ClinVar for MedGen (Select 342845) - ClinVar

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

Links from MedGen

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237401	NM_001807.6(CEL):c.382G>A (p.Ala128Thr)	CEL (A128T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2921142	NM_001807.6(CEL):c.526G>A (p.Ala176Thr)	CEL (A176T)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2921090	NM_001807.6(CEL):c.203A>T (p.His68Leu)	CEL (H68L)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2688760	NM_001807.6(CEL):c.2123A>T (p.Asp708Val)	CEL (D708V)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2665071	NM_001807.6(CEL):c.341-83C>T	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2584560	NM_001807.6(CEL):c.1410_1411delinsACTC (p.Thr471fs)	CEL (T471fs)	Indel (frameshift variant)	Maturity-onset diabetes of the young type 8 +1 more	GConflicting classifications of pathogenicity
Select item 2582711	NM_001807.6(CEL):c.277A>C (p.Ser93Arg)	CEL (S93R)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2502160	NM_001807.6(CEL):c.1427A>G (p.Gln476Arg)	CEL (Q476R)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8 +1 more	GConflicting classifications of pathogenicity
Select item 2439894	NM_001807.6(CEL):c.497del (p.Gly166fs)	CEL (G166fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2438974	NM_001807.6(CEL):c.1875del (p.Val626fs)	CEL (V626fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 8	GLikely pathogenic
Select item 1809699	NM_001807.6(CEL):c.718A>G (p.Ser240Gly)	CEL (S240G)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 1803925	Single allele	CEL	Duplication	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 1803910	NM_001807.6(CEL):c.472G>A (p.Val158Met)	CEL (V158M)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8 +1 more	GUncertain significance
Select item 1803886	Single allele	CEL	Deletion	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 1803880	Single allele	CEL	Deletion	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 1677928	NM_001807.6(CEL):c.895+2dup	CEL	Duplication (splice donor variant)	not provided +1 more	GUncertain significance
Select item 1337109	NM_001807.6(CEL):c.99G>C (p.Val33=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 1328326	NM_001807.6(CEL):c.777+7G>A	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8	GLikely benign
Select item 1302296	NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer)	CEL	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 1301626	NM_001807.6(CEL):c.337C>T (p.Gln113Ter)	CEL (Q113*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1288982	NM_001807.6(CEL):c.1659C>G (p.Thr553=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GBenign
Select item 1219929	NM_001807.6(CEL):c.554G>A (p.Arg185Gln)	CEL (R185Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1216982	NM_001807.6(CEL):c.1689A>G (p.Thr563=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 1214762	NM_001807.6(CEL):c.1335C>T (p.Pro445=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 1211306	NM_001807.6(CEL):c.1692G>T (p.Gly564=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1202347	NM_001807.6(CEL):c.1833G>C (p.Gly611=)	CEL	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 1202123	NM_001807.6(CEL):c.1716C>G (p.Pro572=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1194575	NM_001807.6(CEL):c.1485-8C>T	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8 +1 more	GBenign/Likely benign
Select item 1191595	NM_001807.6(CEL):c.1677T>C (p.Pro559=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1188153	NM_001807.6(CEL):c.670-4G>A	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8 +1 more	GLikely benign
Select item 1032004	NM_001807.6(CEL):c.2029G>T (p.Gly677Trp)	CEL (G677W)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 1030479	NM_001807.6(CEL):c.1402G>A (p.Ala468Thr)	CEL (A468T)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 931259	NM_001807.6(CEL):c.341-2A>G	CEL	Single nucleotide variant (splice acceptor variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 917572	NM_001807.6(CEL):c.1974del (p.Val659fs)	CEL (V659fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 917438	NM_001807.6(CEL):c.850C>G (p.Arg284Gly)	CEL (R284G)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GBenign/Likely benign
Select item 828146	NM_001807.6(CEL):c.1776dup (p.Val593fs)	CEL (V593fs)	Duplication (frameshift variant)	Maturity-onset diabetes of the young type 8	GLikely pathogenic
Select item 828119	NM_001807.6(CEL):c.703C>T (p.Arg235Ter)	CEL (R235*)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 8	GLikely pathogenic
Select item 713280	NM_001807.6(CEL):c.402C>G (p.Gly134=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 587584	NM_001807.6(CEL):c.217+34C>T	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 549532	NM_001807.6(CEL):c.358G>A (p.Val120Ile)	CEL (V120I)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GConflicting classifications of pathogenicity
Select item 393421	NM_001807.6(CEL):c.1454T>C (p.Ile485Thr)	CEL (I485T)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8 +3 more	GBenign/Likely benign
Select item 290893	NM_001807.6(CEL):c.2172del (p.Val725fs)	CEL (V725fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 8 +2 more	GConflicting classifications of pathogenicity
Select item 128691	NM_001807.6(CEL):c.2092T>G (p.Ser698Ala)	CEL (S698A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 128684	NM_001807.6(CEL):c.353T>G (p.Leu118Arg)	CEL (L118R)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GBenign
Select item 35815	NM_001807.6(CEL):c.1776del (p.Val593fs)	CEL (V593fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 8	GLikely pathogenic
Select item 17600	NM_001807.6(CEL):c.1677del (p.Val560fs)	CEL (V560fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 8	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 46