AGPS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 683748	NM_003659.3(AGPS):c.-304G>A	AGPS, LOC100130691	Single nucleotide variant	not provided	GBenign
Select item 1257129	NC_000002.12:g.177392624G>C	AGPS, LOC100130691	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1213247	NC_000002.12:g.177392631G>A	AGPS, LOC100130691	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 675020	NM_003659.3(AGPS):c.-127G>A	AGPS, LOC100130691	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 332508	NM_003659.4(AGPS):c.-14A>G	AGPS, LOC129935172	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 497720	NM_003659.4(AGPS):c.-5_-3del	AGPS, LOC129935172	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 1448209	NM_003659.4(AGPS):c.5C>A (p.Ala2Glu)	AGPS, LOC129935172 (A2E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1581501	NM_003659.4(AGPS):c.6G>A (p.Ala2=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555994	NM_003659.4(AGPS):c.6G>T (p.Ala2=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 499905	NM_003659.4(AGPS):c.7G>A (p.Glu3Lys)	AGPS, LOC129935172 (E3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2027867	NM_003659.4(AGPS):c.9G>A (p.Glu3=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2393696	NM_003659.4(AGPS):c.10G>T (p.Ala4Ser)	AGPS, LOC129935172 (A4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 893624	NM_003659.4(AGPS):c.14C>T (p.Ala5Val)	AGPS, LOC129935172 (A5V)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 1641968	NM_003659.4(AGPS):c.15G>C (p.Ala5=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 383646	NM_003659.4(AGPS):c.20C>T (p.Ala7Val)	AGPS, LOC129935172 (A7V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2067706	NM_003659.4(AGPS):c.26G>C (p.Gly9Ala)	AGPS, LOC129935172 (G9A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1081990	NM_003659.4(AGPS):c.27T>A (p.Gly9=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2151725	NM_003659.4(AGPS):c.30G>C (p.Gly10=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003812	NM_003659.4(AGPS):c.33T>A (p.Thr11=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356154	NM_003659.4(AGPS):c.34G>C (p.Gly12Arg)	AGPS, LOC129935172 (G12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 332509	NM_003659.4(AGPS):c.35G>A (p.Gly12Asp)	AGPS, LOC129935172 (G12D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2003641	NM_003659.4(AGPS):c.36C>T (p.Gly12=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1561812	NM_003659.4(AGPS):c.37T>C (p.Leu13=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991239	NM_003659.4(AGPS):c.40G>T (p.Gly14Cys)	AGPS, LOC129935172 (G14C)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata	GUncertain significance
Select item 2013263	NM_003659.4(AGPS):c.45G>A (p.Ala15=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1099150	NM_003659.4(AGPS):c.45G>C (p.Ala15=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1505604	NM_003659.4(AGPS):c.49_54dup (p.Ala17_Ser18dup)	LOC129935172, AGPS	Duplication (inframe_insertion)	not specified +1 more	GUncertain significance
Select item 2753563	NM_003659.4(AGPS):c.48C>T (p.Gly16=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695891	NM_003659.4(AGPS):c.48C>A (p.Gly16=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1100396	NM_003659.4(AGPS):c.51G>T (p.Ala17=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747439	NM_003659.4(AGPS):c.54C>T (p.Ser18=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991240	NM_003659.4(AGPS):c.57C>T (p.Tyr19=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127604	NM_003659.4(AGPS):c.60G>A (p.Gly20=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541587	NM_003659.4(AGPS):c.60G>T (p.Gly20=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085198	NM_003659.4(AGPS):c.64_65delinsAG (p.Ala22Arg)	AGPS, LOC129935172 (A22R)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 893911	NM_003659.4(AGPS):c.64G>A (p.Ala22Thr)	AGPS, LOC129935172 (A22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 332510	NM_003659.4(AGPS):c.65C>G (p.Ala22Gly)	AGPS, LOC129935172 (A22G)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2827114	NM_003659.4(AGPS):c.69G>C (p.Ala23=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984595	NM_003659.4(AGPS):c.69G>A (p.Ala23=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343572	NM_003659.4(AGPS):c.71A>T (p.Asp24Val)	AGPS, LOC129935172 (D24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1101521	NM_003659.4(AGPS):c.72C>T (p.Asp24=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792470	NM_003659.4(AGPS):c.75G>A (p.Arg25=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343573	NM_003659.4(AGPS):c.77A>T (p.Asp26Val)	AGPS, LOC129935172 (D26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1553231	NM_003659.4(AGPS):c.78C>T (p.Asp26=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303808	NM_003659.4(AGPS):c.80G>C (p.Arg27Pro)	AGPS, LOC129935172 (R27P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 332511	NM_003659.4(AGPS):c.86CGGACC[3] (p.29PD[3])	AGPS, LOC129935172	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 2813337	NM_003659.4(AGPS):c.81G>C (p.Arg27=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603550	NM_003659.4(AGPS):c.81G>A (p.Arg27=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 332512	NM_003659.4(AGPS):c.83A>T (p.Asp28Val)	AGPS, LOC129935172 (D28V)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GUncertain significance
