336[geneid] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	LOC129931764, LY9 +63 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 2690543	NM_001643.2(APOA2):c.301T>A (p.Ter101Arg)	APOA2	Single nucleotide variant (stop lost)	not provided	GLikely pathogenic
Select item 2285375	NM_001643.2(APOA2):c.296C>T (p.Thr99Ile)	APOA2 (T99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929173	NM_001643.2(APOA2):c.293C>A (p.Ala98Asp)	APOA2 (A98D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496142	NM_001643.2(APOA2):c.288G>A (p.Gln96=)	APOA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2273089	NM_001643.2(APOA2):c.248T>A (p.Leu83Gln)	APOA2 (L83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 632643	NM_001643.2(APOA2):c.247C>T (p.Leu83=)	APOA2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 293291	NM_001643.2(APOA2):c.243G>A (p.Thr81=)	APOA2	Single nucleotide variant (synonymous variant)	Apolipoprotein A-II deficiency	GUncertain significance
Select item 876338	NM_001643.2(APOA2):c.229A>C (p.Lys77Gln)	APOA2 (K77Q)	Single nucleotide variant (missense variant)	Apolipoprotein A-II deficiency +1 more	GUncertain significance
Select item 293292	NM_001643.2(APOA2):c.186-4C>T	APOA2	Single nucleotide variant (intron variant)	Apolipoprotein A-II deficiency +1 more	GBenign
Select item 992213	NM_001643.2(APOA2):c.186-19A>C	APOA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 17935	NM_001643.2(APOA2):c.185+1G>A	APOA2	Single nucleotide variant (splice donor variant)	APOLIPOPROTEIN A-II DEFICIENCY, FAMILIAL, DUE TO APOA-II (HIROSHIMA)	GPathogenic
Select item 3306920	NM_001643.2(APOA2):c.173A>G (p.Gln58Arg)	APOA2 (Q58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127888	NM_001643.2(APOA2):c.121G>T (p.Val41Leu)	APOA2 (V41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 874371	NM_001643.2(APOA2):c.121G>A (p.Val41Met)	APOA2 (V41M)	Single nucleotide variant (missense variant)	Apolipoprotein A-II deficiency +1 more	GUncertain significance
Select item 1339710	NM_001643.2(APOA2):c.53-11_53-4del	APOA2	Deletion (intron variant)	not specified	GBenign
Select item 1337962	NM_001643.2(APOA2):c.53-43TG[22]	APOA2	Microsatellite (intron variant)	not specified	GBenign
Select item 774279	NM_001643.2(APOA2):c.53-43TG[20]	APOA2	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 293293	NM_001643.2(APOA2):c.53-43TG[21]	APOA2	Microsatellite (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3046168	NM_001643.2(APOA2):c.53-43TG[11]	APOA2	Microsatellite (intron variant)	APOA2-related disorder	GLikely benign
Select item 933213	NM_001643.2(APOA2):c.53-43TG[18]	APOA2	Microsatellite (intron variant)	APOA2-related disorder +1 more	GBenign
Select item 929172	NM_001643.2(APOA2):c.53-43TG[14]	APOA2	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 928702	NM_001643.2(APOA2):c.53-43TG[15]	APOA2	Microsatellite (intron variant)	not specified	GBenign
Select item 928640	NM_001643.2(APOA2):c.53-43TG[13]	APOA2	Microsatellite (intron variant)	not specified	GBenign
Select item 293295	NM_001643.2(APOA2):c.53-43TG[16]	APOA2	Microsatellite (intron variant)	APOA2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 293294	NM_001643.2(APOA2):c.53-43TG[17]	APOA2	Microsatellite (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 806259	NM_001643.2(APOA2):c.52+3G>A	APOA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 293296	NM_001643.2(APOA2):c.-21G>A	APOA2	Single nucleotide variant (5 prime UTR variant)	Apolipoprotein A-II deficiency	GUncertain significance
Select item 293297	NM_001643.2(APOA2):c.-47C>T	APOA2	Single nucleotide variant (5 prime UTR variant)	Apolipoprotein A-II deficiency	GUncertain significance
Select item 17936	NC_000001.11:g.161223893G>A	APOA2	Single nucleotide variant	Hypercholesterolemia, familial, 1	GPathogenic
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2425149	NC_000001.10:g.(?_161178963)_(161193683_?)dup	APOA2, FCER1G +1 more	Duplication	not provided	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	APOA2, ARHGAP30 +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814134	GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3	ADAMTS4, APOA2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 687408	GRCh37/hg19 1q23.3(chr1:161134612-161422225)x3	ADAMTS4, APOA2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 48