2819[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 58211	GRCh38/hg38 12q13.12(chr12:49840075-50315208)x3	AQP2, AQP5 +43 more	Copy number gain	See cases	GUncertain significance
Select item 1438882	NM_005276.4(GPD1):c.1A>G (p.Met1Val)	GPD1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1030902	NM_005276.4(GPD1):c.34G>A (p.Gly12Arg)	GPD1 (G12R)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	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 1249493	NM_005276.4(GPD1):c.42-218T>G	GPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215556	NM_005276.4(GPD1):c.42-209C>A	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 3101279	NM_005276.4(GPD1):c.64G>A (p.Val22Met)	GPD1 (V22M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	not provided	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 +1 more	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 1184562	NM_005276.4(GPD1):c.219+1_219+3del	GPD1	Microsatellite (splice donor variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GLikely pathogenic
Select item 1687411	NM_005276.4(GPD1):c.219+1G>A	GPD1	Single nucleotide variant (splice donor variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GPathogenic
Select item 1606500	NM_005276.4(GPD1):c.219+20G>A	GPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216010	NM_005276.4(GPD1):c.220-267C>T	GPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934745	NM_005276.4(GPD1):c.220-14G>C	GPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2516783	NM_005276.4(GPD1):c.237_239del (p.Val80del)	GPD1 (V80del)	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	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 3101276	NM_005276.4(GPD1):c.252G>C (p.Glu84Asp)	GPD1 (E84D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2313695	NM_005276.4(GPD1):c.275T>A (p.Val92Glu)	GPD1 (V92E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3101277	NM_005276.4(GPD1):c.287A>G (p.Gln96Arg)	GPD1 (Q96R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1209064	NM_005276.4(GPD1):c.361-73G>A	GPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223612	NM_005276.4(GPD1):c.361-56G>A	GPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 29741	NM_005276.4(GPD1):c.361-1G>C	GPD1	Single nucleotide variant (splice acceptor variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GPathogenic
Select item 702598	NM_005276.4(GPD1):c.361G>A (p.Gly121Arg)	GPD1 (G121R +1 more)	Single nucleotide variant (missense variant)	GPD1-related condition +2 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)	GPD1-related condition +1 more	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 2383648	NM_005276.4(GPD1):c.394A>G (p.Ile132Val)	GPD1 (I109V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Transient infantile hypertriglyceridemia and hepatosteatosis +1 more	GConflicting classifications of pathogenicity
Select item 3101278	NM_005276.4(GPD1):c.407T>C (p.Ile136Thr)	GPD1 (I113T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040977	NM_005276.4(GPD1):c.414G>A (p.Glu138=)	GPD1	Single nucleotide variant (synonymous variant)	GPD1-related condition	GLikely benign
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)	not provided +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 1203095	NM_005276.4(GPD1):c.499+172A>T	GPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196723	NM_005276.4(GPD1):c.500-180C>G	GPD1	Single nucleotide variant (intron 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 2362384	NM_005276.4(GPD1):c.559C>T (p.Arg187Cys)	GPD1 (R164C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2360721	NM_005276.4(GPD1):c.562A>T (p.Ile188Phe)	GPD1 (I188F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2241821	NM_005276.4(GPD1):c.604G>T (p.Ala202Ser)	GPD1 (A202S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2283556	NM_005276.4(GPD1):c.610A>G (p.Lys204Glu)	GPD1 (K181E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1286661	NM_005276.4(GPD1):c.613-101T>C	GPD1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2572391	NM_005276.4(GPD1):c.666C>G (p.Asn222Lys)	GPD1 (N199K +1 more)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GUncertain significance
Select item 1200045	NM_005276.4(GPD1):c.674C>T (p.Ala225Val)	GPD1 (A202V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 702730	NM_005276.4(GPD1):c.675G>A (p.Ala225=)	GPD1	Single nucleotide variant (synonymous variant)	GPD1-related condition +1 more	GBenign/Likely benign
Select item 2524676	NM_005276.4(GPD1):c.676G>A (p.Ala226Thr)	GPD1 (A203T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 157542	NM_005276.4(GPD1):c.686G>C (p.Arg229Pro)	GPD1 (R229P +1 more)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GPathogenic/Likely pathogenic
Select item 594733	NM_005276.4(GPD1):c.707T>C (p.Ile236Thr)	GPD1 (I236T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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	GLikely benign
Select item 419206	NM_005276.4(GPD1):c.751dup (p.Thr251fs)	GPD1 (T228fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1337737	NM_005276.4(GPD1):c.808A>G (p.Asn270Asp)	GPD1 (N247D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1460645	NM_005276.4(GPD1):c.812G>A (p.Arg271Gln)	GPD1 (R248Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3101280	NM_005276.4(GPD1):c.829T>G (p.Phe277Val)	GPD1 (F254V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 +1 more	GLikely benign
Select item 703251	NM_005276.4(GPD1):c.846+10G>A	GPD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1515754	NM_005276.4(GPD1):c.847-3C>A	GPD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3101281	NM_005276.4(GPD1):c.847-1G>A	GPD1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	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 +1 more	GBenign/Likely benign
Select item 2852869	NM_005276.4(GPD1):c.861G>A (p.Leu287=)	GPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 521341	NM_005276.4(GPD1):c.866_867del (p.Lys289fs)	GPD1 (K266fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
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)	GPD1-related condition +1 more	GBenign
Select item 1306593	NM_005276.4(GPD1):c.901G>A (p.Glu301Lys)	GPD1 (E278K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627532	NM_005276.4(GPD1):c.905C>G (p.Thr302Arg)	GPD1 (T279R +1 more)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GUncertain significance
Select item 3101282	NM_005276.4(GPD1):c.911G>A (p.Arg304Gln)	GPD1 (R281Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1309294	NM_005276.4(GPD1):c.917T>G (p.Leu306Arg)	GPD1 (L283R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306157	NM_005276.4(GPD1):c.947T>C (p.Val316Ala)	GPD1 (V293A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 804465	NM_005276.4(GPD1):c.953+1G>A	GPD1	Single nucleotide variant (splice donor variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GLikely pathogenic

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