PSMD12[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152211	GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)x1	APOH, AXIN2 +109 more	Copy number loss	See cases	GPathogenic
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 1879380	NM_002816.5(PSMD12):c.1341C>A (p.Ala447=)	PSMD12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3255045	NM_002816.5(PSMD12):c.1328C>T (p.Thr443Met)	PSMD12 (T384M +2 more)	Single nucleotide variant (missense variant)	Stankiewicz-Isidor syndrome	GUncertain significance
Select item 2575001	NM_002816.5(PSMD12):c.1315G>T (p.Val439Phe)	PSMD12 (V380F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706414	NM_002816.5(PSMD12):c.1308G>A (p.Met436Ile)	PSMD12 (M377I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504493	NM_002816.5(PSMD12):c.1306A>T (p.Met436Leu)	PSMD12 (M377L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3310985	NM_002816.5(PSMD12):c.1288C>G (p.Gln430Glu)	PSMD12 (Q371E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3358841	NM_002816.5(PSMD12):c.1248del (p.Arg417fs)	PSMD12 (R358fs +2 more)	Deletion (frameshift variant)	PSMD12-related disorder	GUncertain significance
Select item 2631282	NM_002816.5(PSMD12):c.1204A>G (p.Ile402Val)	PSMD12 (I343V +2 more)	Single nucleotide variant (missense variant)	PSMD12-related disorder	GUncertain significance
Select item 3031355	NM_002816.5(PSMD12):c.1189G>C (p.Val397Leu)	PSMD12 (V338L +2 more)	Single nucleotide variant (missense variant)	PSMD12-related disorder	GUncertain significance
Select item 2576837	NM_002816.5(PSMD12):c.1177C>T (p.Leu393Phe)	PSMD12 (L334F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571721	NM_002816.5(PSMD12):c.1172C>G (p.Ala391Gly)	PSMD12 (A332G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499183	NM_002816.5(PSMD12):c.1172C>T (p.Ala391Val)	PSMD12 (A332V +2 more)	Single nucleotide variant (missense variant)	not provided	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 916097	NM_002816.5(PSMD12):c.1162-1G>A	PSMD12	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2222991	NM_002816.5(PSMD12):c.1161+4A>G	PSMD12	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
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 1337799	NM_002816.5(PSMD12):c.1152A>G (p.Leu384=)	PSMD12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2631018	NM_002816.5(PSMD12):c.1141C>T (p.Leu381Phe)	PSMD12 (L322F +2 more)	Single nucleotide variant (missense variant)	PSMD12-related disorder	GUncertain significance
Select item 2629059	NM_002816.5(PSMD12):c.1124T>C (p.Met375Thr)	PSMD12 (M316T +2 more)	Single nucleotide variant (missense variant)	PSMD12-related disorder	GUncertain significance
Select item 2629832	NM_002816.5(PSMD12):c.1114C>T (p.Arg372Trp)	PSMD12 (R313W +2 more)	Single nucleotide variant (missense variant)	PSMD12-related disorder	GUncertain significance
Select item 1200019	NM_002816.5(PSMD12):c.1111A>G (p.Thr371Ala)	PSMD12 (T312A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696219	NM_002816.5(PSMD12):c.1104G>T (p.Lys368Asn)	PSMD12 (K309N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3220429	NM_002816.5(PSMD12):c.1075G>C (p.Val359Leu)	PSMD12 (V300L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648116	NM_002816.5(PSMD12):c.1073T>C (p.Val358Ala)	PSMD12 (V299A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 984994	NM_002816.5(PSMD12):c.1071_1072del (p.Arg357fs)	PSMD12 (R298fs +2 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
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 1712865	NM_002816.5(PSMD12):c.1019T>C (p.Val340Ala)	PSMD12 (V281A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2224944	NM_002816.5(PSMD12):c.1017T>A (p.Asp339Glu)	PSMD12 (D280E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365622	NM_002816.5(PSMD12):c.1003A>C (p.Ser335Arg)	PSMD12 (S276R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2317689	NM_002816.5(PSMD12):c.992G>C (p.Gly331Ala)	PSMD12 (G311A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037338	NM_002816.5(PSMD12):c.967G>A (p.Asp323Asn)	PSMD12 (D264N +2 more)	Single nucleotide variant (missense variant)	PSMD12-related disorder	GUncertain significance
Select item 2501400	NM_002816.5(PSMD12):c.941T>C (p.Leu314Ser)	PSMD12 (L255S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648117	NM_002816.5(PSMD12):c.940T>C (p.Leu314=)	PSMD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 427782	NM_002816.5(PSMD12):c.909-2A>G	PSMD12	Single nucleotide variant (splice acceptor variant)	Stankiewicz-Isidor syndrome	GPathogenic
Select item 2577965	NM_002816.5(PSMD12):c.906C>A (p.Tyr302Ter)	PSMD12 (Y243* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2648118	NM_002816.5(PSMD12):c.898C>T (p.Pro300Ser)	PSMD12 (P241S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690469	NM_002816.5(PSMD12):c.898C>G (p.Pro300Ala)	PSMD12 (P241A +2 more)	Single nucleotide variant (missense variant)	See cases	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 1304060	NM_002816.5(PSMD12):c.853G>C (p.Asp285His)	PSMD12 (D226H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368714	NM_002816.5(PSMD12):c.803A>C (p.Lys268Thr)	PSMD12 (K209T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327455	NM_002816.5(PSMD12):c.796-3T>C	PSMD12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 978969	NM_002816.5(PSMD12):c.795+1G>A	PSMD12	Single nucleotide variant (splice donor variant)	Intellectual disability	GLikely pathogenic
