GPD2[gene] and "single gene"[properties] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2259459	NM_000408.5(GPD2):c.29C>T (p.Thr10Met)	GPD2 (T10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101292	NM_000408.5(GPD2):c.76C>G (p.Gln26Glu)	GPD2 (Q26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282144	NM_000408.5(GPD2):c.122A>C (p.Lys41Thr)	GPD2 (K41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048119	NM_000408.5(GPD2):c.135C>T (p.Cys45=)	GPD2	Single nucleotide variant (synonymous variant)	GPD2-related disorder	GLikely benign
Select item 3236605	NM_000408.5(GPD2):c.223A>G (p.Ile75Val)	GPD2 (I75V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 382910	NM_000408.5(GPD2):c.233G>A (p.Gly78Glu)	GPD2 (G78E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2321529	NM_000408.5(GPD2):c.254C>T (p.Ala85Val)	GPD2 (A85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282147	NM_000408.5(GPD2):c.292G>C (p.Val98Leu)	GPD2 (V98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358767	NM_000408.5(GPD2):c.303T>G (p.Asp101Glu)	GPD2 (D101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736230	NM_000408.5(GPD2):c.363T>C (p.Tyr121=)	GPD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2457005	NM_000408.5(GPD2):c.408G>A (p.Met136Ile)	GPD2 (M136I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101289	NM_000408.5(GPD2):c.529A>G (p.Ile177Val)	GPD2 (I177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048014	NM_000408.5(GPD2):c.579T>C (p.Tyr193=)	GPD2	Single nucleotide variant (synonymous variant)	GPD2-related disorder	GLikely benign
Select item 3048678	NM_000408.5(GPD2):c.580G>A (p.Val194Ile)	GPD2 (V194I)	Single nucleotide variant (missense variant)	GPD2-related disorder	GBenign
Select item 449030	NM_000408.5(GPD2):c.614C>T (p.Pro205Leu)	GPD2 (P205L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2510234	NM_000408.5(GPD2):c.616A>G (p.Met206Val)	GPD2 (M206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410340	NM_000408.5(GPD2):c.632A>G (p.Lys211Arg)	GPD2 (K211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101290	NM_000408.5(GPD2):c.653A>G (p.Tyr218Cys)	GPD2 (Y218C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268852	NM_000408.5(GPD2):c.672C>G (p.Asn224Lys)	GPD2 (N224K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208998	NM_000408.5(GPD2):c.673G>A (p.Asp225Asn)	GPD2 (D225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282149	NM_000408.5(GPD2):c.697G>C (p.Ala233Pro)	GPD2 (A233P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101291	NM_000408.5(GPD2):c.758T>C (p.Leu253Pro)	GPD2 (L253P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400922	NM_000408.5(GPD2):c.767C>T (p.Thr256Ile)	GPD2 (T256I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 385326	NM_000408.5(GPD2):c.852A>G (p.Lys284=)	GPD2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2292443	NM_000408.5(GPD2):c.881C>G (p.Thr294Arg)	GPD2 (T294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495693	NM_000408.5(GPD2):c.892C>T (p.Arg298Cys)	GPD2 (R298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254392	NM_000408.5(GPD2):c.893G>A (p.Arg298His)	GPD2 (R298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049096	NM_000408.5(GPD2):c.913G>A (p.Ala305Thr)	GPD2 (A305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713776	NM_000408.5(GPD2):c.922A>G (p.Ile308Val)	GPD2 (I308V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2616607	NM_000408.5(GPD2):c.923T>A (p.Ile308Asn)	GPD2 (I308N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101284	NM_000408.5(GPD2):c.1049C>T (p.Thr350Met)	GPD2 (T350M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242254	NM_000408.5(GPD2):c.1118A>G (p.Asn373Ser)	GPD2 (N373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533022	NM_000408.5(GPD2):c.1171A>G (p.Arg391Gly)	GPD2 (R391G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041504	NM_000408.5(GPD2):c.1224C>G (p.Pro408=)	GPD2	Single nucleotide variant (synonymous variant)	GPD2-related disorder	GLikely benign
Select item 2337709	NM_000408.5(GPD2):c.1240C>G (p.Gln414Glu)	GPD2 (Q414E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309250	NM_000408.5(GPD2):c.1246A>G (p.Ile416Val)	GPD2 (I416V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282146	NM_000408.5(GPD2):c.1322G>A (p.Arg441Gln)	GPD2 (R441Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204728	NM_000408.5(GPD2):c.1435C>A (p.Leu479Ile)	GPD2 (L479I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725226	NM_000408.5(GPD2):c.1452G>A (p.Val484=)	GPD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2305128	NM_000408.5(GPD2):c.1474G>A (p.Glu492Lys)	GPD2 (E492K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101285	NM_000408.5(GPD2):c.1495G>A (p.Ala499Thr)	GPD2 (A499T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3101286	NM_000408.5(GPD2):c.1498A>C (p.Thr500Pro)	GPD2 (T500P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333688	NM_000408.5(GPD2):c.1533G>C (p.Met511Ile)	GPD2 (M511I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589805	NM_000408.5(GPD2):c.1534G>T (p.Ala512Ser)	GPD2 (A512S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282150	NM_000408.5(GPD2):c.1559C>G (p.Pro520Arg)	GPD2 (P520R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101287	NM_000408.5(GPD2):c.1573C>T (p.Arg525Cys)	GPD2 (R525C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407089	NM_000408.5(GPD2):c.1645G>A (p.Val549Met)	GPD2 (V549M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101288	NM_000408.5(GPD2):c.1660C>T (p.Arg554Cys)	GPD2 (R554C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330277	NM_000408.5(GPD2):c.1669C>T (p.Arg557Cys)	GPD2 (R557C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037525	NM_000408.5(GPD2):c.1726C>G (p.Leu576Val)	GPD2 (L576V)	Single nucleotide variant (missense variant)	GPD2-related disorder	GLikely benign
Select item 2232952	NM_000408.5(GPD2):c.1806A>C (p.Glu602Asp)	GPD2 (E602D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282145	NM_000408.5(GPD2):c.1823G>A (p.Arg608Gln)	GPD2 (R608Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409320	NM_000408.5(GPD2):c.1846T>C (p.Ser616Pro)	GPD2 (S616P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16081	NM_000408.5(GPD2):c.1904T>C (p.Phe635Ser)	GPD2 (F635S)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus	GPathogenic
Select item 2286440	NM_000408.5(GPD2):c.2085G>C (p.Arg695Ser)	GPD2 (R695S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049503	NM_000408.5(GPD2):c.2146G>A (p.Val716Ile)	GPD2 (V716I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 56