256297[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 137

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 444140	NC_000010.11:g.23163713A>G	PTF1A	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444139	NC_000010.11:g.23167584A>C	PTF1A	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444138	NC_000010.11:g.23177805G>A	PTF1A	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444146	NC_000010.11:g.23187502G>A	PTF1A	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444143	NC_000010.11:g.23189850T>G	PTF1A	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 1283982	NC_000010.11:g.23192288A>G	PTF1A	Single nucleotide variant	not provided	GBenign
Select item 880486	NM_178161.3(PTF1A):c.8C>T (p.Ala3Val)	PTF1A (A3V)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +2 more	GUncertain significance
Select item 451673	NM_178161.3(PTF1A):c.44C>T (p.Ala15Val)	PTF1A (A15V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2789528	NM_178161.3(PTF1A):c.81C>T (p.Phe27=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2540516	NM_178161.3(PTF1A):c.82A>C (p.Thr28Pro)	PTF1A (T28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3023881	NM_178161.3(PTF1A):c.93T>G (p.Ser31=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 299621	NM_178161.3(PTF1A):c.102C>T (p.Asp34=)	PTF1A	Single nucleotide variant (synonymous variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +1 more	GBenign/Likely benign
Select item 1668908	NM_178161.3(PTF1A):c.105C>G (p.Pro35=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 880487	NM_178161.3(PTF1A):c.115G>A (p.Gly39Ser)	PTF1A (G39S)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	GUncertain significance
Select item 3220678	NM_178161.3(PTF1A):c.127C>A (p.Leu43Met)	PTF1A (L43M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1621324	NM_178161.3(PTF1A):c.132G>T (p.Ala44=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898510	NM_178161.3(PTF1A):c.133G>T (p.Asp45Tyr)	PTF1A (D45Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3220679	NM_178161.3(PTF1A):c.152A>G (p.Glu51Gly)	PTF1A (E51G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 299622	NM_178161.3(PTF1A):c.162C>T (p.Ser54=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1488204	NM_178161.3(PTF1A):c.172C>T (p.His58Tyr)	PTF1A (H58Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1914944	NM_178161.3(PTF1A):c.186C>T (p.Tyr62=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408333	NM_178161.3(PTF1A):c.187C>T (p.Arg63Cys)	PTF1A (R63C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3311272	NM_178161.3(PTF1A):c.190G>A (p.Asp64Asn)	PTF1A (D64N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1965356	NM_178161.3(PTF1A):c.198G>C (p.Ala66=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 880488	NM_178161.3(PTF1A):c.201C>T (p.Cys67=)	PTF1A	Single nucleotide variant (synonymous variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2752100	NM_178161.3(PTF1A):c.202C>T (p.Leu68=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732241	NM_178161.3(PTF1A):c.207G>A (p.Leu69=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729022	NM_178161.3(PTF1A):c.219G>C (p.Ala73=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609504	NM_178161.3(PTF1A):c.225G>T (p.Pro75=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 880489	NM_178161.3(PTF1A):c.229G>A (p.Ala77Thr)	PTF1A (A77T)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +1 more	GLikely benign
Select item 2786552	NM_178161.3(PTF1A):c.240G>T (p.Ala80=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017843	NM_178161.3(PTF1A):c.258G>T (p.Ser86=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 299623	NM_178161.3(PTF1A):c.263G>A (p.Gly88Asp)	PTF1A (G88D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 723128	NM_178161.3(PTF1A):c.264C>T (p.Gly88=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 549537	NM_178161.3(PTF1A):c.265C>A (p.Leu89Ile)	PTF1A (L89I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 130054	NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala)	PTF1A (G90A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2270628	NM_178161.3(PTF1A):c.274C>A (p.Pro92Thr)	PTF1A (P92T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 917466	NM_178161.3(PTF1A):c.283G>C (p.Gly95Arg)	PTF1A (G95R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance
Select item 1970856	NM_178161.3(PTF1A):c.317C>A (p.Ala106Glu)	PTF1A (A106E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 877718	NM_178161.3(PTF1A):c.341C>T (p.Ser114Leu)	PTF1A (S114L)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	GUncertain significance
Select item 917467	NM_178161.3(PTF1A):c.343C>T (p.Pro115Ser)	PTF1A (P115S)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance
Select item 3054289	NM_178161.3(PTF1A):c.357C>G (p.Pro119=)	PTF1A	Single nucleotide variant (synonymous variant)	PTF1A-related disorder	GLikely benign
Select item 877719	NM_178161.3(PTF1A):c.362G>A (p.Cys121Tyr)	PTF1A (C121Y)	Single nucleotide variant (missense variant)	Pancreatic agenesis 2 +1 more	GUncertain significance
Select item 2245033	NM_178161.3(PTF1A):c.364C>G (p.Leu122Val)	PTF1A (L122V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245034	NM_178161.3(PTF1A):c.365T>G (p.Leu122Arg)	PTF1A (L122R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 299624	NM_178161.3(PTF1A):c.386C>T (p.Ala129Val)	PTF1A (A129V)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +2 more	GBenign/Likely benign
Select item 3220680	NM_178161.3(PTF1A):c.413T>C (p.Leu138Pro)	PTF1A (L138P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923654	NM_178161.3(PTF1A):c.417C>T (p.Arg139=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872277	NM_178161.3(PTF1A):c.429A>T (p.Gly143=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2196890	NM_178161.3(PTF1A):c.438_446del (p.Ala147_Ala149del)	PTF1A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 30651	NM_178161.3(PTF1A):c.437_460del (p.Ala146_Arg154delinsGly)	PTF1A	Deletion (inframe_indel)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	GPathogenic