Select item 2903714	NM_003659.4(AGPS):c.84C>T (p.Asp28=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343574	NM_003659.4(AGPS):c.89A>T (p.Asp30Val)	AGPS, LOC129935172 (D30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1969516	NM_003659.4(AGPS):c.90C>T (p.Asp30=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845086	NM_003659.4(AGPS):c.93G>T (p.Pro31=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078247	NM_003659.4(AGPS):c.97_98insCGGGCC (p.Asp32_Arg33insProGly)	AGPS, LOC129935172	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1098104	NM_003659.4(AGPS):c.96C>T (p.Asp32=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782921	NM_003659.4(AGPS):c.105G>A (p.Gly35=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 332513	NM_003659.4(AGPS):c.108G>A (p.Arg36=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 1517676	NM_003659.4(AGPS):c.115C>T (p.Arg39Trp)	AGPS, LOC129935172 (R39W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549122	NM_003659.4(AGPS):c.117G>T (p.Arg39=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606087	NM_003659.4(AGPS):c.120T>C (p.Val40=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779808	NM_003659.4(AGPS):c.123C>G (p.Leu41=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102416	NM_003659.4(AGPS):c.133C>T (p.Leu45=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992456	NM_003659.4(AGPS):c.136C>T (p.Leu46=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1144853	NM_003659.4(AGPS):c.141C>A (p.Gly47=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3096555	NM_003659.4(AGPS):c.146C>T (p.Pro49Leu)	AGPS, LOC129935172 (P49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1588278	NM_003659.4(AGPS):c.147C>A (p.Pro49=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 157711	NM_003659.4(AGPS):c.147C>T (p.Pro49=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 790910	NM_003659.4(AGPS):c.148C>T (p.Arg50Trp)	AGPS, LOC129935172 (R50W)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2046339	NM_003659.4(AGPS):c.149G>A (p.Arg50Gln)	AGPS, LOC129935172 (R50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1105755	NM_003659.4(AGPS):c.153G>A (p.Glu51=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760154	NM_003659.4(AGPS):c.157C>T (p.Leu53=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GBenign/Likely benign
Select item 1136439	NM_003659.4(AGPS):c.159G>C (p.Leu53=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1996887	NM_003659.4(AGPS):c.160A>T (p.Ser54Cys)	AGPS, LOC129935172 (S54C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1401439	NM_003659.4(AGPS):c.166A>G (p.Asn56Asp)	AGPS, LOC129935172 (N56D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1658042	NM_003659.4(AGPS):c.180G>A (p.Ala60=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637246	NM_003659.4(AGPS):c.183G>T (p.Arg61=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102193	NM_003659.4(AGPS):c.183G>A (p.Arg61=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713194	NM_003659.4(AGPS):c.186A>G (p.Arg62=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1150949	NM_003659.4(AGPS):c.189C>T (p.Ala63=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892969	NM_003659.4(AGPS):c.192G>A (p.Ala64=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124589	NM_003659.4(AGPS):c.192G>C (p.Ala64=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538945	NM_003659.4(AGPS):c.194C>T (p.Ser65Leu)	AGPS, LOC129935172 (S65L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 991241	NM_003659.4(AGPS):c.197C>T (p.Ala66Val)	AGPS, LOC129935172 (A66V)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata	GUncertain significance
Select item 991242	NM_003659.4(AGPS):c.200C>T (p.Ala67Val)	AGPS, LOC129935172 (A67V)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata	GUncertain significance
Select item 2835781	NM_003659.4(AGPS):c.201C>T (p.Ala67=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1106321	NM_003659.4(AGPS):c.204G>C (p.Thr68=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 157712	NM_003659.4(AGPS):c.207A>G (p.Ala69=)	AGPS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2003982	NM_003659.4(AGPS):c.208G>A (p.Ala70Thr)	AGPS (A70T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769059	NM_003659.4(AGPS):c.213C>T (p.Pro71=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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