AP1S2[gene] and "single gene"[properties] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500867	NM_001272071.2(AP1S2):c.*241A>C	AP1S2	Single nucleotide variant (3 prime UTR variant)	Pettigrew syndrome	GUncertain significance
Select item 588732	NM_001272071.2(AP1S2):c.*1C>T	AP1S2	Single nucleotide variant (3 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2746913	NM_001272071.2(AP1S2):c.482A>G (p.Ter161=)	AP1S2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557855	NM_001272071.2(AP1S2):c.480A>G (p.Thr160=)	AP1S2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094629	NM_001272071.2(AP1S2):c.473G>A (p.Gly158Glu)	AP1S2 (G155E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1039029	NM_001272071.2(AP1S2):c.472G>A (p.Gly158Arg)	AP1S2 (G155R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 512230	NM_001272071.2(AP1S2):c.436-5C>T	AP1S2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1636652	NM_001272071.2(AP1S2):c.436-19_436-18del	AP1S2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 380610	NM_001272071.2(AP1S2):c.427-9C>A	AP1S2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1264730	NM_001272071.2(AP1S2):c.426+226A>G	AP1S2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266375	NM_001272071.2(AP1S2):c.426+206A>G	AP1S2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238955	NM_001272071.2(AP1S2):c.426+193T>C	AP1S2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1578179	NM_001272071.2(AP1S2):c.426+15C>G	AP1S2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 140457	NM_001272071.2(AP1S2):c.426+1G>T	AP1S2	Single nucleotide variant (splice donor variant)	Pettigrew syndrome	GPathogenic
Select item 2869094	NM_001272071.2(AP1S2):c.416T>G (p.Leu139Arg)	AP1S2 (L139R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1417291	NM_001272071.2(AP1S2):c.386A>T (p.Asn129Ile)	AP1S2 (N129I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2446573	NM_001272071.2(AP1S2):c.367C>T (p.Gln123Ter)	AP1S2 (Q123*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 972700	NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs)	AP1S2 (E107fs)	Deletion (frameshift variant +1 more)	Pettigrew syndrome	GLikely pathogenic
Select item 3251646	NM_001272071.2(AP1S2):c.319del (p.Glu107fs)	AP1S2 (E107fs)	Deletion (frameshift variant +1 more)	Pettigrew syndrome	GPathogenic
Select item 1900798	NM_001272071.2(AP1S2):c.309C>T (p.Ile103=)	AP1S2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 449725	NM_001272071.2(AP1S2):c.289-2A>G	AP1S2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 434218	NM_001272071.2(AP1S2):c.289-8C>T	AP1S2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2039329	NM_001272071.2(AP1S2):c.289-10dup	AP1S2	Duplication (intron variant)	not provided	GBenign
Select item 785694	NM_001272071.2(AP1S2):c.289-9C>T	AP1S2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647664	NM_001272071.2(AP1S2):c.289-10del	AP1S2	Deletion (intron variant)	not provided	GBenign
Select item 1276725	NM_001272071.2(AP1S2):c.288+73T>A	AP1S2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 10780	NM_001272071.2(AP1S2):c.288+5G>A	AP1S2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2442357	NM_001272071.2(AP1S2):c.288+1G>A	AP1S2	Single nucleotide variant (splice donor variant)	Pettigrew syndrome	GPathogenic
Select item 157714	NM_001272071.2(AP1S2):c.288T>C (p.Ser96=)	AP1S2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 434219	NM_001272071.2(AP1S2):c.281del (p.Phe94fs)	AP1S2 (F94fs)	Deletion (frameshift variant +1 more)	Pettigrew syndrome	GPathogenic
Select item 1711968	NM_001272071.2(AP1S2):c.259G>A (p.Val87Met)	AP1S2 (V87M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2637840	NM_001272071.2(AP1S2):c.258T>C (p.Tyr86=)	AP1S2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 166687	NM_001272071.2(AP1S2):c.252T>C (p.His84=)	AP1S2	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2633205	NM_001272071.2(AP1S2):c.239_250del (p.Leu80_Ile83del)	AP1S2	Deletion (inframe_deletion +1 more)	AP1S2-related disorder	GUncertain significance