Select item 1377460	NM_178161.3(PTF1A):c.445_452dup (p.Arg153fs)	PTF1A (R153fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 917468	NM_178161.3(PTF1A):c.440C>T (p.Ala147Val)	PTF1A (A147V)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance
Select item 877720	NM_178161.3(PTF1A):c.446C>T (p.Ala149Val)	PTF1A (A149V)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +2 more	GUncertain significance
Select item 877721	NM_178161.3(PTF1A):c.462G>T (p.Arg154=)	PTF1A	Single nucleotide variant (synonymous variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 436444	NM_178161.3(PTF1A):c.499G>A (p.Ala167Thr)	PTF1A (A167T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3220681	NM_178161.3(PTF1A):c.509T>G (p.Val170Gly)	PTF1A (V170G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 917469	NM_178161.3(PTF1A):c.520C>T (p.Arg174Trp)	PTF1A (R174W)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance
Select item 1338531	NM_178161.3(PTF1A):c.532del (p.Ser178fs)	PTF1A (S178fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2143070	NM_178161.3(PTF1A):c.549C>T (p.Phe183=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2246152	NM_178161.3(PTF1A):c.550G>C (p.Glu184Gln)	PTF1A (E184Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 800794	NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr)	PTF1A (P191T)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 299625	NM_178161.3(PTF1A):c.617G>T (p.Arg206Leu)	PTF1A (R206L)	Single nucleotide variant (missense variant)	Pancreatic agenesis 2 +1 more	GUncertain significance
Select item 2170808	NM_178161.3(PTF1A):c.624C>T (p.Ala208=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608217	NM_178161.3(PTF1A):c.629G>C (p.Gly210Ala)	PTF1A (G210A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 299626	NM_178161.3(PTF1A):c.654C>A (p.Leu218=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2195573	NM_178161.3(PTF1A):c.664G>T (p.Asp222Tyr)	PTF1A (D222Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987563	NM_178161.3(PTF1A):c.669G>T (p.Leu223=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2502253	NM_178161.3(PTF1A):c.673T>G (p.Leu225Val)	PTF1A (L225V)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +1 more	GUncertain significance
Select item 1942526	NM_178161.3(PTF1A):c.681C>T (p.Gly227=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003515	NM_178161.3(PTF1A):c.687C>T (p.Gly229=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916136	NM_178161.3(PTF1A):c.692G>A (p.Gly231Asp)	PTF1A (G231D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2569494	NM_178161.3(PTF1A):c.697T>G (p.Cys233Gly)	PTF1A (C233G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179361	NM_178161.3(PTF1A):c.703_720del (p.Gly235_Gly240del)	PTF1A	Deletion (inframe_deletion)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +2 more	GUncertain significance
Select item 3426	NM_178161.3(PTF1A):c.705dup (p.Pro236fs)	PTF1A (P236fs)	Duplication (frameshift variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	GPathogenic
Select item 265703	NM_178161.3(PTF1A):c.705del (p.Pro236fs)	PTF1A (P236fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2979102	NM_178161.3(PTF1A):c.705G>A (p.Gly235=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737643	NM_178161.3(PTF1A):c.705G>C (p.Gly235=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671155	NM_178161.3(PTF1A):c.711C>T (p.Gly237=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3311271	NM_178161.3(PTF1A):c.712G>T (p.Gly238Cys)	PTF1A (G238C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1979771	NM_178161.3(PTF1A):c.713G>A (p.Gly238Asp)	PTF1A (G238D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3220682	NM_178161.3(PTF1A):c.715G>A (p.Gly239Ser)	PTF1A (G239S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2079794	NM_178161.3(PTF1A):c.722G>A (p.Arg241His)	PTF1A (R241H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634547	NM_178161.3(PTF1A):c.728G>T (p.Gly243Val)	PTF1A (G243V)	Single nucleotide variant (missense variant)	PTF1A-related disorder	GUncertain significance
Select item 2534497	NM_178161.3(PTF1A):c.740C>T (p.Pro247Leu)	PTF1A (P247L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1719465	NM_178161.3(PTF1A):c.749A>T (p.Gln250Leu)	PTF1A (Q250L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3220683	NM_178161.3(PTF1A):c.757A>G (p.Lys253Glu)	PTF1A (K253E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2765881	NM_178161.3(PTF1A):c.765C>T (p.Ile255=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576993	NM_178161.3(PTF1A):c.784+1G>A	PTF1A	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 1236546	NM_178161.3(PTF1A):c.784+120A>G	PTF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295948	NM_178161.3(PTF1A):c.784+165_784+166del	PTF1A	Deletion (intron variant)	not provided	GBenign
Select item 1234986	NM_178161.3(PTF1A):c.784+166del	PTF1A	Deletion (intron variant)	not provided	GBenign
Select item 436445	NM_178161.3(PTF1A):c.785-10A>G	PTF1A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 130055	NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)	PTF1A (S263P)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 2359723	NM_178161.3(PTF1A):c.803A>C (p.Asp268Ala)	PTF1A (D268A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1307620	NM_178161.3(PTF1A):c.808G>C (p.Asp270His)	PTF1A (D270H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2982952	NM_178161.3(PTF1A):c.843C>A (p.Leu281=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 2