Select item 1311277	NM_002816.5(PSMD12):c.731G>C (p.Cys244Ser)	PSMD12 (C185S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030774	NM_002816.5(PSMD12):c.710A>G (p.Glu237Gly)	PSMD12 (E178G +2 more)	Single nucleotide variant (missense variant)	PSMD12-related disorder	GUncertain significance
Select item 3250362	NM_002816.5(PSMD12):c.686T>G (p.Leu229Ter)	PSMD12 (L170* +2 more)	Single nucleotide variant (nonsense)	Stankiewicz-Isidor syndrome	GPathogenic
Select item 3062170	NM_002816.5(PSMD12):c.662A>C (p.Lys221Thr)	PSMD12 (K162T +2 more)	Single nucleotide variant (missense variant)	See cases	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 427781	NM_002816.5(PSMD12):c.601C>T (p.Arg201Ter)	PSMD12 (R201* +2 more)	Single nucleotide variant (nonsense)	Stankiewicz-Isidor syndrome	GPathogenic
Select item 620300	NM_002816.5(PSMD12):c.544C>T (p.Arg182Ter)	PSMD12 (R182* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3337337	NM_002816.5(PSMD12):c.539_542del (p.Lys180fs)	PSMD12 (K121fs +2 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3033557	NM_002816.5(PSMD12):c.528A>G (p.Ser176=)	PSMD12	Single nucleotide variant (synonymous variant)	PSMD12-related disorder	GBenign
Select item 818024	NM_002816.5(PSMD12):c.526del (p.Ser176fs)	PSMD12 (S156fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1803477	NM_002816.5(PSMD12):c.469G>C (p.Gly157Arg)	PSMD12 (G137R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635486	NM_002816.5(PSMD12):c.435_438del (p.Thr146fs)	PSMD12 (T126fs +2 more)	Microsatellite (frameshift variant)	PSMD12-related disorder	GLikely pathogenic
Select item 2855987	NM_002816.5(PSMD12):c.431G>A (p.Arg144Gln)	PSMD12 (R144Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987109	NM_002816.5(PSMD12):c.430C>T (p.Arg144Ter)	PSMD12 (R124* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2648119	NM_002816.5(PSMD12):c.429G>A (p.Ala143=)	PSMD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026505	NM_002816.5(PSMD12):c.417A>T (p.Glu139Asp)	PSMD12 (E119D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3310984	NM_002816.5(PSMD12):c.415G>T (p.Glu139Ter)	PSMD12 (E119* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3252522	NM_002816.5(PSMD12):c.406A>G (p.Ile136Val)	PSMD12 (I116V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427779	NM_002816.5(PSMD12):c.367C>T (p.Arg123Ter)	PSMD12 (R123* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 817952	NM_002816.5(PSMD12):c.356del (p.Pro119fs)	PSMD12 (P99fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 2648120	NM_002816.5(PSMD12):c.333T>C (p.Tyr111=)	PSMD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 620497	NM_002816.5(PSMD12):c.316C>T (p.Gln106Ter)	PSMD12 (Q106* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2374287	NM_002816.5(PSMD12):c.265C>T (p.Leu89Phe)	PSMD12 (L69F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2500629	NM_002816.5(PSMD12):c.259A>G (p.Ile87Val)	PSMD12 (I28V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872324	NM_002816.5(PSMD12):c.212T>C (p.Val71Ala)	PSMD12 (V12A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983403	NM_002816.5(PSMD12):c.211G>T (p.Val71Leu)	PSMD12 (V12L +2 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 2402679	NM_002816.5(PSMD12):c.193C>T (p.Arg65Cys)	PSMD12 (R45C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504884	NM_002816.5(PSMD12):c.176A>G (p.Asp59Gly)	PSMD12 (D39G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1701864	NM_002816.5(PSMD12):c.168+5G>A	PSMD12	Single nucleotide variant (intron variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2501137	NM_002816.5(PSMD12):c.166A>G (p.Thr56Ala)	PSMD12 (T56A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2662265	NM_002816.5(PSMD12):c.163C>T (p.Arg55Cys)	PSMD12 (R55C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
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 972984	NM_002816.5(PSMD12):c.112G>A (p.Gly38Arg)	PSMD12 (G38R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
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 3220431	NM_002816.5(PSMD12):c.80G>A (p.Arg27His)	LOC130061479, PSMD12 (R27H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	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 2576039	NM_002816.5(PSMD12):c.76C>T (p.Gln26Ter)	LOC130061479, PSMD12 (Q26*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2980858	NM_002816.5(PSMD12):c.25G>A (p.Ala9Thr)	LOC130061480, PSMD12 (A9T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3220430	NM_002816.5(PSMD12):c.17C>T (p.Ser6Leu)	LOC130061480, PSMD12 (S6L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 815947	GRCh37/hg19 17q24.2(chr17:65289140-65422972)x1	PSMD12, PITPNC1	Copy number loss	not provided	GLikely pathogenic
Select item 815946	GRCh37/hg19 17q24.2(chr17:65050304-65440440)x3	PSMD12, HELZ +2 more	Copy number gain	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 688525	GRCh37/hg19 17q24.2(chr17:65333593-65475925)x3	PITPNC1, PSMD12	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic

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