ClinVar for MedGen (Select 383722) - ClinVar

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

Links from MedGen

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433745	NM_000900.5(MGP):c.62A>T (p.Glu21Val)	MGP (E21V +1 more)	Single nucleotide variant (missense variant)	Keutel syndrome	GUncertain significance
Select item 883398	NM_000900.5(MGP):c.*531T>C	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 883397	NM_000900.5(MGP):c.*720C>A	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 882668	NM_000900.5(MGP):c.77T>C (p.Met26Thr)	MGP (M26T +1 more)	Single nucleotide variant (missense variant)	Keutel syndrome +1 more	GUncertain significance
Select item 881048	NM_000900.5(MGP):c.*176C>G	MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 881047	NM_000900.5(MGP):c.*206A>G	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome +1 more	GBenign/Likely benign
Select item 728682	NM_000900.5(MGP):c.198C>T (p.His66=)	MGP	Single nucleotide variant (synonymous variant)	Keutel syndrome +1 more	GConflicting classifications of pathogenicity
Select item 307778	NM_000900.4(MGP):c.-117C>T	MGP	Single nucleotide variant	Keutel syndrome	GUncertain significance
Select item 307777	NM_000900.4(MGP):c.-66C>A	MGP	Single nucleotide variant	Keutel syndrome	GUncertain significance
Select item 307776	NM_000900.5(MGP):c.-63G>A	MGP	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 307775	NM_000900.5(MGP):c.46G>A (p.Val16Ile)	MGP (V16I)	Single nucleotide variant (missense variant)	Keutel syndrome	GUncertain significance
Select item 307774	NM_000900.5(MGP):c.62-9del	MGP	Deletion (intron variant)	Keutel syndrome +1 more	GBenign/Likely benign
Select item 307773	NM_000900.5(MGP):c.62-18dup	MGP	Duplication (intron variant)	not provided +1 more	GBenign
Select item 307772	NM_000900.5(MGP):c.84T>C (p.Ser28=)	MGP	Single nucleotide variant (synonymous variant)	Keutel syndrome +1 more	GConflicting classifications of pathogenicity
Select item 307771	NM_000900.5(MGP):c.207T>C (p.Asn69=)	MGP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 307770	NM_000900.5(MGP):c.234T>C (p.Leu78=)	MGP	Single nucleotide variant (synonymous variant)	Keutel syndrome +1 more	GConflicting classifications of pathogenicity
Select item 307769	NM_000900.5(MGP):c.237C>T (p.Cys79=)	MGP	Single nucleotide variant (synonymous variant)	Keutel syndrome	GUncertain significance
Select item 307768	NM_000900.5(MGP):c.*27T>G	MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 307767	NM_000900.5(MGP):c.*140T>C	MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GLikely benign
Select item 307766	NM_000900.5(MGP):c.*251T>C	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307765	NM_000900.5(MGP):c.*315dup	LOC126861465, MGP	Duplication (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307764	NM_000900.5(MGP):c.*339T>C	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 307763	NM_000900.5(MGP):c.*343G>A	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome +1 more	GBenign
Select item 307762	NM_000900.5(MGP):c.*455del	LOC126861465, MGP	Deletion (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307761	NM_000900.5(MGP):c.*476T>C	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307760	NM_000900.5(MGP):c.*538C>G	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GLikely benign
Select item 307759	NM_000900.5(MGP):c.*552A>T	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 307758	NM_000900.5(MGP):c.*604A>G	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 307757	NM_000900.5(MGP):c.*615A>G	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 307756	NM_000900.5(MGP):c.*755G>T	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 286292	NM_000900.5(MGP):c.157A>G (p.Lys53Glu)	MGP (K53E +1 more)	Single nucleotide variant (missense variant)	Keutel syndrome +2 more	GBenign/Likely benign
Select item 284369	NM_000900.5(MGP):c.304A>G (p.Thr102Ala)	MGP (T127A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 281674	NM_000900.5(MGP):c.115A>C (p.Asn39His)	MGP (N39H +1 more)	Single nucleotide variant (missense variant)	Keutel syndrome +2 more	GBenign/Likely benign
Select item 193127	NM_000900.5(MGP):c.23C>T (p.Ala8Val)	MGP (A8V)	Single nucleotide variant (missense variant)	Keutel syndrome +2 more	GBenign
Select item 14344	NM_000900.5(MGP):c.94+1G>A	MGP	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 14343	NM_000900.5(MGP):c.87T>A (p.Tyr29Ter)	MGP (Y29* +1 more)	Single nucleotide variant (nonsense)	Keutel syndrome	GPathogenic
Select item 14342	NM_000900.5(MGP):c.62-2A>G	MGP	Single nucleotide variant (splice acceptor variant)	Keutel syndrome	GPathogenic
Select item 14341	NM_000900.5(MGP):c.43del (p.Ala14_Val15insTer)	MGP	Deletion (nonsense)	Keutel syndrome	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: 38