Related gene-specific medical variations for Gene (Select 10732) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3175190	NM_006602.4(TCFL5):c.351C>G (p.Asp117Glu)	LOC130066333, TCFL5 (D117E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175189	NM_006602.4(TCFL5):c.301G>A (p.Gly101Ser)	LOC130066333, TCFL5 (G101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338051	NM_006602.4(TCFL5):c.422A>C (p.Glu141Ala)	LOC130066333, TCFL5 (E141A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314848	NM_006602.4(TCFL5):c.308C>G (p.Ala103Gly)	LOC130066333, TCFL5 (A103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209775	NM_006602.4(TCFL5):c.311C>T (p.Pro104Leu)	LOC130066333, TCFL5 (P104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 339321	NM_001853.4(COL9A3):c.*409C>T	COL9A3, TCFL5	Single nucleotide variant (3 prime UTR variant)	Multiple Epiphyseal Dysplasia, Dominant	GUncertain significance
Select item 339319	NM_001853.4(COL9A3):c.*319A>C	TCFL5, COL9A3	Single nucleotide variant (3 prime UTR variant)	Multiple Epiphyseal Dysplasia, Dominant	GUncertain significance

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