AKIRIN2[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	LOC129389576, LOC129389577 +153 more	Copy number loss	See cases	GPathogenic
Select item 785176	NM_018064.4(AKIRIN2):c.600C>T (p.Ser200=)	AKIRIN2, ORC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3107064	NM_018064.4(AKIRIN2):c.518C>T (p.Thr173Ile)	AKIRIN2 (T173I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773881	NM_018064.4(AKIRIN2):c.379+4A>G	AKIRIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3107059	NM_018064.4(AKIRIN2):c.350C>T (p.Ala117Val)	AKIRIN2 (A117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107054	NM_018064.4(AKIRIN2):c.302G>A (p.Ser101Asn)	AKIRIN2 (S101N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561866	NM_018064.4(AKIRIN2):c.83C>G (p.Ala28Gly)	AKIRIN2, LOC129996789 (A28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208760	NM_018064.4(AKIRIN2):c.62C>T (p.Ser21Phe)	AKIRIN2 (S21F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685209	GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1	AKIRIN2, ANKRD6 +24 more	Copy number loss	not provided	GPathogenic
Select item 1808789	GRCh37/hg19 6q14.3-15(chr6:86098133-88663964)x3	AKIRIN2, C6orf163 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
Select item 688276	GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1	AKIRIN2, ANKRD6 +26 more	Copy number loss	not provided	GUncertain significance
Select item 687566	GRCh37/hg19 6q15(chr6:88153915-88410050)x3	AKIRIN2, CFAP206 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687255	GRCh37/hg19 6q15(chr6:88153915-88418531)x3	AKIRIN2, CFAP206 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 26