Related gene-specific medical variations for Gene (Select 1174) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245870	NC_000007.13:g.(?_100797796)_(100797818_?)del	AP1S1	Deletion	not provided	GPathogenic
Select item 3127477	NM_001283.5(AP1S1):c.213C>G (p.Ile71Met)	AP1S1, LOC126860125 (I71M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3021767	NM_001283.5(AP1S1):c.183-10C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001943	NM_001283.5(AP1S1):c.135G>A (p.Lys45=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991745	NM_001283.5(AP1S1):c.126A>G (p.Arg42=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988367	NM_001283.5(AP1S1):c.4-5C>A	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985850	NM_001283.5(AP1S1):c.96G>A (p.Val32=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979276	NM_001283.5(AP1S1):c.261C>G (p.Tyr87Ter)	AP1S1, LOC126860125 (Y87*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2969619	NM_001283.5(AP1S1):c.60C>G (p.Tyr20Ter)	AP1S1, LOC126860125 (Y20*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2964815	NM_001283.5(AP1S1):c.183-14G>C	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920204	NM_001283.5(AP1S1):c.3+15G>T	AP1S1, LOC113687177	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917056	NM_001283.5(AP1S1):c.183-11C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912702	NM_001283.5(AP1S1):c.3+8G>T	AP1S1, LOC113687177	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907858	NM_001283.5(AP1S1):c.261C>T (p.Tyr87=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907379	NM_001283.5(AP1S1):c.147C>T (p.Phe49=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2907033	NM_001283.5(AP1S1):c.291+9C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898440	NM_001283.5(AP1S1):c.117C>T (p.Val39=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894372	NM_001283.5(AP1S1):c.183-11C>G	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893405	NM_001283.5(AP1S1):c.183-1G>C	AP1S1, LOC126860125	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2891179	NM_001283.5(AP1S1):c.132C>T (p.Pro44=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890263	NM_001283.5(AP1S1):c.186T>C (p.Tyr62=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879888	NM_001283.5(AP1S1):c.291+10C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874552	NM_001283.5(AP1S1):c.3+7T>A	AP1S1, LOC113687177	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868216	NM_001283.5(AP1S1):c.3+8G>A	AP1S1, LOC113687177	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862148	NM_001283.5(AP1S1):c.183-18A>G	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846351	NM_001283.5(AP1S1):c.3+11C>A	AP1S1, LOC113687177	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839965	NM_001283.5(AP1S1):c.182+14T>C	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838199	NM_001283.5(AP1S1):c.148C>T (p.Leu50=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832458	NM_001283.5(AP1S1):c.117C>A (p.Val39=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829459	NM_001283.5(AP1S1):c.231G>A (p.Glu77=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828096	NM_001283.5(AP1S1):c.4-4A>G	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821699	NM_001283.5(AP1S1):c.72G>C (p.Ser24=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802920	NM_001283.5(AP1S1):c.43C>A (p.Arg15=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798206	NM_001283.5(AP1S1):c.3+25_3+40dup	AP1S1, LOC113687177	Duplication (intron variant)	not provided	GLikely benign
Select item 2791638	NM_001283.5(AP1S1):c.291+9C>A	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786692	NM_001283.5(AP1S1):c.237C>T (p.Ile79=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771940	NM_001283.5(AP1S1):c.182+10C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771723	NM_001283.5(AP1S1):c.279A>G (p.Lys93=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759247	NM_001283.5(AP1S1):c.291+20C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758567	NM_001283.5(AP1S1):c.240A>T (p.Thr80=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751608	NM_001283.5(AP1S1):c.182+7C>G	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745749	NM_001283.5(AP1S1):c.291+17C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733747	NM_001283.5(AP1S1):c.234C>T (p.Leu78=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2733406	NM_001283.5(AP1S1):c.291+12C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733405	NM_001283.5(AP1S1):c.270C>G (p.Leu90=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2730505	NM_001283.5(AP1S1):c.72G>A (p.Ser24=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725444	NM_001283.5(AP1S1):c.40C>T (p.Leu14=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725013	NM_001283.5(AP1S1):c.3+12G>A	AP1S1, LOC113687177	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722457	NM_001283.5(AP1S1):c.183-4G>A	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2720606	NM_001283.5(AP1S1):c.255C>T (p.His85=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720494	NM_001283.5(AP1S1):c.69T>G (p.Thr23=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716070	NM_001283.5(AP1S1):c.183-14G>A	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708163	NM_001283.5(AP1S1):c.183-7T>G	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693234	NM_001283.5(AP1S1):c.87G>A (p.Lys29=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2510885	NM_001283.5(AP1S1):c.7C>T (p.Arg3Trp)	AP1S1, LOC126860125 (R3W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195481	NM_001283.5(AP1S1):c.18A>G (p.Leu6=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2194541	NM_001283.5(AP1S1):c.183-15C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2193703	NM_001283.5(AP1S1):c.291+19C>A	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2147418	NM_001283.5(AP1S1):c.183-17T>C	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2070833	NM_001283.5(AP1S1):c.183-5C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	AP1S1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1659503	NM_001283.5(AP1S1):c.182+8C>G	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600626	NM_001283.5(AP1S1):c.4-11A>G	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1583700	NM_001283.5(AP1S1):c.153G>A (p.Glu51=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1563630	NM_001283.5(AP1S1):c.182+13C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291905	NM_001283.5(AP1S1):c.429+309A>G	AP1S1, MIR4653	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1273930	NM_001283.5(AP1S1):c.183-23G>A	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267114	NM_001283.5(AP1S1):c.182+252C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192403	NM_001283.5(AP1S1):c.182+78T>C	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1024569	NM_001283.5(AP1S1):c.124C>A (p.Arg42=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 953816	NM_001283.5(AP1S1):c.2T>C (p.Met1Thr)	AP1S1, LOC113687177 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 851525	NM_001283.5(AP1S1):c.291+2T>A	AP1S1, LOC126860125	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 804403	NM_001283.5(AP1S1):c.220C>T (p.Gln74Ter)	AP1S1, LOC126860125 (Q74*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 785736	NM_001283.5(AP1S1):c.99C>T (p.Arg33=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784721	NM_001283.5(AP1S1):c.201C>T (p.Phe67=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 779699	NM_001283.5(AP1S1):c.117C>G (p.Val39=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	MEDNIK syndrome +1 more	GBenign/Likely benign
Select item 729962	NM_001283.5(AP1S1):c.207C>T (p.Cys69=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725419	NM_001283.5(AP1S1):c.16C>T (p.Leu6=)	AP1S1, LOC126860125	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 620377	NM_001283.5(AP1S1):c.186T>G (p.Tyr62Ter)	AP1S1, LOC126860125 (Y62*)	Single nucleotide variant (nonsense)	MEDNIK syndrome +1 more	GPathogenic/Likely pathogenic
Select item 39854	NM_001283.5(AP1S1):c.183-2A>G	AP1S1, LOC126860125	Single nucleotide variant (splice acceptor variant)	MEDNIK syndrome +1 more	GPathogenic

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Links from Gene

Items: 79