8111[geneid] - ClinVar

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Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC132090296, LOC132090297 +1422 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	LOC130056647, LOC130056648 +1203 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056481, LOC130056482 +1072 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58334	GRCh38/hg38 14q32.11(chr14:90495001-91296461)x3	CCDC88C, DGLUCY +45 more	Copy number gain	See cases	GUncertain significance
Select item 2205878	NM_001177676.2(GPR68):c.1063G>C (p.Gly355Arg)	GPR68 (G355R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728166	NM_001177676.2(GPR68):c.1006G>T (p.Glu336Ter)	GPR68 (E336*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2522889	NM_001177676.2(GPR68):c.994G>A (p.Gly332Arg)	GPR68 (G332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728167	NM_001177676.2(GPR68):c.990A>T (p.Lys330Asn)	GPR68 (K330N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1805454	NM_001177676.2(GPR68):c.975dup (p.Glu326fs)	GPR68 (E326fs)	Duplication (frameshift variant)	Amelogenesis imperfecta, hypomaturation type, IIa6	GUncertain significance
Select item 3282430	NM_001177676.2(GPR68):c.968G>A (p.Gly323Asp)	GPR68 (G323D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493313	NM_001177676.2(GPR68):c.940G>A (p.Gly314Ser)	GPR68 (G314S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3038180	NM_001177676.2(GPR68):c.870C>T (p.Ser290=)	GPR68	Single nucleotide variant (synonymous variant)	GPR68-related disorder	GLikely benign
Select item 2553217	NM_001177676.2(GPR68):c.859T>G (p.Cys287Gly)	GPR68 (C287G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055827	NM_001177676.2(GPR68):c.843C>G (p.Ala281=)	GPR68	Single nucleotide variant (synonymous variant)	GPR68-related disorder	GLikely benign
Select item 268084	NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del)	GPR68	Deletion (inframe_deletion)	Amelogenesis imperfecta, hypomaturation type, IIa6 +1 more	GPathogenic
Select item 3282431	NM_001177676.2(GPR68):c.790G>A (p.Val264Ile)	GPR68 (V264I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523160	NM_001177676.2(GPR68):c.775G>A (p.Asp259Asn)	GPR68 (D259N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590260	NM_001177676.2(GPR68):c.698C>G (p.Thr233Ser)	GPR68 (T233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310611	NM_001177676.2(GPR68):c.683G>A (p.Arg228Gln)	GPR68 (R228Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 268085	NM_001177676.2(GPR68):c.667_668del (p.Lys223fs)	GPR68 (K223fs)	Deletion (frameshift variant)	Amelogenesis imperfecta, hypomaturation type, IIa6 +1 more	GPathogenic
Select item 2394414	NM_001177676.2(GPR68):c.657G>C (p.Gln219His)	GPR68 (Q219H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101829	NM_001177676.2(GPR68):c.616C>G (p.Gln206Glu)	GPR68 (Q206E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101828	NM_001177676.2(GPR68):c.614A>C (p.Tyr205Ser)	GPR68 (Y205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1286992	NM_001177676.2(GPR68):c.549C>T (p.Arg183=)	GPR68	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3101826	NM_001177676.2(GPR68):c.523C>T (p.His175Tyr)	GPR68 (H175Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101825	NM_001177676.2(GPR68):c.520G>C (p.Glu174Gln)	GPR68 (E174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536420	NM_001177676.2(GPR68):c.507C>G (p.His169Gln)	GPR68 (H169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354694	NM_001177676.2(GPR68):c.496G>A (p.Glu166Lys)	GPR68 (E166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101824	NM_001177676.2(GPR68):c.467T>A (p.Phe156Tyr)	GPR68 (F156Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035539	NM_001177676.2(GPR68):c.423C>T (p.Val141=)	GPR68	Single nucleotide variant (synonymous variant)	GPR68-related disorder	GLikely benign
Select item 2385515	NM_001177676.2(GPR68):c.412G>A (p.Ala138Thr)	GPR68 (A138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520562	NM_001177676.2(GPR68):c.382C>T (p.Arg128Cys)	GPR68 (R128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034602	NM_001177676.2(GPR68):c.372C>A (p.Ala124=)	GPR68	Single nucleotide variant (synonymous variant)	GPR68-related disorder	GLikely benign
Select item 3050080	NM_001177676.2(GPR68):c.360C>T (p.Tyr120=)	GPR68	Single nucleotide variant (synonymous variant)	GPR68-related disorder	GLikely benign
Select item 2295563	NM_001177676.2(GPR68):c.344T>C (p.Ile115Thr)	GPR68 (I115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040577	NM_001177676.2(GPR68):c.342C>T (p.Cys114=)	GPR68	Single nucleotide variant (synonymous variant)	GPR68-related disorder	GLikely benign
Select item 2205440	NM_001177676.2(GPR68):c.307G>A (p.Glu103Lys)	GPR68 (E103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 268086	NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro)	GPR68 (L74P)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, hypomaturation type, IIa6 +1 more	GPathogenic
Select item 3035041	NM_001177676.2(GPR68):c.219G>A (p.Ser73=)	GPR68	Single nucleotide variant (synonymous variant)	GPR68-related disorder	GLikely benign
Select item 3053617	NM_001177676.2(GPR68):c.135C>T (p.Phe45=)	GPR68	Single nucleotide variant (synonymous variant)	GPR68-related disorder	GLikely benign
Select item 1181225	NM_001177676.2(GPR68):c.114C>T (p.Ala38=)	GPR68	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3101822	NM_001177676.2(GPR68):c.113C>T (p.Ala38Val)	GPR68 (A38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326287	NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs)	GPR68 (V27fs)	Indel (frameshift variant)	Amelogenesis imperfecta	GPathogenic
Select item 3101827	NM_001177676.2(GPR68):c.52A>G (p.Thr18Ala)	GPR68 (T18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274562	NM_001177676.2(GPR68):c.-129-305TTAT[11]	GPR68	Microsatellite (intron variant)	not provided	GBenign
Select item 1269278	NM_001177676.2(GPR68):c.-129-305TTAT[9]	GPR68	Microsatellite (intron variant)	not provided	GBenign
Select item 1263752	NM_001177676.2(GPR68):c.-129-305TTAT[10]	GPR68	Microsatellite (intron variant)	not provided	GBenign
Select item 1241549	NM_001177676.2(GPR68):c.-129-305TTAT[7]	GPR68	Microsatellite (intron variant)	not provided	GBenign
Select item 1260988	NM_001177676.2(GPR68):c.-129-264T>A	GPR68	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	SLC24A4, TC2N +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1526433	GRCh37/hg19 14q32.11(chr14:91006120-91753359)	CCDC88C, DGLUCY +3 more	Copy number gain	not specified	GUncertain significance
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 564122	GRCh37/hg19 14q32.11-32.12(chr14:91355698-91945296)x3	DGLUCY, CCDC88C +3 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 68