Related gene-specific medical variations for Gene (Select 9609) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150693	NM_004914.5(RAB36):c.736A>C (p.Ile246Leu)	RAB36, RSPH14 (N305T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150692	NM_004914.5(RAB36):c.277G>A (p.Asp93Asn)	RAB36, RSPH14 (D93N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150691	NM_004914.4(RAB36):c.37G>T (p.Ala13Ser)	RAB36, RSPH14 (A13S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150690	NM_004914.5(RAB36):c.160G>A (p.Gly54Arg)	RAB36, RSPH14 (G144R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150689	NM_004914.5(RAB36):c.127G>A (p.Ala43Thr)	RAB36, RSPH14 (A109T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150688	NM_004914.5(RAB36):c.-54G>A	RAB36, RSPH14 (G49R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2622425	NM_004914.5(RAB36):c.-41C>T	RAB36, RSPH14 (A53V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482468	NM_004914.5(RAB36):c.382C>T (p.Arg128Trp)	RAB36, RSPH14 (R218W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460696	NM_004914.5(RAB36):c.424G>A (p.Val142Met)	RAB36, RSPH14 (V232M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455614	NM_004914.5(RAB36):c.622G>A (p.Glu208Lys)	RAB36, RSPH14 (E298K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333929	NM_004914.5(RAB36):c.181G>A (p.Val61Met)	RAB36, RSPH14 (V127M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287295	NM_004914.5(RAB36):c.664T>C (p.Phe222Leu)	RAB36, RSPH14 (I281T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285460	NM_004914.5(RAB36):c.646C>T (p.Arg216Cys)	RAB36, RSPH14 (P275L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277491	NM_004914.5(RAB36):c.236A>G (p.Lys79Arg)	RAB36, RSPH14 (K145R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236504	NM_004914.5(RAB36):c.488C>T (p.Ser163Phe)	RAB36, RSPH14 (S163F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206105	NM_004914.5(RAB36):c.649G>A (p.Val217Ile)	RAB36, RSPH14 (R276H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205502	NM_004914.5(RAB36):c.202G>A (p.Val68Met)	RSPH14, RAB36 (V134M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance