Related gene-specific medical variations for Gene (Select 142684) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150777	NM_080879.3(RAB40A):c.59T>C (p.Val20Ala)	LL0XNC01-250H12.3, RAB40A (V20A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150775	NM_080879.3(RAB40A):c.35A>G (p.Asp12Gly)	RAB40A, LL0XNC01-250H12.3 (D12G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150774	NM_080879.3(RAB40A):c.257G>T (p.Gly86Val)	LL0XNC01-250H12.3, RAB40A (G86V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150773	NM_080879.3(RAB40A):c.256G>A (p.Gly86Ser)	LL0XNC01-250H12.3, RAB40A (G86S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150771	NM_080879.3(RAB40A):c.163A>G (p.Thr55Ala)	LL0XNC01-250H12.3, RAB40A (T55A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2618722	NM_080879.3(RAB40A):c.310G>A (p.Gly104Ser)	LL0XNC01-250H12.3, RAB40A (G104S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2537278	NM_080879.3(RAB40A):c.199C>A (p.Leu67Ile)	LL0XNC01-250H12.3, RAB40A (L67I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519015	NM_080879.3(RAB40A):c.734C>G (p.Thr245Ser)	LL0XNC01-250H12.3, RAB40A (T245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479107	NM_080879.3(RAB40A):c.212C>T (p.Ser71Leu)	LL0XNC01-250H12.3, RAB40A (S71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462062	NM_080879.3(RAB40A):c.503C>T (p.Thr168Met)	LL0XNC01-250H12.3, RAB40A (T168M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411199	NM_080879.3(RAB40A):c.209C>T (p.Thr70Met)	LL0XNC01-250H12.3, RAB40A (T70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384762	NM_080879.3(RAB40A):c.61G>A (p.Gly21Ser)	LL0XNC01-250H12.3, RAB40A (G21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362784	NM_080879.3(RAB40A):c.500T>C (p.Phe167Ser)	LL0XNC01-250H12.3, RAB40A (F167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332733	NM_080879.3(RAB40A):c.649A>G (p.Thr217Ala)	LL0XNC01-250H12.3, RAB40A (T217A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332633	NM_080879.3(RAB40A):c.647G>T (p.Ser216Ile)	LL0XNC01-250H12.3, RAB40A (S216I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277742	NM_080879.3(RAB40A):c.368T>G (p.Leu123Arg)	LL0XNC01-250H12.3, RAB40A (L123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342848	NM_080879.3(RAB40A):c.125C>T (p.Pro42Leu)	LL0XNC01-250H12.3, RAB40A (P42L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance