ClinVar for MedGen (Select 1375936) - ClinVar

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

Links from MedGen

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064972	NM_002816.5(PSMD12):c.1157T>C (p.Val386Ala)	PSMD12 (V327A +2 more)	Single nucleotide variant (missense variant)	Stankiewicz-Isidor syndrome	GUncertain significance
Select item 2691850	NM_002816.5(PSMD12):c.333T>A (p.Tyr111Ter)	PSMD12 (Y111* +2 more)	Single nucleotide variant (nonsense)	Stankiewicz-Isidor syndrome	GLikely pathogenic
Select item 2689836	NM_002816.5(PSMD12):c.1342A>G (p.Lys448Glu)	PSMD12 (K389E +2 more)	Single nucleotide variant (missense variant)	Stankiewicz-Isidor syndrome	GUncertain significance
Select item 2689835	NM_002816.5(PSMD12):c.1164_1166delinsTTT (p.Glu388_Ser389delinsAspPhe)	PSMD12	Indel (missense variant)	Stankiewicz-Isidor syndrome	GUncertain significance
Select item 2683747	NM_002816.5(PSMD12):c.299C>T (p.Ala100Val)	PSMD12 (A100V +2 more)	Single nucleotide variant (missense variant)	Stankiewicz-Isidor syndrome	GUncertain significance
Select item 2585421	NM_002816.5(PSMD12):c.635A>G (p.Lys212Arg)	PSMD12 (K153R +2 more)	Single nucleotide variant (missense variant)	Stankiewicz-Isidor syndrome	GUncertain significance
Select item 2435275	NM_002816.5(PSMD12):c.881A>G (p.Lys294Arg)	PSMD12 (K235R +2 more)	Single nucleotide variant (missense variant)	Stankiewicz-Isidor syndrome	GUncertain significance
Select item 1992320	NM_002816.5(PSMD12):c.1084-1G>A	PSMD12	Single nucleotide variant (splice acceptor variant)	Stankiewicz-Isidor syndrome	GLikely pathogenic
Select item 1679244	NM_002816.5(PSMD12):c.1078G>T (p.Glu360Ter)	PSMD12 (E301* +2 more)	Single nucleotide variant (nonsense)	Stankiewicz-Isidor syndrome	GPathogenic
Select item 1327455	NM_002816.5(PSMD12):c.796-3T>C	PSMD12	Single nucleotide variant (intron variant)	Stankiewicz-Isidor syndrome	GBenign
Select item 1274151	NM_002816.5(PSMD12):c.84A>T (p.Leu28=)	LOC130061479, PSMD12	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1213698	NM_002816.5(PSMD12):c.1272A>T (p.Leu424Phe)	PSMD12 (L365F +2 more)	Single nucleotide variant (missense variant)	Stankiewicz-Isidor syndrome	GUncertain significance
Select item 1032849	NM_002816.5(PSMD12):c.79C>A (p.Arg27Ser)	PSMD12, LOC130061479 (R27S)	Single nucleotide variant (5 prime UTR variant +1 more)	Stankiewicz-Isidor syndrome	GUncertain significance
Select item 1029483	NM_002816.5(PSMD12):c.355C>T (p.Pro119Ser)	PSMD12 (P119S +2 more)	Single nucleotide variant (missense variant)	Stankiewicz-Isidor syndrome	GUncertain significance
Select item 972984	NM_002816.5(PSMD12):c.112G>A (p.Gly38Arg)	PSMD12 (G38R)	Single nucleotide variant (5 prime UTR variant +2 more)	Stankiewicz-Isidor syndrome	Gnot provided
Select item 807474	NM_002816.5(PSMD12):c.148_149del (p.Leu50fs)	PSMD12 (L50fs)	Microsatellite (5 prime UTR variant +2 more)	Stankiewicz-Isidor syndrome	GPathogenic
Select item 803461	NM_002816.5(PSMD12):c.1096A>G (p.Met366Val)	PSMD12 (M346V +2 more)	Single nucleotide variant (missense variant)	Stankiewicz-Isidor syndrome	GUncertain significance
Select item 638584	NM_002816.5(PSMD12):c.1033G>T (p.Glu345Ter)	PSMD12 (E345* +2 more)	Single nucleotide variant (nonsense)	Stankiewicz-Isidor syndrome	GPathogenic
Select item 427782	NM_002816.5(PSMD12):c.909-2A>G	PSMD12	Single nucleotide variant (splice acceptor variant)	Stankiewicz-Isidor syndrome	GPathogenic
Select item 427781	NM_002816.5(PSMD12):c.601C>T (p.Arg201Ter)	PSMD12 (R201* +2 more)	Single nucleotide variant (nonsense)	Stankiewicz-Isidor syndrome	GPathogenic
Select item 427780	NM_002816.5(PSMD12):c.1274T>G (p.Leu425Ter)	PSMD12 (L425* +2 more)	Single nucleotide variant (nonsense)	Stankiewicz-Isidor syndrome	GPathogenic
Select item 427779	NM_002816.5(PSMD12):c.367C>T (p.Arg123Ter)	PSMD12 (R123* +2 more)	Single nucleotide variant (nonsense)	not provided	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: 22