"Ambry Genetics"[submitter] AND "LIN54"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3118931	NM_194282.4(LIN54):c.2183G>A (p.Arg728Gln)	LIN54 (R507Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311190	NM_194282.4(LIN54):c.2152G>T (p.Ala718Ser)	LIN54 (A718S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333338	NM_194282.4(LIN54):c.2119C>A (p.Gln707Lys)	LIN54 (Q707K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118930	NM_194282.4(LIN54):c.2065G>T (p.Val689Leu)	LIN54 (V600L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622296	NM_194282.4(LIN54):c.1908G>A (p.Pro636=)	LIN54	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2366923	NM_194282.4(LIN54):c.1857G>A (p.Met619Ile)	LIN54 (M398I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293346	NM_194282.4(LIN54):c.1558C>T (p.Arg520Trp)	LIN54 (R520W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325910	NM_194282.4(LIN54):c.1459G>A (p.Val487Ile)	LIN54 (V266I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539265	NM_194282.4(LIN54):c.1457A>T (p.Tyr486Phe)	LIN54 (Y397F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262068	NM_194282.4(LIN54):c.1396G>C (p.Gly466Arg)	LIN54 (G377R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481434	NM_194282.4(LIN54):c.1346A>G (p.Asn449Ser)	LIN54 (N228S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314150	NM_194282.4(LIN54):c.1172A>G (p.Lys391Arg)	LIN54 (K170R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314672	NM_194282.4(LIN54):c.908C>G (p.Thr303Arg)	LIN54 (T303R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118935	NM_194282.4(LIN54):c.886A>G (p.Thr296Ala)	LIN54 (T296A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2290169	NM_194282.4(LIN54):c.647C>T (p.Pro216Leu)	LIN54 (P216L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359697	NM_194282.4(LIN54):c.586C>A (p.Pro196Thr)	LIN54 (P196T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283039	NM_194282.4(LIN54):c.286C>T (p.Pro96Ser)	LIN54 (P96S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118932	NM_194282.4(LIN54):c.277C>A (p.Pro93Thr)	LIN54 (P93T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273656	NM_194282.4(LIN54):c.112A>G (p.Ile38Val)	LIN54 (I38V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290768	NM_194282.4(LIN54):c.95T>C (p.Val32Ala)	LIN54 (V32A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546795	NM_194282.4(LIN54):c.82A>C (p.Ser28Arg)	LIN54 (S28R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268170	NM_194282.4(LIN54):c.43G>A (p.Glu15Lys)	LIN54 (E15K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118933	NM_194282.4(LIN54):c.40G>C (p.Glu14Gln)	LIN54 (E14Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385952	NM_194282.4(LIN54):c.29G>A (p.Ser10Asn)	LIN54 (S10N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 24