"Ambry Genetics"[submitter] AND "GPBP1L1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282104	NM_021639.5(GPBP1L1):c.1259T>C (p.Met420Thr)	GPBP1L1 (M420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383681	NM_021639.5(GPBP1L1):c.1238A>G (p.Asp413Gly)	GPBP1L1 (D413G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101215	NM_021639.5(GPBP1L1):c.1228C>A (p.Leu410Ile)	GPBP1L1 (L410I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378750	NM_021639.5(GPBP1L1):c.1226C>T (p.Pro409Leu)	GPBP1L1 (P409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399806	NM_021639.5(GPBP1L1):c.1114C>T (p.Leu372Phe)	GPBP1L1 (L372F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376205	NM_021639.5(GPBP1L1):c.1051G>A (p.Asp351Asn)	GPBP1L1 (D351N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101214	NM_021639.5(GPBP1L1):c.1027T>C (p.Cys343Arg)	GPBP1L1 (C343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282103	NM_021639.5(GPBP1L1):c.911T>C (p.Ile304Thr)	GPBP1L1 (I304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532099	NM_021639.5(GPBP1L1):c.889C>G (p.Pro297Ala)	GPBP1L1 (P297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101220	NM_021639.5(GPBP1L1):c.860G>A (p.Gly287Asp)	GPBP1L1 (G287D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354769	NM_021639.5(GPBP1L1):c.716T>C (p.Val239Ala)	GPBP1L1 (V239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282105	NM_021639.5(GPBP1L1):c.698G>C (p.Ser233Thr)	GPBP1L1 (S233T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101219	NM_021639.5(GPBP1L1):c.697A>G (p.Ser233Gly)	GPBP1L1 (S233G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101218	NM_021639.5(GPBP1L1):c.688G>A (p.Val230Met)	GPBP1L1 (V230M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3282107	NM_021639.5(GPBP1L1):c.662A>G (p.His221Arg)	GPBP1L1 (H221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282102	NM_021639.5(GPBP1L1):c.608A>G (p.Lys203Arg)	GPBP1L1 (K203R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282106	NM_021639.5(GPBP1L1):c.535C>T (p.Pro179Ser)	GPBP1L1 (P179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211420	NM_021639.5(GPBP1L1):c.527T>C (p.Ile176Thr)	GPBP1L1 (I176T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282101	NM_021639.5(GPBP1L1):c.444G>C (p.Lys148Asn)	GPBP1L1 (K148N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463380	NM_021639.5(GPBP1L1):c.382A>G (p.Lys128Glu)	GPBP1L1 (K128E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101217	NM_021639.5(GPBP1L1):c.380G>A (p.Arg127Gln)	GPBP1L1 (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483345	NM_021639.5(GPBP1L1):c.353G>A (p.Arg118His)	GPBP1L1 (R118H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2396532	NM_021639.5(GPBP1L1):c.325C>T (p.Arg109Cys)	GPBP1L1 (R109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101216	NM_021639.5(GPBP1L1):c.302G>T (p.Arg101Leu)	GPBP1L1 (R101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391636	NM_021639.5(GPBP1L1):c.179G>A (p.Arg60Gln)	GPBP1L1 (R60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341588	NM_021639.5(GPBP1L1):c.162T>A (p.Phe54Leu)	GPBP1L1 (F54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594766	NM_021639.5(GPBP1L1):c.95A>T (p.His32Leu)	GPBP1L1 (H32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623783	NM_021639.5(GPBP1L1):c.70G>A (p.Ala24Thr)	GPBP1L1 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 28