CGA[gene] - ClinVar

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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

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Items: 31