LOC130062945[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 1361141	NM_000156.6(GAMT):c.181+16C>T	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 385227	NM_000156.6(GAMT):c.181+16C>A	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome +1 more	GLikely benign
Select item 3002553	NM_000156.6(GAMT):c.181+13C>G	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2821427	NM_000156.6(GAMT):c.181+12C>T	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1979065	NM_000156.6(GAMT):c.181+10G>A	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 514443	NM_000156.6(GAMT):c.181+10G>C	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome +1 more	GLikely benign
Select item 508318	NM_000156.6(GAMT):c.181+9C>G	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome +1 more	GLikely benign
Select item 2796476	NM_000156.6(GAMT):c.181+8C>T	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1631766	NM_000156.6(GAMT):c.181+7C>T	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1098274	NM_000156.6(GAMT):c.158_181+7del	GAMT, LOC130062945	Deletion (splice donor variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic
Select item 1068105	NM_000156.6(GAMT):c.163_181+6del	GAMT, LOC130062945	Deletion (splice donor variant)	Cerebral creatine deficiency syndrome	GLikely pathogenic
Select item 1508606	NM_000156.6(GAMT):c.181+2T>C	GAMT, LOC130062945	Single nucleotide variant (splice donor variant)	Cerebral creatine deficiency syndrome	GLikely pathogenic
Select item 1098275	NM_000156.6(GAMT):c.181G>A (p.Gly61Arg)	GAMT, LOC130062945 (G61R)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GLikely pathogenic
Select item 1415193	NM_000156.6(GAMT):c.179A>C (p.Lys60Thr)	GAMT, LOC130062945 (K60T)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 568865	NM_000156.6(GAMT):c.179A>G (p.Lys60Arg)	GAMT, LOC130062945 (K60R)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 640432	NM_000156.6(GAMT):c.172TCC[3] (p.Ser59dup)	GAMT, LOC130062945	Microsatellite (inframe_insertion)	not provided +3 more	GUncertain significance
Select item 205604	NM_000156.6(GAMT):c.160GCC[5] (p.Ala57dup)	GAMT, LOC130062945	Microsatellite (inframe_insertion)	not specified	GUncertain significance
Select item 1603735	NM_000156.6(GAMT):c.171C>G (p.Ala57=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1443570	NM_000156.6(GAMT):c.164_171del (p.Ala55fs)	GAMT, LOC130062945 (A55fs)	Deletion (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2446455	NM_000156.6(GAMT):c.170C>A (p.Ala57Asp)	GAMT, LOC130062945 (A57D)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 835475	NM_000156.6(GAMT):c.170C>T (p.Ala57Val)	GAMT, LOC130062945 (A57V)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2918600	NM_000156.6(GAMT):c.168C>T (p.Ala56=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 544255	NM_000156.6(GAMT):c.167C>T (p.Ala56Val)	GAMT, LOC130062945 (A56V)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GUncertain significance
Select item 1989243	NM_000156.6(GAMT):c.166G>A (p.Ala56Thr)	GAMT, LOC130062945 (A56T)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1538513	NM_000156.6(GAMT):c.165C>T (p.Ala55=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 569847	NM_000156.6(GAMT):c.165C>A (p.Ala55=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1104743	NM_000156.6(GAMT):c.162C>T (p.Ala54=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1088989	NM_000156.6(GAMT):c.162C>G (p.Ala54=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 504318	NM_000156.6(GAMT):c.159_161dup (p.Ala57dup)	GAMT, LOC130062945	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2446454	NM_000156.6(GAMT):c.160G>C (p.Ala54Pro)	GAMT, LOC130062945 (A54P)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2189402	NM_000156.6(GAMT):c.157_158inv (p.Leu53Arg)	GAMT, LOC130062945 (L53R)	Inversion (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1119743	NM_000156.6(GAMT):c.156G>A (p.Ala52=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2413361	NM_000156.6(GAMT):c.155C>G (p.Ala52Gly)	GAMT, LOC130062945 (A52G)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 205603	NM_000156.6(GAMT):c.154_155delinsTT (p.Ala52Leu)	GAMT, LOC130062945 (A52L)	Indel (missense variant)	not specified	GUncertain significance
Select item 2097117	NM_000156.6(GAMT):c.154G>T (p.Ala52Ser)	GAMT, LOC130062945 (A52S)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1059226	NM_000156.6(GAMT):c.154G>A (p.Ala52Thr)	GAMT, LOC130062945 (A52T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 377908	NM_000156.6(GAMT):c.153C>T (p.His51=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome +1 more	GLikely benign
Select item 2138184	NM_000156.6(GAMT):c.152A>C (p.His51Pro)	GAMT, LOC130062945 (H51P)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 1524952	NM_000156.6(GAMT):c.152A>T (p.His51Leu)	GAMT, LOC130062945 (H51L)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 429489	NM_000156.6(GAMT):c.151C>G (p.His51Asp)	LOC130062945, GAMT (H51D)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GUncertain significance
Select item 3241678	NM_000156.6(GAMT):c.148_149dup (p.Met50fs)	GAMT, LOC130062945 (M50fs)	Microsatellite (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic
