GPD2[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154896	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1	LOC129934943, LOC129934944 +74 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 236378	Single allele	ACVR1C, LOC129934963 +61 more	Deletion	Autism spectrum disorder	GLikely pathogenic
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 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)	Type 2 diabetes mellitus	GUncertain significance
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 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	GUncertain significance
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 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)	GPD2-related disorder +1 more	GBenign/Likely 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 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	GUncertain significance
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 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 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
Select item 2684808	GRCh37/hg19 2q24.1(chr2:156828817-158377885)x1	CYTIP, ERMN +3 more	Copy number loss	not provided	GPathogenic
Select item 1807710	GRCh37/hg19 2q24.1(chr2:156996368-157372032)x1	GPD2, NR4A2	Copy number loss	not provided	GLikely pathogenic
Select item 1807678	GRCh37/hg19 2q24.1(chr2:156528912-158233672)x3	ERMN, GALNT5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340408	GRCh37/hg19 2q23.3-24.1(chr2:154852961-159126250)x1	ACVR1, ACVR1C +9 more	Copy number loss	not provided	GPathogenic
Select item 1340352	GRCh37/hg19 2q23.3-24.1(chr2:154328530-158759642)x1	ACVR1, ACVR1C +8 more	Copy number loss	not provided	GPathogenic
Select item 1339787	GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3	ACVR1, ACVR1C +17 more	Copy number gain	not provided	Gnot provided
Select item 980600	GRCh37/hg19 2q24.1(chr2:156696086-159450561)x1	ACVR1C, GALNT5 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 814333	GRCh37/hg19 2q24.1(chr2:157170397-157846289)x3	GPD2, NR4A2	Copy number gain	not provided	GUncertain significance
Select item 814332	GRCh37/hg19 2q24.1(chr2:157117939-158422574)x1	GALNT5, CYTIP +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 688498	GRCh37/hg19 2q24.1(chr2:156773914-157954702)x3	GPD2, NR4A2	Copy number gain	not provided	GUncertain significance
Select item 688121	GRCh37/hg19 2q24.1(chr2:156976385-157350281)x1	GPD2, NR4A2	Copy number loss	not provided	GUncertain significance
Select item 686697	GRCh37/hg19 2q24.1(chr2:157124370-157470128)x1	GPD2, NR4A2	Copy number loss	not provided	GUncertain significance
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 76