3527[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 648

<< First< Prev

Page of 7

	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 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 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 149558	GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4	ACTR3C, ARHGEF35 +172 more	Copy number gain	See cases	GLikely pathogenic
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 146688	GRCh38/hg38 7q35-36.1(chr7:145999194-148860586)x1	C7orf33, CNTNAP2 +26 more	Copy number loss	See cases	GLikely pathogenic
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 57185	GRCh38/hg38 7q35-36.1(chr7:147345844-150426340)x1	ACTR3C, ATP6V0E2 +142 more	Copy number loss	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 369578	NM_004456.4(EZH2):c.*275A>G	EZH2	Single nucleotide variant	Weaver syndrome	GLikely benign
Select item 259400	NM_004456.5(EZH2):c.*21del	EZH2	Deletion (3 prime UTR variant)	not specified +2 more	GBenign
Select item 1405308	NM_004456.5(EZH2):c.2250C>G (p.Ile750Met)	EZH2 (I736M +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 158584	NM_004456.5(EZH2):c.2236A>G (p.Arg746Gly)	EZH2 (R746G +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GLikely pathogenic
Select item 975993	NM_004456.5(EZH2):c.2235A>T (p.Glu745Asp)	EZH2 (E689D +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GPathogenic
Select item 636330	NM_004456.5(EZH2):c.2234A>G (p.Glu745Gly)	EZH2 (E745G +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 3068063	NM_004456.5(EZH2):c.2230_2232dup (p.Ile744_Glu745insIle)	EZH2	Duplication (inframe_insertion)	Weaver syndrome	GUncertain significance
Select item 2663660	NM_004456.5(EZH2):c.2233G>T (p.Glu745Ter)	EZH2 (E689* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 65675	NM_004456.5(EZH2):c.2233G>A (p.Glu745Lys)	EZH2 (E745K +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome +1 more	GPathogenic
Select item 384018	NM_004456.5(EZH2):c.2232C>T (p.Ile744=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome +1 more	GLikely benign
Select item 416830	NM_004456.5(EZH2):c.2226C>T (p.Val742=)	EZH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 703680	NM_004456.5(EZH2):c.2223T>C (p.Tyr741=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 577229	NM_004456.5(EZH2):c.2218_2220dup (p.Lys740dup)	EZH2	Duplication (inframe_insertion)	Weaver syndrome	GLikely pathogenic
Select item 421581	NM_004456.5(EZH2):c.2221T>C (p.Tyr741His)	EZH2 (Y741H +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2800912	NM_004456.5(EZH2):c.2220G>C (p.Lys740Asn)	EZH2 (K684N +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 798735	NM_004456.5(EZH2):c.2217G>T (p.Leu739=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2904985	NM_004456.5(EZH2):c.2214C>T (p.Ala738=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 430846	NM_004456.5(EZH2):c.2213C>A (p.Ala738Asp)	EZH2 (A738D +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GLikely pathogenic
Select item 1700628	NM_004456.5(EZH2):c.2204_2211dup (p.Ala738fs)	EZH2 (A682fs +4 more)	Duplication (frameshift variant)	Weaver syndrome	GPathogenic
Select item 1307224	NM_004456.5(EZH2):c.2212G>A (p.Ala738Thr)	EZH2 (A682T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488858	NM_004456.5(EZH2):c.2203C>T (p.Gln735Ter)	EZH2 (Q735* +4 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2901047	NM_004456.5(EZH2):c.2199C>T (p.Tyr733=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 1700627	NM_004456.5(EZH2):c.2199C>G (p.Tyr733Ter)	EZH2 (Y677* +3 more)	Single nucleotide variant (nonsense)	Weaver syndrome	GPathogenic
Select item 643660	NM_004456.5(EZH2):c.2196-10_2197dup	EZH2	Duplication (splice acceptor variant)	Weaver syndrome	GLikely pathogenic
Select item 655635	NM_004456.5(EZH2):c.2196-2A>G	EZH2	Single nucleotide variant (splice acceptor variant)	Weaver syndrome	GUncertain significance
Select item 377836	NM_004456.5(EZH2):c.2196-20T>C	EZH2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 680130	NM_004456.5(EZH2):c.2196-61_2196-57dup	EZH2	Duplication (intron variant)	not provided	GBenign
Select item 1295920	NM_004456.5(EZH2):c.2196-110_2196-109del	EZH2	Deletion (intron variant)	not provided	GBenign
Select item 1293395	NM_004456.5(EZH2):c.2196-111_2196-109del	EZH2	Deletion (intron variant)	not provided	GBenign
