"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "GPD1"[g - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1438882	NM_005276.4(GPD1):c.1A>G (p.Met1Val)	GPD1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1454967	NM_005276.4(GPD1):c.39C>T (p.Asn13=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924779	NM_005276.4(GPD1):c.41+17A>G	GPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936038	NM_005276.4(GPD1):c.42-10C>T	GPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889618	NM_005276.4(GPD1):c.54C>T (p.Ile18=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902963	NM_005276.4(GPD1):c.60G>A (p.Lys20=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1494730	NM_005276.4(GPD1):c.83A>G (p.Gln28Arg)	GPD1 (Q28R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908429	NM_005276.4(GPD1):c.104G>A (p.Arg35Gln)	GPD1 (R35Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1607859	NM_005276.4(GPD1):c.105G>A (p.Arg35=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368236	NM_005276.4(GPD1):c.133A>G (p.Ile45Val)	GPD1 (I45V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2863444	NM_005276.4(GPD1):c.134T>A (p.Ile45Asn)	GPD1 (I45N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 703255	NM_005276.4(GPD1):c.159C>A (p.Ile53=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 701920	NM_005276.4(GPD1):c.160A>G (p.Ile54Val)	GPD1 (I54V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2706489	NM_005276.4(GPD1):c.205T>C (p.Leu69=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606500	NM_005276.4(GPD1):c.219+20G>A	GPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1934745	NM_005276.4(GPD1):c.220-14G>C	GPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 706454	NM_005276.4(GPD1):c.236T>G (p.Val79Gly)	GPD1 (V79G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1558873	NM_005276.4(GPD1):c.264C>A (p.Ile88=)	GPD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1417650	NM_005276.4(GPD1):c.295G>C (p.Gly99Arg)	GPD1 (G76R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963416	NM_005276.4(GPD1):c.336C>T (p.Asn112=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 702598	NM_005276.4(GPD1):c.361G>A (p.Gly121Arg)	GPD1 (G121R +1 more)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis +1 more	GConflicting classifications of pathogenicity
Select item 1584167	NM_005276.4(GPD1):c.369C>T (p.Asp123=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 702553	NM_005276.4(GPD1):c.370G>A (p.Glu124Lys)	GPD1 (E124K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1201670	NM_005276.4(GPD1):c.380A>G (p.Asn127Ser)	GPD1 (N104S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2756841	NM_005276.4(GPD1):c.396C>T (p.Ile132=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1325834	NM_005276.4(GPD1):c.398C>T (p.Ser133Leu)	GPD1 (S110L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 752850	NM_005276.4(GPD1):c.420C>T (p.Leu140=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032309	NM_005276.4(GPD1):c.431T>C (p.Met144Thr)	GPD1 (M121T +1 more)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis +1 more	GConflicting classifications of pathogenicity
Select item 1390382	NM_005276.4(GPD1):c.462C>T (p.Ser154=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649592	NM_005276.4(GPD1):c.500-18G>A	GPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1448867	NM_005276.4(GPD1):c.512C>T (p.Pro171Leu)	GPD1 (P148L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1071286	NM_005276.4(GPD1):c.544C>T (p.Gln182Ter)	GPD1 (Q159* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2738106	NM_005276.4(GPD1):c.567A>G (p.Thr189=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1183227	NM_005276.4(GPD1):c.590T>C (p.Val197Ala)	GPD1 (V174A +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2906066	NM_005276.4(GPD1):c.605C>T (p.Ala202Val)	GPD1 (A202V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254491	NM_005276.4(GPD1):c.612G>A (p.Lys204=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2991634	NM_005276.4(GPD1):c.613-12C>T	GPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1391619	NM_005276.4(GPD1):c.625G>A (p.Val209Met)	GPD1 (V186M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962687	NM_005276.4(GPD1):c.629G>T (p.Gly210Val)	GPD1 (G187V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195029	NM_005276.4(GPD1):c.660C>T (p.Gly220=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 702730	NM_005276.4(GPD1):c.675G>A (p.Ala225=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1214255	NM_005276.4(GPD1):c.715G>A (p.Ala239Thr)	GPD1 (A216T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1465382	NM_005276.4(GPD1):c.718A>C (p.Lys240Gln)	GPD1 (K217Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 728550	NM_005276.4(GPD1):c.744C>T (p.Ser248=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965391	NM_005276.4(GPD1):c.749C>T (p.Ala250Val)	GPD1 (A227V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1439143	NM_005276.4(GPD1):c.791C>T (p.Thr264Ile)	GPD1 (T241I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368996	NM_005276.4(GPD1):c.797A>G (p.Tyr266Cys)	GPD1 (Y266C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069385	NM_005276.4(GPD1):c.799G>A (p.Gly267Arg)	GPD1 (G244R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425485	NM_005276.4(GPD1):c.805C>T (p.Arg269Trp)	GPD1 (R246W +1 more)	Single nucleotide variant (missense variant)	GPD1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1460645	NM_005276.4(GPD1):c.812G>A (p.Arg271Gln)	GPD1 (R248Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1432736	NM_005276.4(GPD1):c.836G>A (p.Arg279His)	GPD1 (R256H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739093	NM_005276.4(GPD1):c.846+9C>T	GPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 703251	NM_005276.4(GPD1):c.846+10G>A	GPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1515754	NM_005276.4(GPD1):c.847-3C>A	GPD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2148233	NM_005276.4(GPD1):c.850A>G (p.Ile284Val)	GPD1 (I261V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2852869	NM_005276.4(GPD1):c.861G>A (p.Leu287=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806885	NM_005276.4(GPD1):c.895G>A (p.Gly299Arg)	GPD1 (G276R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 732795	NM_005276.4(GPD1):c.900C>T (p.Pro300=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1632611	NM_005276.4(GPD1):c.953+19C>G	GPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1487858	NM_005276.4(GPD1):c.954-6A>G	GPD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 703229	NM_005276.4(GPD1):c.990C>T (p.Tyr330=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1285304	NM_005276.4(GPD1):c.1017C>T (p.Ile339=)	GPD1	Single nucleotide variant (synonymous variant)	Transient infantile hypertriglyceridemia and hepatosteatosis +1 more	GBenign
Select item 697641	NM_005276.4(GPD1):c.1026G>A (p.Leu342=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1946741	NM_005276.4(GPD1):c.1049G>A (p.Ter350=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3244385	NC_000012.11:g.(?_50497834)_(50497894_?)del	GPD1	Deletion	not provided	GPathogenic

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Items: 65