ClinVar for Gene (Select 1174) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	MCM7, SPACDR +106 more	Deletion	not provided	GPathogenic
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 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062968	GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1	ACHE, AP1S1 +20 more	Copy number loss	not specified	GPathogenic
Select item 3021767	NM_001283.5(AP1S1):c.183-10C>T	AP1S1, LOC126860125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016450	NM_001283.5(AP1S1):c.396G>A (p.Leu132=)	AP1S1	Single nucleotide variant (synonymous 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 2994746	NM_001283.5(AP1S1):c.292-6T>C	AP1S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993635	NM_001283.5(AP1S1):c.292-4C>A	AP1S1	Single nucleotide variant (intron 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 2987859	NM_001283.5(AP1S1):c.456G>A (p.Leu152=)	AP1S1	Single nucleotide variant (synonymous 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 2979261	NM_001283.5(AP1S1):c.318C>T (p.Asn106=)	AP1S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2963531	NM_001283.5(AP1S1):c.430-12T>C	AP1S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920588	NM_001283.5(AP1S1):c.430-19_430-18del	AP1S1	Microsatellite (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 2918387	NM_001283.5(AP1S1):c.430-13_430-10del	AP1S1	Microsatellite (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 2906894	NM_001283.5(AP1S1):c.429+19GAG[3]	AP1S1	Microsatellite (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 2874574	NM_001283.5(AP1S1):c.292-10G>C	AP1S1	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 2870138	NM_001283.5(AP1S1):c.429+8C>G	AP1S1	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 2850384	NM_001283.5(AP1S1):c.292-10G>A	AP1S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848752	NM_001283.5(AP1S1):c.384G>A (p.Lys128=)	AP1S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847038	NM_001283.5(AP1S1):c.292-14C>T	AP1S1	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 2846240	NM_001283.5(AP1S1):c.321T>C (p.Phe107=)	AP1S1	Single nucleotide variant (synonymous 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 2829022	NM_001283.5(AP1S1):c.447G>T (p.Arg149=)	AP1S1	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 2807197	NM_001283.5(AP1S1):c.368T>A (p.Val123Asp)	AP1S1 (V123D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806977	NM_001283.5(AP1S1):c.339C>T (p.Ile113=)	AP1S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806665	NM_001283.5(AP1S1):c.429+12G>A	AP1S1	Single nucleotide variant (intron 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 2786018	NM_001283.5(AP1S1):c.309C>T (p.Ile103=)	AP1S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778615	NM_001283.5(AP1S1):c.402C>T (p.Ala134=)	AP1S1	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 2766571	NM_001283.5(AP1S1):c.414T>C (p.Ala138=)	AP1S1	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 2740586	NM_001283.5(AP1S1):c.394C>T (p.Leu132=)	AP1S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739562	NM_001283.5(AP1S1):c.462G>A (p.Glu154=)	AP1S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738029	NM_001283.5(AP1S1):c.292-11C>T	AP1S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735533	NM_001283.5(AP1S1):c.426A>G (p.Gln142=)	AP1S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2733748	NM_001283.5(AP1S1):c.294G>A (p.Val98=)	AP1S1	Single nucleotide variant (synonymous 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 2732805	NM_001283.5(AP1S1):c.430-8T>C	AP1S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730939	NM_001283.5(AP1S1):c.306C>T (p.Asp102=)	AP1S1	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 2727647	NM_001283.5(AP1S1):c.297C>T (p.Cys99=)	AP1S1	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 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2684496	GRCh37/hg19 7q22.1(chr7:100532371-101116321)x3	AP1S1, CLDN15 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2671789	NM_001283.5(AP1S1):c.298G>A (p.Glu100Lys)	AP1S1 (E100K)	Single nucleotide variant (missense variant)	MEDNIK syndrome	GUncertain significance
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 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 2228706	NM_001283.5(AP1S1):c.365A>C (p.Asp122Ala)	AP1S1 (D122A)	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 2195219	NM_001283.5(AP1S1):c.441G>A (p.Ser147=)	AP1S1	Single nucleotide variant (synonymous variant)	not provided	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 2191782	NM_001283.5(AP1S1):c.429+12G>C	AP1S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2171214	NM_001283.5(AP1S1):c.294G>T (p.Val98=)	AP1S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2151512	NM_001283.5(AP1S1):c.405C>T (p.Ile135=)	AP1S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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