Related gene-specific medical variations for Gene (Select 8847) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328627	NM_213590.3(TRIM13):c.333G>T (p.Gln111His)	DLEU2, TRIM13 (Q111H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328626	NM_213590.3(TRIM13):c.918C>G (p.Phe306Leu)	DLEU2, TRIM13 (F309L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328625	NM_213590.3(TRIM13):c.1010A>G (p.Glu337Gly)	DLEU2, TRIM13 (E337G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287744	NM_173605.2(KCNRG):c.350G>A (p.Arg117Gln)	DLEU2, KCNRG +1 more (R117Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3287743	NM_173605.2(KCNRG):c.329T>G (p.Val110Gly)	DLEU2, KCNRG +1 more (V110G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3182222	NM_213590.3(TRIM13):c.884A>G (p.Asp295Gly)	DLEU2, TRIM13 (D295G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182221	NM_213590.3(TRIM13):c.479G>A (p.Arg160His)	DLEU2, TRIM13 (R160H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182220	NM_213590.3(TRIM13):c.349T>G (p.Cys117Gly)	DLEU2, TRIM13 (C117G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182219	NM_213590.3(TRIM13):c.145C>G (p.Pro49Ala)	DLEU2, TRIM13 (P52A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113481	NM_173605.2(KCNRG):c.88C>T (p.Arg30Cys)	DLEU2, KCNRG +1 more (R30C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113480	NM_173605.2(KCNRG):c.640C>G (p.Leu214Val)	DLEU2, KCNRG (L214V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113479	NM_173605.2(KCNRG):c.591A>G (p.Ile197Met)	DLEU2, KCNRG (I197M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113478	NM_173605.2(KCNRG):c.488T>C (p.Leu163Ser)	DLEU2, KCNRG +1 more (L163S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113477	NM_173605.2(KCNRG):c.274C>T (p.Arg92Cys)	DLEU2, KCNRG +1 more (R92C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113476	NM_173605.2(KCNRG):c.25T>G (p.Leu9Val)	DLEU2, KCNRG +1 more (L9V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2617525	NM_213590.3(TRIM13):c.538G>C (p.Asp180His)	DLEU2, TRIM13 (D180H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543610	NM_213590.3(TRIM13):c.561G>T (p.Glu187Asp)	DLEU2, TRIM13 (E190D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535741	NM_173605.2(KCNRG):c.657A>C (p.Leu219Phe)	DLEU2, KCNRG (L219F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481430	NM_173605.2(KCNRG):c.749T>A (p.Val250Glu)	DLEU2, KCNRG (V250E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477553	NM_213590.3(TRIM13):c.254T>C (p.Ile85Thr)	DLEU2, TRIM13 (I85T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458032	NM_213590.3(TRIM13):c.304C>T (p.Leu102Phe)	DLEU2, TRIM13 (L102F +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2401286	NM_173605.2(KCNRG):c.605G>A (p.Arg202Gln)	DLEU2, KCNRG (R202Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390379	NM_173605.2(KCNRG):c.233A>G (p.Asp78Gly)	DLEU2, KCNRG +1 more (D78G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2373379	NM_213590.3(TRIM13):c.641C>T (p.Ala214Val)	DLEU2, TRIM13 (A214V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344676	NM_173605.2(KCNRG):c.208C>G (p.Leu70Val)	DLEU2, KCNRG +1 more (L70V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2338675	NM_213590.3(TRIM13):c.1064G>C (p.Ser355Thr)	DLEU2, TRIM13 (S355T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314221	NM_173605.2(KCNRG):c.131T>C (p.Met44Thr)	TRIM13, DLEU2 +1 more (M44T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2308350	NM_173605.2(KCNRG):c.44T>C (p.Ile15Thr)	DLEU2, KCNRG +1 more (I15T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2294605	NM_213590.3(TRIM13):c.329T>C (p.Met110Thr)	DLEU2, TRIM13 (M113T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260240	NM_173605.2(KCNRG):c.415A>G (p.Arg139Gly)	DLEU2, KCNRG +1 more (R139G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222206	NM_213590.3(TRIM13):c.820G>A (p.Ala274Thr)	DLEU2, TRIM13 (A274T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2218896	NM_173605.2(KCNRG):c.662A>C (p.Glu221Ala)	DLEU2, KCNRG (E221A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 34