)	FGA (G350R)	Single nucleotide variant (missense variant)	Stroke disorder +1 more	GUncertain significance
Select item 1708388	NM_001001548.3(CD36):c.443T>A (p.Ile148Asn)	CD36 (I114N +2 more)	Single nucleotide variant (missense variant +3 more)	CD36-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1708387	NM_001001548.3(CD36):c.120+1G>A	CD36	Single nucleotide variant (splice donor variant +1 more)	Stroke disorder	GPathogenic
Select item 1708375	NM_000488.4(SERPINC1):c.427A>G (p.Ile143Val)	SERPINC1 (I143V +2 more)	Single nucleotide variant (missense variant +1 more)	Stroke disorder	GUncertain significance
Select item 1708317	NM_002880.4(RAF1):c.1471A>C (p.Thr491Pro)	RAF1 (T377P +5 more)	Single nucleotide variant (missense variant +1 more)	Stroke disorder	GUncertain significance
Select item 1708304	NM_005188.4(CBL):c.1190G>A (p.Gly397Glu)	CBL (G397E)	Single nucleotide variant (missense variant)	Stroke disorder	GUncertain significance
Select item 1708294	NM_001256071.3(RNF213):c.13751T>C (p.Leu4584Pro)	RNF213, RNF213-AS1 (L4584P +1 more)	Single nucleotide variant (missense variant)	Stroke disorder	GUncertain significance
Select item 1708287	NM_001256071.3(RNF213):c.2822G>T (p.Arg941Leu)	RNF213 (R941L +1 more)	Single nucleotide variant (missense variant)	Stroke disorder	GUncertain significance
Select item 1698500	NM_002693.3(POLG):c.[1760C>T;752C>T]	POLG, POLGARF (T251I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1523932	NM_001846.4(COL4A2):c.1978+4T>C	COL4A2	Single nucleotide variant (intron variant)	Stroke disorder +2 more	GUncertain significance
Select item 1442995	NM_000435.3(NOTCH3):c.5554G>A (p.Ala1852Thr)	NOTCH3 (A1852T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1431704	NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)	JAG1 (P1006L)	Single nucleotide variant (missense variant)	Stroke disorder +4 more	GConflicting classifications of pathogenicity
Select item 1332902	NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)	CBL (G415S)	Single nucleotide variant (missense variant)	Stroke disorder +3 more	GUncertain significance
Select item 1330151	NM_005188.4(CBL):c.1400T>C (p.Leu467Pro)	CBL (L467P)	Single nucleotide variant (missense variant)	Stroke disorder +2 more	GUncertain significance
Select item 1210296	NM_001110556.2(FLNA):c.4525G>A (p.Val1509Ile)	FLNA (V1509I)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +5 more	GUncertain significance
Select item 1017977	NM_006767.4(LZTR1):c.2368C>T (p.Arg790Trp)	LZTR1 (R790W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 930880	NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser)	IFIH1 (N176S)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 871826	NM_022168.4(IFIH1):c.1873C>A (p.His625Asn)	IFIH1 (H625N)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +3 more	GUncertain significance
Select item 842157	NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)	CBL (S799del)	Microsatellite (inframe_deletion)	not specified +4 more	GUncertain significance
Select item 812744	NM_000435.3(NOTCH3):c.1136G>C (p.Cys379Ser)	NOTCH3 (C379S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 805948	NC_012920.1(MT-ND4):m.12015T>C	MT-ND4	Single nucleotide variant	Seizure +1 more	GLikely benign
Select item 624458	NM_001110556.2(FLNA):c.5255T>C (p.Leu1752Pro)	FLNA (L1752P +1 more)	Single nucleotide variant (missense variant)	FLNA-related condition +6 more	GUncertain significance
Select item 585600	NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr)	NOTCH3 (C76Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 585051	NM_000501.4(ELN):c.1358-199G>A	ELN (G473S)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis +5 more	GUncertain significance
Select item 568525	NM_002474.3(MYH11):c.2062G>A (p.Gly688Ser)	MYH11 (G695S +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +5 more	GUncertain significance
Select item 534148	NM_017668.3(NDE1):c.948-39G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 523426	NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu)	RNF213, RNF213-AS1 (K3887E)	Single nucleotide variant (missense variant)	Patent foramen ovale +6 more	GUncertain significance
Select item 519975	NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn)	MYLK (D717N +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +8 more	GUncertain significance
Select item 496734	NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)	COL4A2 (G729R)	Single nucleotide variant (missense variant)	Optic nerve hypoplasia +4 more	GConflicting classifications of pathogenicity
Select item 493175	NM_001171.6(ABCC6):c.2059G>A (p.Val687Met)	ABCC6 (V687M +1 more)	Single nucleotide variant (missense variant +1 more)	Stroke disorder +4 more	GUncertain significance
Select item 447847	NM_000435.3(NOTCH3):c.432C>T (p.Cys144=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 405456	NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser)	FLNA (N1864S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 378207	NM_017668.3(NDE1):c.948-3134G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 374128	NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg)	PRKAG2 (P197R +2 more)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 372578	NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro)	SOS1 (S543P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 217414	NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)	GLA, RPL36A-HNRNPH2 (W399S)	Single nucleotide variant (missense variant +2 more)	Fabry disease +4 more	GUncertain significance
Select item 210003	NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr)	RNF213, RNF213-AS1 (K4732T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 191735	NM_033118.4(MYLK2):c.134C>T (p.Pro45Leu)	MYLK2 (P45L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 189342	NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala)	ADA2 (T119A +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GPathogenic
Select item 189300	NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)	APOB (E2566K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
Select item 45355	NM_005633.4(SOS1):c.281T>C (p.Ile94Thr)	SOS1 (I94T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 17890	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB (R3527Q)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +10 more	GPathogenic/Likely pathogenic
Select item 16382	NM_005141.4(FGB):c.130C>T (p.Arg44Cys)	FGB (R44C)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 13653	NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	PIK3CA (H1047L)	Single nucleotide variant (missense variant)	Colorectal cancer +6 more	GPathogenic
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG, POLGARF (P587L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +14 more	GConflicting classifications of pathogenicity
Select item 13503	NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	POLG, POLGARF (T251I)	Single nucleotide variant (missense variant)	not specified +15 more	GConflicting classifications of pathogenicity
Select item 9589	NC_012920.1:m.3243A>G	MT-TL1	Single nucleotide variant	Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 +12 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 condition +4 more	GPathogenic
Select item 3691	NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)	LDLR (E228K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 60