GPT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 58434	GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3	ADCK5, ARHGAP39 +47 more	Copy number gain	See cases	GUncertain significance
Select item 152001	GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3	ARHGAP39, C8orf82 +21 more	Copy number gain	See cases	GBenign
Select item 2396520	NM_005309.3(GPT):c.22C>T (p.Arg8Trp)	GPT (R8W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710733	NM_005309.3(GPT):c.32C>A (p.Ala11Glu)	GPT (A11E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3102082	NM_005309.3(GPT):c.35T>A (p.Val12Glu)	GPT (V12E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 16088	NM_005309.3(GPT):c.40C>G (p.His14Asp)	GPT (H14D)	Single nucleotide variant (missense variant)	GLUTAMIC PYRUVATE TRANSAMINASE POLYMORPHISM	GBenign
Select item 3102087	NM_005309.3(GPT):c.86G>A (p.Arg29His)	GPT (R29H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458077	NM_005309.3(GPT):c.92G>A (p.Arg31Gln)	GPT (R31Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257678	NM_005309.3(GPT):c.110T>C (p.Val37Ala)	GPT (V37A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399145	NM_005309.3(GPT):c.113G>A (p.Arg38His)	GPT (R38H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262298	NM_005309.3(GPT):c.158G>A (p.Arg53His)	GPT (R53H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714261	NM_005309.3(GPT):c.174G>A (p.Lys58=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2358946	NM_005309.3(GPT):c.193C>T (p.Arg65Cys)	GPT (R65C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102081	NM_005309.3(GPT):c.205G>A (p.Gly69Arg)	GPT (G69R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710602	NM_005309.3(GPT):c.231G>A (p.Arg77=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737701	NM_005309.3(GPT):c.252+10C>T	GPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2269504	NM_005309.3(GPT):c.260C>T (p.Ala87Val)	GPT (A87V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723955	NM_005309.3(GPT):c.306C>T (p.Asp102=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773406	NM_005309.3(GPT):c.320G>A (p.Arg107Lys)	GPT (R107K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720312	NM_005309.3(GPT):c.327G>A (p.Glu109=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570046	NM_005309.3(GPT):c.329G>A (p.Arg110His)	GPT (R110H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 743546	NM_005309.3(GPT):c.381C>T (p.Ser127=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747412	NM_005309.3(GPT):c.441C>T (p.Ile147=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2405091	NM_005309.3(GPT):c.493G>A (p.Val165Met)	GPT (V165M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102083	NM_005309.3(GPT):c.536G>A (p.Arg179His)	GPT (R179H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223807	NM_005309.3(GPT):c.539C>T (p.Thr180Met)	GPT (T180M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 740651	NM_005309.3(GPT):c.567C>T (p.Tyr189=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 793479	NM_005309.3(GPT):c.592G>C (p.Glu198Gln)	GPT (E198Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 788823	NM_005309.3(GPT):c.600C>T (p.Gly200=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775271	NM_005309.3(GPT):c.676G>T (p.Gly226Cys)	GPT (G226C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3102084	NM_005309.3(GPT):c.737C>T (p.Thr246Ile)	GPT (T246I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2052187	NM_005309.3(GPT):c.739+43_739+84del	GPT	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 3102085	NM_005309.3(GPT):c.748C>A (p.Gln250Lys)	GPT (Q250K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556073	NM_005309.3(GPT):c.751A>C (p.Thr251Pro)	GPT (T251P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555261	NM_005309.3(GPT):c.757G>A (p.Glu253Lys)	GPT (E253K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731229	NM_005309.3(GPT):c.766G>C (p.Glu256Gln)	GPT (E256Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 782283	NM_005309.3(GPT):c.796C>G (p.Arg266Gly)	GPT (R266G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2336171	NM_005309.3(GPT):c.800T>C (p.Leu267Pro)	GPT (L267P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102086	NM_005309.3(GPT):c.835G>C (p.Val279Leu)	GPT (V279L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721296	NM_005309.3(GPT):c.840C>T (p.Tyr280=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756084	NM_005309.3(GPT):c.956+9G>A	GPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3102089	NM_005309.3(GPT):c.968G>C (p.Arg323Pro)	GPT (R323P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102088	NM_005309.3(GPT):c.968G>A (p.Arg323His)	GPT (R323H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323816	NM_005309.3(GPT):c.1090C>T (p.Pro364Ser)	GPT (P364S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615458	NM_005309.3(GPT):c.1093C>A (p.Pro365Thr)	GPT (P365T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608412	NM_005309.3(GPT):c.1096G>A (p.Ala366Thr)	GPT (A366T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522922	NM_005309.3(GPT):c.1097C>T (p.Ala366Val)	GPT (A366V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102074	NM_005309.3(GPT):c.1102A>T (p.Thr368Ser)	GPT (T368S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3102075	NM_005309.3(GPT):c.1118C>T (p.Ala373Val)	GPT (A373V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102076	NM_005309.3(GPT):c.1193A>G (p.Asn398Ser)	GPT (N398S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217191	NM_005309.3(GPT):c.1211G>A (p.Ser404Asn)	GPT (S404N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388071	NM_005309.3(GPT):c.1252G>A (p.Val418Met)	GPT (V418M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371652	NM_005309.3(GPT):c.1262C>A (p.Pro421His)	GPT (P421H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255431	NM_005309.3(GPT):c.1267C>T (p.Arg423Trp)	GPT (R423W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 756224	NM_005309.3(GPT):c.1280G>A (p.Arg427His)	GPT (R427H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3102077	NM_005309.3(GPT):c.1285C>G (p.Gln429Glu)	GPT (Q429E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 738033	NM_005309.3(GPT):c.1287+8G>A	GPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717393	NM_005309.3(GPT):c.1288G>C (p.Glu430Gln)	GPT (E430Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2221439	NM_005309.3(GPT):c.1324C>T (p.Arg442Cys)	GPT (R442C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319209	NM_005309.3(GPT):c.1340C>A (p.Thr447Asn)	GPT (T447N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717394	NM_005309.3(GPT):c.1354G>C (p.Val452Leu)	GPT (V452L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2208291	NM_005309.3(GPT):c.1378C>T (p.Arg460Trp)	GPT (R460W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102078	NM_005309.3(GPT):c.1399C>T (p.Arg467Trp)	GPT (R467W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102079	NM_005309.3(GPT):c.1430T>C (p.Leu477Pro)	GPT (L477P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322901	NM_005309.3(GPT):c.1432C>T (p.Arg478Trp)	GPT (R478W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102080	NM_005309.3(GPT):c.1433G>A (p.Arg478Gln)	GPT (R478Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 795901	NM_005309.3(GPT):c.1434G>A (p.Arg478=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	OPLAH, PARP10 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684562	GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3	ADCK5, ARHGAP39 +40 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic

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