28672[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 148281	GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1	LOC130062052, LOC130062053 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 60176	GRCh38/hg38 17q25.3(chr17:82078456-82568008)x3	CCDC57, CD7 +73 more	Copy number gain	See cases	GUncertain significance
Select item 153487	GRCh38/hg38 17q25.3(chr17:82326074-82856150)x3	LOC130062057, LOC130062058 +54 more	Copy number gain	See cases	GUncertain significance
Select item 1243544	NM_001033046.4(CYBC1):c.*230G>A	CYBC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1682687	NM_001033046.4(CYBC1):c.562T>G (p.Ter188Gly)	CYBC1	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 1682688	NM_001033046.4(CYBC1):c.541G>A (p.Gly181Ser)	CYBC1 (G167S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682689	NM_001033046.4(CYBC1):c.540C>T (p.Ala180=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682690	NM_001033046.4(CYBC1):c.529G>A (p.Asp177Asn)	CYBC1 (D163N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2909546	NM_001033046.4(CYBC1):c.528C>T (p.Ser176=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2020247	NM_001033046.4(CYBC1):c.522G>A (p.Gln174=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3016109	NM_001033046.4(CYBC1):c.516G>C (p.Leu172=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2857428	NM_001033046.4(CYBC1):c.513G>A (p.Glu171=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682691	NM_001033046.4(CYBC1):c.509C>T (p.Thr170Ile)	CYBC1 (T156I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1946823	NM_001033046.4(CYBC1):c.503G>C (p.Ser168Thr)	CYBC1 (S168T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2067501	NM_001033046.4(CYBC1):c.500A>C (p.Glu167Ala)	CYBC1 (E167A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1167726	NM_001033046.4(CYBC1):c.498T>C (p.Leu166=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1968668	NM_001033046.4(CYBC1):c.494G>T (p.Cys165Phe)	CYBC1 (C151F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1937881	NM_001033046.4(CYBC1):c.490C>T (p.His164Tyr)	CYBC1 (H150Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1148857	NM_001033046.4(CYBC1):c.469A>G (p.Ile157Val)	CYBC1 (I143V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2891379	NM_001033046.4(CYBC1):c.465G>A (p.Lys155=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1682692	NM_001033046.4(CYBC1):c.464A>G (p.Lys155Arg)	CYBC1 (K141R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682693	NM_001033046.4(CYBC1):c.459C>T (p.Ile153=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682694	NM_001033046.4(CYBC1):c.456C>T (p.Ala152=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682695	NM_001033046.4(CYBC1):c.444-1G>C	CYBC1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1682696	NM_001033046.4(CYBC1):c.444-6G>A	CYBC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955304	NM_001033046.4(CYBC1):c.444-12G>A	CYBC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1682697	NM_001033046.4(CYBC1):c.444-18G>A	CYBC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1682698	NM_001033046.4(CYBC1):c.444-20_444-19delinsTA	CYBC1	Indel (intron variant)	not provided	GUncertain significance
Select item 1108797	NM_001033046.4(CYBC1):c.444-19C>T	CYBC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247404	NM_001033046.4(CYBC1):c.444-41C>T	CYBC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279797	NM_001033046.4(CYBC1):c.444-45A>G	CYBC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1238563	NM_001033046.4(CYBC1):c.444-154G>T	CYBC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262950	NM_001033046.4(CYBC1):c.443+27C>T	CYBC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1682699	NM_001033046.4(CYBC1):c.443+15C>T	CYBC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1682700	NM_001033046.4(CYBC1):c.440G>A (p.Arg147His)	CYBC1 (R133H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932862	NM_001033046.4(CYBC1):c.439C>T (p.Arg147Cys)	CYBC1 (R147C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1920677	NM_001033046.4(CYBC1):c.433G>C (p.Gly145Arg)	CYBC1 (G145R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682701	NM_001033046.4(CYBC1):c.422G>A (p.Ser141Asn)	CYBC1 (S127N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2116644	NM_001033046.4(CYBC1):c.418C>A (p.Gln140Lys)	CYBC1 (Q126K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1925803	NM_001033046.4(CYBC1):c.417G>A (p.Thr139=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682702	NM_001033046.4(CYBC1):c.416C>T (p.Thr139Met)	CYBC1 (T125M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1936727	NM_001033046.4(CYBC1):c.415A>G (p.Thr139Ala)	CYBC1 (T139A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682703	NM_001033046.4(CYBC1):c.412C>G (p.Leu138Val)	CYBC1 (L124V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2032495	NM_001033046.4(CYBC1):c.411C>A (p.Pro137=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1969211	NM_001033046.4(CYBC1):c.396G>A (p.Thr132=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682704	NM_001033046.4(CYBC1):c.395C>T (p.Thr132Met)	CYBC1 (T118M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682705	NM_001033046.4(CYBC1):c.392C>T (p.Ala131Val)	CYBC1 (A117V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2147713	NM_001033046.4(CYBC1):c.385C>T (p.Arg129Trp)	CYBC1 (R115W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1682706	NM_001033046.4(CYBC1):c.384C>T (p.Leu128=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2127079	NM_001033046.4(CYBC1):c.376G>A (p.Val126Met)	CYBC1 (V126M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 493224	NM_001033046.4(CYBC1):c.372_373dup (p.Met125fs)	CYBC1 (M125fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2757266	NM_001033046.4(CYBC1):c.363del (p.Gly123fs)	CYBC1 (G123fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1682707	NM_001033046.4(CYBC1):c.360C>T (p.Phe120=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2113092	NM_001033046.4(CYBC1):c.357C>T (p.Tyr119=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1962436	NM_001033046.4(CYBC1):c.355T>G (p.Tyr119Asp)	CYBC1 (Y105D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682708	NM_001033046.4(CYBC1):c.352C>T (p.Arg118Trp)	CYBC1 (R104W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2998276	NM_001033046.4(CYBC1):c.342G>A (p.Glu114=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682709	NM_001033046.4(CYBC1):c.340G>A (p.Glu114Lys)	CYBC1 (E100K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2871691	NM_001033046.4(CYBC1):c.330G>C (p.Val110=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2196585	NM_001033046.4(CYBC1):c.327T>C (p.Asp109=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989923	NM_001033046.4(CYBC1):c.319G>A (p.Val107Ile)	CYBC1 (V93I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2768212	NM_001033046.4(CYBC1):c.318T>C (p.Asp106=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1968393	NM_001033046.4(CYBC1):c.302T>C (p.Val101Ala)	CYBC1 (V101A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2130756	NM_001033046.4(CYBC1):c.299-3C>T	CYBC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1682710	NM_001033046.4(CYBC1):c.299-5C>T	CYBC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964750	NM_001033046.4(CYBC1):c.299-12G>A	CYBC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1682712	NM_001033046.4(CYBC1):c.299-13C>G	CYBC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1682711	NM_001033046.4(CYBC1):c.299-13C>T	CYBC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253524	NM_001033046.4(CYBC1):c.299-23G>A	CYBC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1682713	NM_001033046.4(CYBC1):c.298+15_298+23del	CYBC1	Deletion (intron variant)	not provided	GLikely benign
Select item 2077929	NM_001033046.4(CYBC1):c.298+18T>G	CYBC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919049	NM_001033046.4(CYBC1):c.298+17G>A	CYBC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1682714	NM_001033046.4(CYBC1):c.298+15G>C	CYBC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973757	NM_001033046.4(CYBC1):c.298+11G>A	CYBC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2648497	NM_001033046.4(CYBC1):c.298+8G>A	CYBC1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2806733	NM_001033046.4(CYBC1):c.298+7C>T	CYBC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034053	NM_001033046.4(CYBC1):c.298+7C>A	CYBC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1955809	NM_001033046.4(CYBC1):c.294C>T (p.Asp98=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682715	NM_001033046.4(CYBC1):c.292G>A (p.Asp98Asn)	CYBC1 (D84N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1166731	NM_001033046.4(CYBC1):c.291C>T (p.His97=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1682716	NM_001033046.4(CYBC1):c.289C>T (p.His97Tyr)	CYBC1 (H83Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2810156	NM_001033046.4(CYBC1):c.276T>C (p.Leu92=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2800887	NM_001033046.4(CYBC1):c.273del (p.Leu92fs)	CYBC1 (L78fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1682717	NM_001033046.4(CYBC1):c.271A>G (p.Thr91Ala)	CYBC1 (T77A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2970627	NM_001033046.4(CYBC1):c.267G>A (p.Leu89=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2025894	NM_001033046.4(CYBC1):c.258C>T (p.Tyr86=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682718	NM_001033046.4(CYBC1):c.250A>G (p.Ser84Gly)	CYBC1 (S70G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012361	NM_001033046.4(CYBC1):c.249C>T (p.Phe83=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993103	NM_001033046.4(CYBC1):c.246G>A (p.Thr82=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682719	NM_001033046.4(CYBC1):c.245C>T (p.Thr82Met)	CYBC1 (T68M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682720	NM_001033046.4(CYBC1):c.241A>G (p.Lys81Glu)	CYBC1 (K67E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1991092	NM_001033046.4(CYBC1):c.231G>A (p.Lys77=)	CYBC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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