Related gene-specific medical variations for Gene (Select 64968) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320049	NM_006933.7(SLC5A3):c.2059A>T (p.Met687Leu)	MRPS6, SLC5A3 (M687L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320048	NM_006933.7(SLC5A3):c.2033T>A (p.Met678Lys)	MRPS6, SLC5A3 (M678K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165243	NM_006933.7(SLC5A3):c.223A>G (p.Ser75Gly)	MRPS6, SLC5A3 (S75G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165242	NM_006933.7(SLC5A3):c.2055A>C (p.Leu685Phe)	MRPS6, SLC5A3 (L685F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165241	NM_006933.7(SLC5A3):c.1804G>T (p.Asp602Tyr)	MRPS6, SLC5A3 (D602Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165240	NM_006933.7(SLC5A3):c.1636T>C (p.Phe546Leu)	MRPS6, SLC5A3 (F546L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165239	NM_006933.7(SLC5A3):c.1187A>C (p.Lys396Thr)	MRPS6, SLC5A3 (K396T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556828	NM_006933.7(SLC5A3):c.1195C>T (p.Arg399Cys)	MRPS6, SLC5A3 (R399C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517974	NM_006933.7(SLC5A3):c.1928A>C (p.Glu643Ala)	MRPS6, SLC5A3 (E643A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367728	NM_006933.7(SLC5A3):c.2005C>A (p.Leu669Ile)	MRPS6, SLC5A3 (L669I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342135	NM_006933.7(SLC5A3):c.1249T>G (p.Phe417Val)	MRPS6, SLC5A3 (F417V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340747	NM_006933.7(SLC5A3):c.274C>T (p.Leu92Phe)	MRPS6, SLC5A3 (L92F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309422	NM_006933.7(SLC5A3):c.554A>G (p.Asp185Gly)	MRPS6, SLC5A3 (D185G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273877	NM_006933.7(SLC5A3):c.106G>A (p.Val36Met)	MRPS6, SLC5A3 (V36M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224716	NM_006933.7(SLC5A3):c.1792C>T (p.Leu598Phe)	MRPS6, SLC5A3 (L598F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211552	NM_006933.7(SLC5A3):c.1282A>G (p.Ile428Val)	MRPS6, SLC5A3 (I428V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 756704	NM_006933.7(SLC5A3):c.1203C>T (p.Ser401=)	MRPS6, SLC5A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign