"Ambry Genetics"[submitter] AND "TRIM13"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2477553	NM_213590.3(TRIM13):c.254T>C (p.Ile85Thr)	DLEU2, TRIM13 (I85T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458032	NM_213590.3(TRIM13):c.304C>T (p.Leu102Phe)	DLEU2, TRIM13 (L102F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294605	NM_213590.3(TRIM13):c.329T>C (p.Met110Thr)	DLEU2, TRIM13 (M113T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617525	NM_213590.3(TRIM13):c.538G>C (p.Asp180His)	DLEU2, TRIM13 (D180H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543610	NM_213590.3(TRIM13):c.561G>T (p.Glu187Asp)	DLEU2, TRIM13 (E190D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373379	NM_213590.3(TRIM13):c.641C>T (p.Ala214Val)	TRIM13, DLEU2 (A214V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222206	NM_213590.3(TRIM13):c.820G>A (p.Ala274Thr)	TRIM13, DLEU2 (A274T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2338675	NM_213590.3(TRIM13):c.1064G>C (p.Ser355Thr)	DLEU2, TRIM13 (S355T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2308350	NM_173605.2(KCNRG):c.44T>C (p.Ile15Thr)	KCNRG, DLEU2 +1 more (I15T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386394	NM_173605.2(KCNRG):c.113G>A (p.Arg38Lys)	DLEU2, KCNRG +1 more (R38K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314221	NM_173605.2(KCNRG):c.131T>C (p.Met44Thr)	DLEU2, TRIM13 +1 more (M44T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344676	NM_173605.2(KCNRG):c.208C>G (p.Leu70Val)	TRIM13, KCNRG +1 more (L70V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390379	NM_173605.2(KCNRG):c.233A>G (p.Asp78Gly)	KCNRG, DLEU2 +1 more (D78G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260240	NM_173605.2(KCNRG):c.415A>G (p.Arg139Gly)	TRIM13, DLEU2 +1 more (R139G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454922	NM_173605.2(KCNRG):c.481A>T (p.Met161Leu)	DLEU2, KCNRG +1 more (M161L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance