1774[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	ABCB8, ABCF2 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 3037340	NM_004935.4(CDK5):c.*5C>T	CDK5	Single nucleotide variant (3 prime UTR variant)	CDK5-related disorder	GBenign
Select item 3047550	NM_004935.4(CDK5):c.837G>A (p.Glu279=)	CDK5	Single nucleotide variant (synonymous variant)	CDK5-related disorder	GLikely benign
Select item 799770	NM_004935.4(CDK5):c.828A>C (p.Ser276=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910116	NM_004935.4(CDK5):c.792+20G>A	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1361450	NM_004935.4(CDK5):c.754G>A (p.Val252Met)	CDK5 (V220M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736427	NM_004935.4(CDK5):c.753C>T (p.Val251=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084412	NM_004935.4(CDK5):c.729G>A (p.Pro243=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 434642	NM_004935.4(CDK5):c.720G>T (p.Pro240=)	CDK5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2164337	NM_004935.4(CDK5):c.719C>T (p.Pro240Leu)	CDK5 (P240L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075260	NM_004935.4(CDK5):c.711+8G>T	CDK5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2085327	NM_004935.4(CDK5):c.688A>G (p.Met230Val)	CDK5 (M198V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3016493	NM_004935.4(CDK5):c.669C>G (p.Thr223=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624945	NM_004935.4(CDK5):c.669C>T (p.Thr223=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 434643	NM_004935.4(CDK5):c.651-9C>T	CDK5	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 757638	NM_004935.4(CDK5):c.651-10C>T	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755146	NM_004935.4(CDK5):c.651-18C>T	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900785	NM_004935.4(CDK5):c.650+14C>A	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 745597	NM_004935.4(CDK5):c.612C>T (p.Pro204=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991822	NM_004935.4(CDK5):c.581-15_581-14del	CDK5	Deletion (intron variant)	not provided	GBenign
Select item 1932894	NM_004935.4(CDK5):c.581-15C>T	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875016	NM_004935.4(CDK5):c.580+14G>C	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 190117	NM_004935.4(CDK5):c.580+1G>A	CDK5	Single nucleotide variant (splice donor variant)	Lissencephaly 7 with cerebellar hypoplasia	GPathogenic
Select item 764941	NM_004935.4(CDK5):c.549C>T (p.Ile183=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2317481	NM_004935.4(CDK5):c.542C>T (p.Thr181Met)	CDK5 (T181M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1645066	NM_004935.4(CDK5):c.484-11dup	CDK5	Duplication (intron variant)	not provided	GBenign
Select item 1988580	NM_004935.4(CDK5):c.484-11del	CDK5	Deletion (intron variant)	not provided	GBenign
Select item 2990113	NM_004935.4(CDK5):c.484-19C>T	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1565175	NM_004935.4(CDK5):c.483+16G>A	CDK5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600506	NM_004935.4(CDK5):c.483+11A>C	CDK5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2043649	NM_004935.4(CDK5):c.483+8A>G	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890666	NM_004935.4(CDK5):c.462C>T (p.Pro154=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2282224	NM_004935.4(CDK5):c.413G>C (p.Gly138Ala)	CDK5 (G106A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1609373	NM_004935.4(CDK5):c.408+20T>C	CDK5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 731171	NM_004935.4(CDK5):c.408+9T>C	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911921	NM_004935.4(CDK5):c.393C>T (p.Asn131=)	CDK5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2387867	NM_004935.4(CDK5):c.362A>G (p.Asn121Ser)	CDK5 (N121S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602938	NM_004935.4(CDK5):c.359G>A (p.Arg120His)	CDK5 (R120H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141552	NM_004935.4(CDK5):c.358C>T (p.Arg120Cys)	CDK5 (R120C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1617851	NM_004935.4(CDK5):c.313-15C>G	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962753	NM_004935.4(CDK5):c.312+13G>A	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919596	NM_004935.4(CDK5):c.312+9A>G	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766252	NM_004935.4(CDK5):c.312+3G>A	CDK5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1622669	NM_004935.4(CDK5):c.285T>C (p.Asn95=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980135	NM_004935.4(CDK5):c.276C>T (p.Asp92=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958443	NM_004935.4(CDK5):c.270T>C (p.Tyr90=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087387	NM_004935.4(CDK5):c.256-17C>T	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2173573	NM_004935.4(CDK5):c.255+10G>A	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3037083	NM_004935.4(CDK5):c.216C>T (p.Ser72=)	CDK5	Single nucleotide variant (synonymous variant)	CDK5-related disorder	GLikely benign
Select item 2956776	NM_004935.4(CDK5):c.194+12G>A	CDK5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2683824	NM_004935.4(CDK5):c.149G>A (p.Arg50Gln)	CDK5 (R50Q)	Single nucleotide variant (missense variant)	Lissencephaly 7 with cerebellar hypoplasia	GUncertain significance
Select item 2874539	NM_004935.4(CDK5):c.78T>C (p.Thr26=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898554	NM_004935.4(CDK5):c.75G>A (p.Glu25=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933455	NM_004935.4(CDK5):c.38-17T>C	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1992448	NM_004935.4(CDK5):c.37+4A>G	CDK5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3245697	NC_000007.13:g.(?_150643945)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ABCB8, ABCF2 +31 more	Deletion	not provided	GPathogenic
Select item 2426280	NC_000007.13:g.(?_150642453)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2425238	NC_000007.13:g.(?_150324807)_(152373164_?)dup	ABCB8, ABCF2 +30 more	Duplication	not provided	GUncertain significance
Select item 2425237	NC_000007.13:g.(?_150324807)_(152373164_?)del	ABCB8, ABCF2 +30 more	Deletion	not provided	GPathogenic

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