ClinVar for MedGen (Select 6969) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570687	NM_005245.4(FAT1):c.11518G>A (p.Val3840Met)	FAT1 (V3840M)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +4 more	GUncertain significance
Select item 2570686	NM_005245.4(FAT1):c.10513A>T (p.Arg3505Trp)	FAT1 (R3505W)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +4 more	GUncertain significance
Select item 2504113	NM_006587.4(CORIN):c.684dup (p.Met229fs)	CORIN (M162fs +1 more)	Duplication (frameshift variant)	Cardiomyopathy +3 more	GPathogenic
Select item 1802158	NM_018122.5(DARS2):c.[228-10C>A];[492+2T>C]			Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GPathogenic
Select item 1338787	NM_173598.6(KSR2):c.2512C>T (p.Arg838Cys)	KSR2 (R838C)	Single nucleotide variant (missense variant)	Obesity +5 more	GUncertain significance
Select item 827676	NM_006554.5(MTX2):c.295_296del (p.Ser98_Leu99insTer)	MTX2	Microsatellite (nonsense)	Mandibuloacral dysplasia progeroid syndrome +10 more	GPathogenic
Select item 633595	NM_033440.3(CELA2A):c.209C>T (p.Thr70Met)	CELA2A (T70M)	Single nucleotide variant (missense variant)	CELA2A-related condition +1 more	GPathogenic/Likely pathogenic
Select item 633594	NM_033440.3(CELA2A):c.639+1G>C	CELA2A	Single nucleotide variant (splice donor variant)	Abdominal obesity-metabolic syndrome 4 +4 more	GPathogenic
Select item 633593	NM_033440.3(CELA2A):c.253C>A (p.Leu85Met)	CELA2A (L85M)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 4 +4 more	GPathogenic
Select item 633592	NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn)	CELA2A (D121N)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 4 +4 more	GPathogenic
Select item 523533	NM_022489.4(INF2):c.658G>A (p.Glu220Lys)	INF2 (E220K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +6 more	GPathogenic/Likely pathogenic
Select item 523453	NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly)	MYH9 (D1424G)	Single nucleotide variant (missense variant)	MYH9-related disorder +10 more	GLikely pathogenic
Select item 523324	NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)	COL4A4 (G1465D)	Single nucleotide variant (missense variant)	Hypertensive disorder +8 more	GConflicting classifications of pathogenicity
Select item 523249	GRCh37/hg19 15q11.2(chr15:22765628-23300287)	CYFIP1, NIPA1 +2 more	Copy number loss	Numerous pigmented freckles +9 more	GPathogenic
Select item 424759	NM_000092.4(COL4A4):c.[1320_1369+2del];[2320G>C]			Autosomal recessive Alport syndrome	GPathogenic
Select item 374187	NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg)	PKD1, PKD1-AS1 (W3842R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 374107	NM_001370259.2(MEN1):c.654+1del	MEN1	Deletion (splice donor variant +1 more)	Hypertensive disorder +5 more	GPathogenic
Select item 374102	NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)	PKD1 (Q1174*)	Single nucleotide variant (nonsense)	PKD1-related condition +3 more	GPathogenic
Select item 374097	NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	PKD1 (E2771K)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +4 more	GPathogenic/Likely pathogenic
Select item 374044	NM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp)	PKD1 (V3062D)	Single nucleotide variant (missense variant)	Hypertensive disorder +4 more	GLikely pathogenic
Select item 374041	NM_000092.5(COL4A4):c.3055G>C (p.Glu1019Gln)	COL4A4 (E1019Q)	Single nucleotide variant (missense variant)	Hypertensive disorder +3 more	GUncertain significance
Select item 373955	NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs)	LOC129992813, PKD2 (P120fs)	Indel (frameshift variant +1 more)	Polycystic kidney disease 2 +3 more	GPathogenic
Select item 255039	NM_000092.5(COL4A4):c.4217-15T>C	COL4A4	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 242442	NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)	COL4A4 (G774R)	Single nucleotide variant (missense variant)	Hematuria +8 more	GConflicting classifications of pathogenicity
Select item 199044	NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)	GBA1, LOC106627981 (E365K +2 more)	Single nucleotide variant (missense variant)	not specified +13 more	GBenign/Likely benign; risk factor
Select item 24455	NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	COL4A5 (G624D)	Single nucleotide variant (missense variant)	COL4A5-related condition +5 more	GPathogenic/Likely pathogenic
Select item 18068	NM_000029.4(AGT):c.803T>C (p.Met268Thr)	AGT	Single nucleotide variant	Renal tubular dysgenesis +2 more	GBenign
Select item 4299	NM_001005741.2(GBA1):c.[535G>C;c.1093G>A]	GBA1, LOC106627981 (E365K +5 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GPathogenic
Select item 1170	NM_000505.4(F12):c.983C>G (p.Thr328Arg)	F12 (T328R)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +4 more	GPathogenic
Select item 1062	NM_018122.5(DARS2):c.492+2T>C	DARS2	Single nucleotide variant (splice donor variant)	Gout +15 more	GPathogenic
Select item 1057	NM_018122.5(DARS2):c.228-21_228-20delinsC	DARS2	Indel (intron variant)	Gout +14 more	GPathogenic

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Items: 32