ClinVar for MedGen (Select 863949) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061816	NM_006000.3(TUBA4A):c.727C>A (p.Arg243Ser)	TUBA4A (R228S +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 22	GUncertain significance
Select item 3061812	NM_006000.3(TUBA4A):c.1169G>A (p.Arg390His)	TUBA4A (R375H +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 22	GUncertain significance
Select item 2442039	NM_006000.3(TUBA4A):c.1243G>A (p.Glu415Lys)	TUBA4A (E400K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2438433	NM_006000.3(TUBA4A):c.842C>T (p.Ala281Val)	TUBA4A (A266V +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 22	GUncertain significance
Select item 2438432	NM_006000.3(TUBA4A):c.1025A>G (p.Gln342Arg)	TUBA4A (Q327R +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 22	GUncertain significance
Select item 180187	NM_006000.3(TUBA4A):c.433A>C (p.Thr145Pro)	TUBA4A (T145P +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 22	GPathogenic
Select item 180186	NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr)	TUBA4A (A383T +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 22	GPathogenic
Select item 180184	NM_006000.3(TUBA4A):c.1220G>A (p.Trp407Ter)	TUBA4A (W407* +1 more)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 22	GPathogenic
Select item 180183	NM_006000.3(TUBA4A):c.959G>A (p.Arg320His)	TUBA4A (R320H +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 22	GPathogenic
Select item 180182	NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys)	TUBA4A (R320C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic