8489[HGNC] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	LOC129996748, LOC129996749 +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	LOC121740658, LOC123775380 +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	RARS2, RNGTT +153 more	Copy number loss	See cases	GPathogenic
Select item 1186090	NM_012381.4(ORC3):c.-2C>G	ORC3, RARS2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2353449	NM_012381.4(ORC3):c.18G>A (p.Met6Ile)	ORC3 (M6I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1273619	NM_012381.4(ORC3):c.24+103A>G	ORC3, RARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3206957	NM_012381.4(ORC3):c.34G>T (p.Val12Phe)	ORC3 (V12F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2609100	NM_012381.4(ORC3):c.43C>T (p.Pro15Ser)	ORC3 (P15S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3206959	NM_012381.4(ORC3):c.49T>A (p.Ser17Thr)	ORC3 (S17T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2486300	NM_012381.4(ORC3):c.86A>G (p.Tyr29Cys)	ORC3 (Y29C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206949	NM_012381.4(ORC3):c.133G>A (p.Glu45Lys)	ORC3 (E45K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206950	NM_012381.4(ORC3):c.151T>C (p.Trp51Arg)	ORC3 (W51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460382	NM_012381.4(ORC3):c.165A>C (p.Lys55Asn)	ORC3 (K55N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206956	NM_012381.4(ORC3):c.202A>G (p.Asn68Asp)	ORC3 (N68D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2399777	NM_012381.4(ORC3):c.245C>G (p.Ser82Cys)	ORC3 (S82C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2288127	NM_012381.4(ORC3):c.305C>T (p.Thr102Ile)	ORC3 (T102I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3206958	NM_012381.4(ORC3):c.355G>A (p.Gly119Arg)	ORC3 (G119R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2487168	NM_012381.4(ORC3):c.503A>G (p.Glu168Gly)	ORC3 (E168G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402236	NM_012381.4(ORC3):c.514G>A (p.Val172Ile)	ORC3 (V172I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282127	NM_012381.4(ORC3):c.584C>T (p.Thr195Met)	ORC3 (T52M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068442	NM_012381.4(ORC3):c.647T>A (p.Val216Asp)	ORC3 (V216D +1 more)	Single nucleotide variant (missense variant)	ORC3-related disorder	GLikely pathogenic
Select item 2336355	NM_012381.4(ORC3):c.755T>A (p.Ile252Lys)	ORC3 (I109K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206960	NM_012381.4(ORC3):c.847G>A (p.Glu283Lys)	ORC3 (E140K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068448	NM_012381.4(ORC3):c.873+4A>G	ORC3	Single nucleotide variant (intron variant)	ORC3-related disorder	GLikely pathogenic
Select item 3206961	NM_012381.4(ORC3):c.925G>A (p.Val309Ile)	ORC3 (V166I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212781	NM_012381.4(ORC3):c.968A>C (p.Asn323Thr)	ORC3 (N180T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566975	NM_012381.4(ORC3):c.1100G>A (p.Arg367Gln)	ORC3 (R367Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206946	NM_012381.4(ORC3):c.1103G>A (p.Arg368His)	ORC3 (R225H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611697	NM_012381.4(ORC3):c.1122G>A (p.Arg374=)	ORC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3206947	NM_012381.4(ORC3):c.1177T>C (p.Tyr393His)	ORC3 (Y393H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599363	NM_012381.4(ORC3):c.1212C>G (p.Asn404Lys)	ORC3 (N261K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315553	NM_012381.4(ORC3):c.1216C>A (p.His406Asn)	ORC3 (H263N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302163	NM_012381.4(ORC3):c.1286A>G (p.Tyr429Cys)	ORC3 (Y429C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206948	NM_012381.4(ORC3):c.1289C>T (p.Pro430Leu)	ORC3 (P430L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292509	NM_012381.4(ORC3):c.1304T>A (p.Ile435Asn)	ORC3 (I292N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325177	NM_012381.4(ORC3):c.1342T>C (p.Trp448Arg)	ORC3 (W305R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526245	NM_012381.4(ORC3):c.1423T>A (p.Cys475Ser)	ORC3 (C332S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244044	NM_012381.4(ORC3):c.1489T>C (p.Phe497Leu)	ORC3 (F354L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259825	NM_012381.4(ORC3):c.1586T>C (p.Leu529Pro)	ORC3 (L530P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206951	NM_012381.4(ORC3):c.1608G>T (p.Met536Ile)	ORC3 (M393I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206953	NM_012381.4(ORC3):c.1727A>T (p.His576Leu)	ORC3 (H433L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206954	NM_012381.4(ORC3):c.1736T>C (p.Val579Ala)	ORC3 (V436A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521377	NM_012381.4(ORC3):c.1757C>G (p.Ala586Gly)	ORC3 (A443G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206955	NM_012381.4(ORC3):c.1762C>T (p.Arg588Cys)	ORC3 (R589C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244899	NM_012381.4(ORC3):c.1781C>T (p.Ala594Val)	ORC3 (A594V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341709	NM_012381.4(ORC3):c.1784C>T (p.Pro595Leu)	ORC3 (P452L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548994	NM_012381.4(ORC3):c.1862G>A (p.Cys621Tyr)	ORC3 (C478Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309412	NM_012381.4(ORC3):c.1908C>G (p.His636Gln)	ORC3 (H493Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288828	NM_012381.4(ORC3):c.1928T>G (p.Ile643Ser)	ORC3 (I644S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375664	NM_012381.4(ORC3):c.1999G>A (p.Ala667Thr)	ORC3 (A524T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343433	NM_012381.4(ORC3):c.2002A>G (p.Thr668Ala)	ORC3 (T668A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467771	NM_012381.4(ORC3):c.2036G>A (p.Arg679Gln)	ORC3 (R680Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785176	NM_018064.4(AKIRIN2):c.600C>T (p.Ser200=)	AKIRIN2, ORC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3062883	GRCh37/hg19 6q15(chr6:88039867-88305895)x1	C6orf163, CFAP206 +4 more	Copy number loss	not specified	GPathogenic
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)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1341258	GRCh37/hg19 6q15(chr6:88270946-88360892)x1	ORC3, RARS2	Copy number loss	not provided	GUncertain significance
Select item 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
Select item 689189	GRCh37/hg19 6q15(chr6:88095499-88341035)x1	CFAP206, ORC3 +2 more	Copy number loss	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 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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 72