Select item 1947968	NM_001272071.2(AP1S2):c.244A>G (p.Ile82Val)	AP1S2 (I82V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660061	NM_001272071.2(AP1S2):c.240G>A (p.Leu80=)	AP1S2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 10781	NM_001272071.2(AP1S2):c.226G>T (p.Glu76Ter)	AP1S2 (E76*)	Single nucleotide variant (nonsense +1 more)	Pettigrew syndrome	GPathogenic
Select item 2413757	NM_001272071.2(AP1S2):c.222C>T (p.Asp74=)	AP1S2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 10779	NM_001272071.2(AP1S2):c.180-5_180-2del	AP1S2	Deletion (splice acceptor variant)	Pettigrew syndrome	GPathogenic
Select item 2973085	NM_001272071.2(AP1S2):c.180-18A>G	AP1S2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601648	NM_001272071.2(AP1S2):c.179+12G>T	AP1S2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2029295	NM_001272071.2(AP1S2):c.179+11del	AP1S2	Deletion (intron variant)	not provided	GBenign
Select item 2122257	NM_001272071.2(AP1S2):c.179+3A>G	AP1S2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2780458	NM_001272071.2(AP1S2):c.179+1G>A	AP1S2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1012855	NM_001272071.2(AP1S2):c.178dup (p.Arg60fs)	AP1S2 (R60fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2318087	NM_001272071.2(AP1S2):c.160C>G (p.Leu54Val)	AP1S2 (L54V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 10778	NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter)	AP1S2 (R52*)	Single nucleotide variant (nonsense +1 more)	Pettigrew syndrome +1 more	GPathogenic
Select item 2991159	NM_001272071.2(AP1S2):c.150G>A (p.Glu50=)	AP1S2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1916031	NM_001272071.2(AP1S2):c.147T>G (p.Leu49=)	AP1S2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1722221	NM_001272071.2(AP1S2):c.119C>T (p.Ala40Val)	AP1S2 (A40V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2218349	NM_001272071.2(AP1S2):c.112G>A (p.Val38Ile)	AP1S2 (V38I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3239233	NM_001272071.2(AP1S2):c.108G>A (p.Gln36=)	AP1S2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 10777	NM_001272071.2(AP1S2):c.106C>T (p.Gln36Ter)	AP1S2 (Q36*)	Single nucleotide variant (nonsense +1 more)	Pettigrew syndrome	GPathogenic
Select item 280826	NM_001272071.2(AP1S2):c.92del (p.Thr31fs)	AP1S2 (T31fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2787319	NM_001272071.2(AP1S2):c.72C>T (p.Asp24=)	AP1S2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1756051	NM_001272071.2(AP1S2):c.68C>G (p.Ser23Ter)	AP1S2 (S23*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 1895723	NM_001272071.2(AP1S2):c.63A>G (p.Pro21=)	AP1S2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 992877	NM_001272071.2(AP1S2):c.54G>A (p.Trp18Ter)	AP1S2 (W18*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1302899	NM_001272071.2(AP1S2):c.44T>G (p.Leu15Arg)	AP1S2 (L15R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 504198	NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter)	AP1S2 (R14*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2444373	NM_001272071.2(AP1S2):c.21del (p.Phe7fs)	AP1S2 (F7fs)	Deletion (frameshift variant +1 more)	Pettigrew syndrome	GLikely pathogenic
Select item 988587	NM_001272071.2(AP1S2):c.1-2A>G	AP1S2	Single nucleotide variant (splice acceptor variant)	Pettigrew syndrome	GPathogenic
Select item 397541	NM_001272071.2(AP1S2):c.1-3C>A	AP1S2	Single nucleotide variant (intron variant)	Pettigrew syndrome	GPathogenic
Select item 929434	NM_001272071.2(AP1S2):c.-1+1G>A	AP1S2	Single nucleotide variant (splice donor variant)	Pettigrew syndrome	GPathogenic/Likely pathogenic
Select item 2571356	NM_001272071.2(AP1S2):c.-12C>T	AP1S2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3361731	NM_001272071.2(AP1S2):c.426G>A (p.Glu142=)	AP1S2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance

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Items: 66