"Ambry Genetics"[submitter] AND "GDPGP1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3099329	NM_001013657.3(GDPGP1):c.8T>G (p.Leu3Arg)	CIB1, GDPGP1 (L3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256143	NM_001013657.3(GDPGP1):c.37T>G (p.Leu13Val)	CIB1, GDPGP1 (L13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099327	NM_001013657.3(GDPGP1):c.53A>G (p.Asn18Ser)	CIB1, GDPGP1 (N18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248458	NM_001013657.3(GDPGP1):c.118G>A (p.Gly40Arg)	GDPGP1, CIB1 (G40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363749	NM_001013657.3(GDPGP1):c.140C>T (p.Ala47Val)	CIB1, GDPGP1 (A47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401841	NM_001013657.3(GDPGP1):c.229C>T (p.Arg77Cys)	CIB1, GDPGP1 (R77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362998	NM_001013657.3(GDPGP1):c.269G>A (p.Gly90Asp)	CIB1, GDPGP1 (G90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481992	NM_001013657.3(GDPGP1):c.283G>A (p.Val95Met)	CIB1, GDPGP1 (V95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099319	NM_001013657.3(GDPGP1):c.304C>T (p.Arg102Cys)	CIB1, GDPGP1 (R102C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099320	NM_001013657.3(GDPGP1):c.305G>C (p.Arg102Pro)	CIB1, GDPGP1 (R102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099321	NM_001013657.3(GDPGP1):c.356T>C (p.Phe119Ser)	CIB1, GDPGP1 (F119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099323	NM_001013657.3(GDPGP1):c.361C>T (p.Pro121Ser)	CIB1, GDPGP1 (P121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099324	NM_001013657.3(GDPGP1):c.451G>C (p.Glu151Gln)	CIB1, GDPGP1 (E151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099325	NM_001013657.3(GDPGP1):c.460C>A (p.Leu154Met)	CIB1, GDPGP1 (L154M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223676	NM_001013657.3(GDPGP1):c.466G>A (p.Val156Met)	CIB1, GDPGP1 (V156M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3099326	NM_001013657.3(GDPGP1):c.523C>A (p.Arg175Ser)	CIB1, GDPGP1 (R175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388367	NM_001013657.3(GDPGP1):c.524G>T (p.Arg175Leu)	CIB1, GDPGP1 (R175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459937	NM_001013657.3(GDPGP1):c.538C>T (p.Arg180Cys)	CIB1, GDPGP1 (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529689	NM_001013657.3(GDPGP1):c.593A>C (p.His198Pro)	CIB1, GDPGP1 (H198P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522196	NM_001013657.3(GDPGP1):c.638C>T (p.Ser213Leu)	CIB1, GDPGP1 (S213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099328	NM_001013657.3(GDPGP1):c.734A>C (p.His245Pro)	CIB1, GDPGP1 (H245P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351991	NM_001013657.3(GDPGP1):c.813C>G (p.Ser271Arg)	CIB1, GDPGP1 (S271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606476	NM_001013657.3(GDPGP1):c.823C>T (p.Arg275Trp)	CIB1, GDPGP1 (R275W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597626	NM_001013657.3(GDPGP1):c.824G>A (p.Arg275Gln)	CIB1, GDPGP1 (R275Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459668	NM_001013657.3(GDPGP1):c.848A>G (p.His283Arg)	CIB1, GDPGP1 (H283R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561600	NM_001013657.3(GDPGP1):c.859C>T (p.His287Tyr)	CIB1, GDPGP1 (H287Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235305	NM_001013657.3(GDPGP1):c.877C>T (p.Arg293Trp)	CIB1, GDPGP1 (R293W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357921	NM_001013657.3(GDPGP1):c.878G>A (p.Arg293Gln)	CIB1, GDPGP1 (R293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232421	NM_001013657.3(GDPGP1):c.1028C>T (p.Thr343Ile)	CIB1, GDPGP1 (T343I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235677	NM_001013657.3(GDPGP1):c.1040T>A (p.Phe347Tyr)	CIB1, GDPGP1 (F347Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494161	NM_001013657.3(GDPGP1):c.1063G>A (p.Ala355Thr)	CIB1, GDPGP1 (A355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305389	NM_001013657.3(GDPGP1):c.1072C>T (p.Leu358Phe)	CIB1, GDPGP1 (L358F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099318	NM_001013657.3(GDPGP1):c.1114G>A (p.Val372Ile)	CIB1, GDPGP1 (V372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 33