Select item 1268894	NM_004456.5(EZH2):c.2196-115_2196-109del	EZH2	Deletion (intron variant)	not provided	GBenign
Select item 1260658	NM_004456.5(EZH2):c.2196-109del	EZH2	Deletion (intron variant)	not provided	GBenign
Select item 670397	NM_004456.5(EZH2):c.2196-130T>G	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193823	NM_004456.5(EZH2):c.2196-188C>G	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677792	NM_004456.5(EZH2):c.2196-244A>G	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277500	NM_004456.5(EZH2):c.2195+178T>C	EZH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210962	NM_004456.5(EZH2):c.2195+152T>C	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200680	NM_004456.5(EZH2):c.2195+110G>A	EZH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680128	NM_004456.5(EZH2):c.2195+99T>C	EZH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1039258	NM_004456.5(EZH2):c.2195+4G>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GUncertain significance
Select item 957260	NM_004456.5(EZH2):c.2195+4G>A	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GUncertain significance
Select item 3024349	NM_004456.5(EZH2):c.2195+1G>A	EZH2	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 431817	NM_004456.5(EZH2):c.2191T>C (p.Tyr731His)	EZH2 (Y731H +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 210967	NM_004456.5(EZH2):c.2187dup (p.Asp730Ter)	EZH2 (D686* +4 more)	Duplication (nonsense)	Weaver syndrome +1 more	GPathogenic/Likely pathogenic
Select item 648972	NM_004456.5(EZH2):c.2187T>G (p.Phe729Leu)	EZH2 (F673L +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GLikely pathogenic
Select item 1699242	NM_004456.5(EZH2):c.2185T>C (p.Phe729Leu)	EZH2 (F673L +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GPathogenic
Select item 2143970	NM_004456.5(EZH2):c.2173G>A (p.Glu725Lys)	EZH2 (E725K +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 699362	NM_004456.5(EZH2):c.2172C>T (p.Gly724=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 1905021	NM_004456.5(EZH2):c.2166G>A (p.Gln722=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 3276914	NM_004456.5(EZH2):c.2154G>C (p.Lys718Asn)	EZH2 (K662N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1551933	NM_004456.5(EZH2):c.2136G>A (p.Arg712=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 640527	NM_004456.5(EZH2):c.2132A>T (p.His711Leu)	EZH2 (H697L +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GLikely pathogenic
Select item 2157090	NM_004456.5(EZH2):c.2130T>C (p.Asp710=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 1086713	NM_004456.5(EZH2):c.2124C>T (p.Asn708=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 1310707	NM_004456.5(EZH2):c.2118G>A (p.Met706Ile)	EZH2 (M650I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062112	NM_004456.5(EZH2):c.2111-3_2115dup	EZH2	Duplication (splice acceptor variant)	Weaver syndrome	GUncertain significance
Select item 2898796	NM_004456.5(EZH2):c.2113A>G (p.Met705Val)	EZH2 (M700V +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 1931560	NM_004456.5(EZH2):c.2111-5T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 1078299	NM_004456.5(EZH2):c.2111-6T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2860355	NM_004456.5(EZH2):c.2111-8C>T	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 1672659	NM_004456.5(EZH2):c.2111-10C>T	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2754746	NM_004456.5(EZH2):c.2111-16GT[2]	EZH2	Microsatellite (intron variant)	Weaver syndrome	GLikely benign
Select item 2126971	NM_004456.5(EZH2):c.2111-15T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 1268221	NM_004456.5(EZH2):c.2111-46C>T	EZH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670473	NM_004456.5(EZH2):c.2110+39A>C	EZH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2759712	NM_004456.5(EZH2):c.2110+17T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 1915892	NM_004456.5(EZH2):c.2110+16G>A	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 1626503	NM_004456.5(EZH2):c.2110+15C>T	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 459202	NM_004456.5(EZH2):c.2110+9C>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 1620450	NM_004456.5(EZH2):c.2110+8C>T	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign

<< First< Prev

Page of 7