ClinVar for MedGen (Select 38785) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802174	NM_001199397.3(NEK1):c.[1226G>A];[1948del]			Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic
Select item 1334461	NM_007262.5(PARK7):c.377A>G (p.His126Arg)	PARK7 (H126R)	Single nucleotide variant (missense variant)	Motor neuron disease +1 more	GUncertain significance
Select item 1328480	NM_000530.8(MPZ):c.130T>C (p.Ser44Pro)	MPZ (S44P)	Single nucleotide variant (missense variant)	Motor neuron disease	GLikely pathogenic
Select item 549699	NM_002047.4(GARS1):c.123_124insG (p.Pro42fs)	GARS1 (P42fs)	Insertion (frameshift variant +1 more)	Motor neuron disease	GUncertain significance
Select item 266072	NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)	TBK1 (R444*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic; other
Select item 266071	NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile)	TBK1 (T503I)	Single nucleotide variant (missense variant)	Motor neuron disease +1 more	GUncertain significance
Select item 266070	NM_013254.4(TBK1):c.1135A>G (p.Ile379Val)	TBK1 (I379V)	Single nucleotide variant (missense variant)	Motor neuron disease	GUncertain significance
Select item 266069	NM_013254.4(TBK1):c.829C>G (p.Leu277Val)	TBK1 (L277V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +2 more	GConflicting classifications of pathogenicity
Select item 266068	NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)	TBK1 (S151F)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GConflicting classifications of pathogenicity
Select item 266067	NM_013254.4(TBK1):c.2115_2127del (p.Glu706fs)	TBK1 (E706fs)	Deletion (frameshift variant)	Motor neuron disease	Gother
Select item 266066	NM_013254.4(TBK1):c.1432del (p.Thr478fs)	TBK1 (T478fs)	Deletion (frameshift variant)	Motor neuron disease	Gother
Select item 266065	NM_007375.4(TARDBP):c.1122T>G (p.Tyr374Ter)	TARDBP (Y374*)	Single nucleotide variant (nonsense)	Motor neuron disease +2 more	GUncertain significance
Select item 266064	NM_007375.4(TARDBP):c.1043G>T (p.Gly348Val)	TARDBP (G348V)	Single nucleotide variant (missense variant)	Motor neuron disease	GPathogenic
Select item 266063	NM_000454.5(SOD1):c.437C>A (p.Ala146Asp)	SOD1 (A146D)	Single nucleotide variant (missense variant)	Motor neuron disease	GLikely pathogenic
Select item 266062	NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg)	OPTN (M468R)	Single nucleotide variant (missense variant)	Motor neuron disease	GLikely pathogenic
Select item 266061	NM_001008212.2(OPTN):c.1337A>G (p.Glu446Gly)	OPTN (E446G)	Single nucleotide variant (missense variant)	Motor neuron disease	GUncertain significance
Select item 266060	NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)	OPTN (Q314L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 266059	NM_001008212.2(OPTN):c.280A>C (p.Lys94Gln)	OPTN, LOC108903148 (K94Q)	Single nucleotide variant (missense variant)	Motor neuron disease	GLikely pathogenic
Select item 266058	NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter)	NEK1 (R161*)	Single nucleotide variant (nonsense +1 more)	Motor neuron disease +1 more	GPathogenic; other
Select item 266057	NM_001199397.3(NEK1):c.1911_1912insTATA (p.Ala638fs)	NEK1 (A566fs +6 more)	Insertion (frameshift variant +1 more)	Motor neuron disease	GUncertain significance
Select item 266056	NM_001199397.3(NEK1):c.1750-5T>C	NEK1	Single nucleotide variant (intron variant)	Motor neuron disease +1 more	GConflicting classifications of pathogenicity
Select item 266055	NM_001199397.3(NEK1):c.214+1G>A	NEK1	Single nucleotide variant (splice donor variant)	Connective tissue disorder +2 more	GPathogenic; other
Select item 266054	NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu)	NEK1 (S1019L +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 266053	NM_001199397.3(NEK1):c.2392C>G (p.Leu798Val)	NEK1 (L770V +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 266052	NM_001199397.3(NEK1):c.2368G>A (p.Ala790Thr)	NEK1 (A762T +6 more)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease	GLikely benign
Select item 266051	NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)	NEK1 (N717K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 266050	NM_001199397.3(NEK1):c.2306A>G (p.His769Arg)	NEK1 (H741R +6 more)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease +1 more	GConflicting classifications of pathogenicity
Select item 266049	NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)	NEK1 (V685M +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 266048	NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile)	NEK1 (F569I +6 more)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease +2 more	GConflicting classifications of pathogenicity
Select item 266047	NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu)	NEK1 (D379E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 266046	NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)	NEK1 (A341T)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 266045	NM_001199397.3(NEK1):c.827G>T (p.Cys276Phe)	NEK1 (C276F)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease	GUncertain significance
Select item 266044	NM_001199397.3(NEK1):c.695G>A (p.Arg232His)	NEK1 (R232H)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 266043	NM_001199397.3(NEK1):c.386T>G (p.Ile129Ser)	NEK1 (I129S)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease	GLikely pathogenic
Select item 266042	NM_001199397.3(NEK1):c.1948del (p.Gln650fs)	NEK1 (Q606fs +5 more)	Deletion (frameshift variant +2 more)	Motor neuron disease	Gother
Select item 199125	NM_001199397.3(NEK1):c.782G>A (p.Arg261His)	NEK1 (R261H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197145	NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)	SOD1 (I114T)	Single nucleotide variant (missense variant)	Motor neuron disease +2 more	GPathogenic/Likely pathogenic
Select item 21483	NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +3 more	GPathogenic/Likely pathogenic
Select item 14784	NM_000454.5(SOD1):c.280G>C (p.Gly94Arg)	SOD1 (G94R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 14761	NM_000454.5(SOD1):c.302A>G (p.Glu101Gly)	SOD1 (E101G)	Single nucleotide variant (missense variant)	Motor neuron disease +2 more	GPathogenic
Select item 14752	NM_000454.5(SOD1):c.112G>A (p.Gly38Arg)	SOD1 (G38R)	Single nucleotide variant (missense variant)	Motor neuron disease +2 more	GPathogenic

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Items: 41