"Ambry Genetics"[submitter] AND "SKIL"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2478095	NM_005414.5(SKIL):c.41C>T (p.Ser14Leu)	SKIL (S14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479227	NM_005414.5(SKIL):c.61A>G (p.Met21Val)	SKIL (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545275	NM_005414.5(SKIL):c.70G>C (p.Asp24His)	SKIL (D24H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162688	NM_005414.5(SKIL):c.199G>C (p.Glu67Gln)	SKIL (E47Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539344	NM_005414.5(SKIL):c.344G>T (p.Ser115Ile)	SKIL (S115I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162689	NM_005414.5(SKIL):c.442G>A (p.Val148Met)	SKIL (V148M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605619	NM_005414.5(SKIL):c.494T>A (p.Leu165His)	SKIL (L145H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395222	NM_005414.5(SKIL):c.574A>T (p.Ile192Leu)	SKIL (I172L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459869	NM_005414.5(SKIL):c.593C>G (p.Thr198Ser)	SKIL (T198S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616713	NM_005414.5(SKIL):c.704G>A (p.Arg235Gln)	SKIL (R215Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344495	NM_005414.5(SKIL):c.740C>T (p.Pro247Leu)	SKIL (P247L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162690	NM_005414.5(SKIL):c.773C>G (p.Thr258Ser)	SKIL (T238S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508120	NM_005414.5(SKIL):c.848A>G (p.Gln283Arg)	SKIL (Q283R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162678	NM_005414.5(SKIL):c.1082A>C (p.Lys361Thr)	SKIL (K341T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403487	NM_005414.5(SKIL):c.1085G>A (p.Arg362Lys)	SKIL (R342K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224964	NM_005414.5(SKIL):c.1130C>T (p.Ser377Leu)	SKIL (S377L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162680	NM_005414.5(SKIL):c.1144A>G (p.Ile382Val)	SKIL (I362V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339907	NM_005414.5(SKIL):c.1207T>C (p.Tyr403His)	LOC129389168, SKIL (Y403H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318746	NM_005414.5(SKIL):c.1300A>T (p.Ile434Leu)	LOC129389168, SKIL (I434L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162681	NM_005414.5(SKIL):c.1310A>T (p.Gln437Leu)	LOC129389168, SKIL (Q417L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162682	NM_005414.5(SKIL):c.1369T>C (p.Ser457Pro)	LOC129389168, SKIL (S437P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162683	NM_005414.5(SKIL):c.1372C>T (p.Leu458Phe)	LOC129389168, SKIL (L458F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455677	NM_005414.5(SKIL):c.1424G>A (p.Arg475His)	SKIL (R455H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2391036	NM_005414.5(SKIL):c.1438A>G (p.Ile480Val)	SKIL (I460V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557648	NM_005414.5(SKIL):c.1453A>G (p.Thr485Ala)	SKIL (T439A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266412	NM_005414.5(SKIL):c.1486A>C (p.Asn496His)	SKIL (N496H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480647	NM_005414.5(SKIL):c.1507A>C (p.Lys503Gln)	SKIL (K503Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522604	NM_005414.5(SKIL):c.1535C>A (p.Ala512Asp)	SKIL (A466D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318747	NM_005414.5(SKIL):c.1549C>T (p.Leu517Phe)	SKIL (L471F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318745	NM_005414.5(SKIL):c.1593G>C (p.Met531Ile)	SKIL (M511I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162684	NM_005414.5(SKIL):c.1608A>T (p.Arg536Ser)	SKIL (R490S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534573	NM_005414.5(SKIL):c.1699T>G (p.Ser567Ala)	SKIL (S521A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2260491	NM_005414.5(SKIL):c.1723C>A (p.Gln575Lys)	SKIL (Q529K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162685	NM_005414.5(SKIL):c.1789T>C (p.Tyr597His)	SKIL (Y551H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162686	NM_005414.5(SKIL):c.1801A>G (p.Lys601Glu)	SKIL (K601E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339908	NM_005414.5(SKIL):c.1861T>G (p.Leu621Val)	SKIL (L621V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325405	NM_005414.5(SKIL):c.1921G>T (p.Asp641Tyr)	SKIL (D641Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548896	NM_005414.5(SKIL):c.1973G>T (p.Arg658Leu)	SKIL (R638L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247848	NM_005414.5(SKIL):c.1988A>G (p.Lys663Arg)	SKIL (K617R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 39