1081[Gene ID] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	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 148698	GRCh38/hg38 6q14.3-15(chr6:84926864-87365441)x1	C6orf163, CGA +34 more	Copy number loss	See cases	GLikely pathogenic
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 146699	GRCh38/hg38 6q14.3-15(chr6:86259565-87312972)x3	CGA, GJB7 +13 more	Copy number gain	See cases	GUncertain significance
Select item 152415	GRCh38/hg38 6q14.3-15(chr6:87050381-87535518)x1	C6orf163, CFAP206 +16 more	Copy number loss	See cases	GUncertain significance
Select item 714315	NM_000735.4(CGA):c.274-6C>T	CGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 736145	NM_000735.4(CGA):c.228C>T (p.Asn76=)	CGA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 742220	NM_000735.4(CGA):c.195A>G (p.Leu65=)	CGA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1340905	GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1	CEP162, CGA +20 more	Copy number loss	not provided	GPathogenic
Select item 814844	GRCh37/hg19 6q14.3(chr6:87724126-87800047)x1	CGA, HTR1E	Copy number loss	not provided	GUncertain significance
Select item 814843	GRCh37/hg19 6q14.3(chr6:87564055-87921049)x3	HTR1E, ZNF292 +1 more	Copy number gain	not provided	GLikely benign
Select item 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
Select item 688509	GRCh37/hg19 6q14.3(chr6:87561324-87920197)x3	CGA, HTR1E +1 more	Copy number gain	not provided	GUncertain significance
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 686768	GRCh37/hg19 6q14.3(chr6:86702329-87861145)x3	CGA, HTR1E	Copy number gain	not provided	GUncertain significance
Select item 685658	GRCh37/hg19 6q14.3(chr6:87565438-87920197)x3	CGA, HTR1E +1 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 443812	GRCh37/hg19 6q14.3(chr6:86967785-87992594)x3	CGA, HTR1E +1 more	Copy number gain	See cases	GUncertain significance
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
Select item 441712	GRCh37/hg19 6q14.3(chr6:86910282-87954977)x3	CGA, HTR1E +1 more	Copy number gain	See cases	GUncertain significance
Select item 394694	GRCh37/hg19 6q14.3(chr6:87650323-87870024)x3	CGA, HTR1E +1 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31