ClinVar for MedGen (Select 66079) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502848	NC_000017.11:g.45982995A>G	MAPT	Single nucleotide variant	Parkinsonian disorder	GUncertain significance
Select item 1687738	NM_002087.4(GRN):c.52A>G (p.Thr18Ala)	GRN (T18A)	Single nucleotide variant (missense variant)	Parkinsonian disorder	GPathogenic
Select item 523569	NM_198994.3(TGM6):c.76C>T (p.Pro26Ser)	TGM6 (P26S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +5 more	GUncertain significance
Select item 523454	NM_002609.4(PDGFRB):c.3241G>A (p.Glu1081Lys)	PDGFRB (E1081K +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +1 more	GUncertain significance
Select item 493050	NM_000157.4(GBA1):c.1279G>A (p.Glu427Lys)	GBA1, LOC106627981 (E427K +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 481777	NM_005591.4(MRE11):c.229G>A (p.Glu77Lys)	MRE11 (E77K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 453052	NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp)	DCTN1 (R188W +6 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +5 more	GConflicting classifications of pathogenicity
Select item 424819	NM_000157.3(GBA1):c.[1448T>C];[167T>G]			Gaucher disease type I	GLikely pathogenic
Select item 424818	NM_000157.3(GBA1):c.[1448T>C];[407C>T]			Gaucher disease type I	GLikely pathogenic
Select item 375734	NM_001013663.2(PTRHD1):c.155G>A (p.Cys52Tyr)	LOC129933272, PTRHD1 (C52Y)	Single nucleotide variant (missense variant)	Parkinsonian disorder	GPathogenic
Select item 375708	NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)	TBC1D24 (P135L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 375707	NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys)	TBC1D24 (R360C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 16 +4 more	GConflicting classifications of pathogenicity
Select item 374122	NM_003332.4(TYROBP):c.94G>A (p.Asp32Asn)	TYROBP (D32N)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GUncertain significance
Select item 374080	NC_012920.1(MT-ND6):m.14598T>C	MT-ND6	Single nucleotide variant	Mitochondrial disease	GUncertain significanceFDA Recognized database
Select item 374038	NM_001288705.3(CSF1R):c.647G>A (p.Arg216Gln)	CSF1R, LOC111188154 (R216Q +1 more)	Single nucleotide variant (missense variant +1 more)	Parkinsonian disorder +1 more	GConflicting classifications of pathogenicity
Select item 373908	NM_198578.4(LRRK2):c.5647T>C (p.Phe1883Leu)	LRRK2 (F1883L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373900	NM_183357.3(ADCY5):c.649del (p.Arg217fs)	ADCY5 (R217fs)	Deletion (frameshift variant)	Language disorder +2 more	GUncertain significance
Select item 199044	NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)	GBA1, LOC106627981 (E365K +2 more)	Single nucleotide variant (missense variant)	Lower limb muscle weakness +13 more	GConflicting classifications of pathogenicity; risk factor
Select item 127974	NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)	MRE11 (R576Q)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +8 more	GConflicting classifications of pathogenicity
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 4297	NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]	GBA1, LOC106627981 (L483P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1, LOC106627981 (L483P +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +14 more	GPathogenic; risk factor

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Items: 22