"Ambry Genetics"[submitter] AND "PLAGL1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3214282	NM_001317162.2(PLAGL1):c.1253T>A (p.Leu418Gln)	PLAGL1 (L418Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388643	NM_001317162.2(PLAGL1):c.1199A>G (p.Asn400Ser)	PLAGL1 (N348S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495907	NM_001317162.2(PLAGL1):c.1174C>T (p.Pro392Ser)	PLAGL1 (P340S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214281	NM_001317162.2(PLAGL1):c.1132C>G (p.Leu378Val)	PLAGL1 (L326V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320724	NM_001317162.2(PLAGL1):c.982A>G (p.Ile328Val)	PLAGL1 (I276V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307264	NM_001317162.2(PLAGL1):c.940G>T (p.Ala314Ser)	PLAGL1 (A314S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307265	NM_001317162.2(PLAGL1):c.829C>T (p.Pro277Ser)	PLAGL1 (P277S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214288	NM_001317162.2(PLAGL1):c.818A>G (p.Gln273Arg)	PLAGL1 (Q273R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214287	NM_001317162.2(PLAGL1):c.802C>T (p.Pro268Ser)	PLAGL1 (P216S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214286	NM_001317162.2(PLAGL1):c.661C>A (p.Leu221Ile)	PLAGL1 (L169I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227230	NM_001317162.2(PLAGL1):c.651G>C (p.Gln217His)	PLAGL1 (Q165H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484340	NM_001317162.2(PLAGL1):c.515G>A (p.Arg172Gln)	PLAGL1 (R120Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410032	NM_001317162.2(PLAGL1):c.439C>A (p.Pro147Thr)	PLAGL1 (P147T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290656	NM_001317162.2(PLAGL1):c.432A>C (p.Glu144Asp)	PLAGL1 (E144D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510015	NM_001317162.2(PLAGL1):c.413A>T (p.His138Leu)	PLAGL1 (H86L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605482	NM_001317162.2(PLAGL1):c.397G>A (p.Glu133Lys)	PLAGL1 (E133K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323941	NM_001317162.2(PLAGL1):c.379C>A (p.Leu127Met)	PLAGL1 (L127M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366795	NM_001317162.2(PLAGL1):c.367G>T (p.Gly123Trp)	PLAGL1 (G123W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214284	NM_001317162.2(PLAGL1):c.302A>C (p.Asn101Thr)	PLAGL1 (N101T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348759	NM_001317162.2(PLAGL1):c.301A>T (p.Asn101Tyr)	PLAGL1 (N101Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214283	NM_001317162.2(PLAGL1):c.256C>G (p.Pro86Ala)	PLAGL1 (P34A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337820	NM_001317162.2(PLAGL1):c.234A>T (p.Lys78Asn)	PLAGL1 (K78N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307266	NM_001317162.2(PLAGL1):c.164C>A (p.Thr55Asn)	PLAGL1 (T55N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242616	NM_001317162.2(PLAGL1):c.35C>T (p.Thr12Met)	PLAGL1 (T12M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 24