Select item 566179	NM_000156.6(GAMT):c.150G>A (p.Met50Ile)	GAMT, LOC130062945 (M50I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 8305	NM_000156.6(GAMT):c.148A>C (p.Met50Leu)	GAMT, LOC130062945 (M50L)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 1094588	NM_000156.6(GAMT):c.147T>C (p.Tyr49=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1070219	NM_000156.6(GAMT):c.144dup (p.Tyr49fs)	GAMT, LOC130062945 (Y49fs)	Duplication (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 695019	NM_000156.6(GAMT):c.145del (p.Tyr49fs)	LOC130062945, GAMT (Y49fs)	Deletion (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 2844623	NM_000156.6(GAMT):c.144del (p.Tyr49fs)	GAMT, LOC130062945 (Y49fs)	Deletion (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2816495	NM_000156.6(GAMT):c.144C>T (p.Pro48=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1304798	NM_000156.6(GAMT):c.142C>T (p.Pro48Ser)	GAMT, LOC130062945 (P48S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1108014	NM_000156.6(GAMT):c.141C>G (p.Thr47=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 478012	NM_000156.6(GAMT):c.141C>A (p.Thr47=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 328351	NM_000156.6(GAMT):c.140C>T (p.Thr47Ile)	GAMT, LOC130062945 (T47I)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance
Select item 1573701	NM_000156.6(GAMT):c.138G>A (p.Glu46=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1982932	NM_000156.6(GAMT):c.128_135dup (p.Glu46fs)	GAMT, LOC130062945 (E46fs)	Duplication (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2419155	NM_000156.6(GAMT):c.134G>A (p.Trp45Ter)	GAMT, LOC130062945 (W45*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 328352	NM_000156.6(GAMT):c.133T>A (p.Trp45Arg)	GAMT, LOC130062945 (W45R)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 2060345	NM_000156.6(GAMT):c.131G>A (p.Arg44His)	GAMT, LOC130062945 (R44H)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 657963	NM_000156.6(GAMT):c.131G>C (p.Arg44Pro)	GAMT, LOC130062945 (R44P)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2090514	NM_000156.6(GAMT):c.130C>G (p.Arg44Gly)	GAMT, LOC130062945 (R44G)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 205602	NM_000156.6(GAMT):c.128A>G (p.Glu43Gly)	GAMT, LOC130062945 (E43G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403508	NM_000156.6(GAMT):c.127G>C (p.Glu43Gln)	GAMT, LOC130062945 (E43Q)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 205601	NM_000156.6(GAMT):c.124A>G (p.Met42Val)	GAMT, LOC130062945 (M42V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 589883	NM_000156.6(GAMT):c.122T>C (p.Val41Ala)	GAMT, LOC130062945 (V41A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1087506	NM_000156.6(GAMT):c.120G>A (p.Pro40=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2136398	NM_000156.6(GAMT):c.119C>G (p.Pro40Arg)	GAMT, LOC130062945 (P40R)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 569288	NM_000156.6(GAMT):c.119C>T (p.Pro40Leu)	GAMT, LOC130062945 (P40L)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1448647	NM_000156.6(GAMT):c.118C>T (p.Pro40Ser)	GAMT, LOC130062945 (P40S)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2683727	NM_000156.6(GAMT):c.115A>G (p.Lys39Glu)	GAMT, LOC130062945 (K39E)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 1051517	NM_000156.6(GAMT):c.115A>C (p.Lys39Gln)	GAMT, LOC130062945 (K39Q)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2675836	NM_000156.6(GAMT):c.113dup (p.Lys39fs)	GAMT, LOC130062945 (K39fs)	Duplication (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic
Select item 1305363	NM_000156.6(GAMT):c.114C>T (p.Gly38=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2143904	NM_000156.6(GAMT):c.112G>A (p.Gly38Ser)	GAMT, LOC130062945 (G38S)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1639683	NM_000156.6(GAMT):c.108C>T (p.Ile36=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 966479	NM_000156.6(GAMT):c.106A>G (p.Ile36Val)	LOC130062945, GAMT (I36V)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 795990	NM_000156.6(GAMT):c.105C>T (p.Arg35=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1100812	NM_000156.6(GAMT):c.102G>T (p.Leu34=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1127759	NM_000156.6(GAMT):c.100C>T (p.Leu34=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1147132	NM_000156.6(GAMT):c.96G>A (p.Thr32=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1766473	NM_000156.6(GAMT):c.92A>T (p.Asp31Val)	GAMT, LOC130062945 (D31V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 939992	NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs)	GAMT, LOC130062945 (D31fs)	Insertion (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 1671608	NM_000156.6(GAMT):c.90G>A (p.Ala30=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1944953	NM_000156.6(GAMT):c.89C>T (p.Ala30Val)	GAMT, LOC130062945 (A30V)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1619434	NM_000156.6(GAMT):c.87A>T (p.Ala29=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1056003	NM_000156.6(GAMT):c.85G>A (p.Ala29Thr)	GAMT, LOC130062945 (A29T)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2123720	NM_000156.6(GAMT):c.82dup (p.Asp28fs)	GAMT, LOC130062945 (D28fs)	Duplication (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2876649	NM_000156.6(GAMT):c.81C>T (p.Tyr27=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 167131	NM_000156.6(GAMT):c.79T>C (p.Tyr27His)	GAMT, LOC130062945 (Y27H)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GBenign FDA Recognized database
Select item 2820259	NM_000156.6(GAMT):c.72C>A (p.Pro24=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2813493	NM_000156.6(GAMT):c.69G>C (p.Ala23=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 205599	NM_000156.6(GAMT):c.68C>T (p.Ala23Val)	GAMT, LOC130062945 (A23V)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GUncertain significance
Select item 2164666	NM_000156.6(GAMT):c.66G>T (p.Ala22=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign

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