4621[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 150528	GRCh38/hg38 17p13.1-12(chr17:10334509-10900316)x1	ADPRM, LOC112529895 +25 more	Copy number loss	See cases	GPathogenic
Select item 1279565	NC_000017.11:g.10628350G>T	MYH3	Single nucleotide variant	not provided	GBenign
Select item 1221554	NC_000017.11:g.10628455C>T	MYH3	Single nucleotide variant	not provided	GBenign
Select item 321706	NM_002470.4(MYH3):c.*39G>A	MYH3	Single nucleotide variant (3 prime UTR variant)	Freeman-Sheldon syndrome +1 more	GConflicting classifications of pathogenicity
Select item 321707	NM_002470.4(MYH3):c.*31T>G	MYH3	Single nucleotide variant (3 prime UTR variant)	Freeman-Sheldon syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3048698	NM_002470.4(MYH3):c.*5G>C	MYH3	Single nucleotide variant (3 prime UTR variant)	MYH3-related disorder	GLikely benign
Select item 2724712	NM_002470.4(MYH3):c.5815G>A (p.Glu1939Lys)	MYH3 (E1939K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907827	NM_002470.4(MYH3):c.5809G>A (p.Glu1937Lys)	MYH3 (E1937K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421087	NM_002470.4(MYH3):c.5808C>T (p.His1936=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 321708	NM_002470.4(MYH3):c.5804T>C (p.Val1935Ala)	MYH3 (V1935A)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 2061705	NM_002470.4(MYH3):c.5800G>A (p.Val1934Met)	MYH3 (V1934M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695546	NM_002470.4(MYH3):c.5797-4C>T	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 888073	NM_002470.4(MYH3):c.5797-12C>G	MYH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2162337	NM_002470.4(MYH3):c.5797-13A>G	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693795	NM_002470.4(MYH3):c.5797-14T>C	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276040	NM_002470.4(MYH3):c.5797-213G>C	MYH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197828	NM_002470.4(MYH3):c.5797-259C>T	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295687	NM_002470.4(MYH3):c.5796+246T>G	MYH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203943	NM_002470.4(MYH3):c.5796+133T>C	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258702	NM_002470.4(MYH3):c.5796+32del	MYH3	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 258701	NM_002470.4(MYH3):c.5796+30C>T	MYH3	Single nucleotide variant (intron variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +5 more	GBenign
Select item 258700	NM_002470.4(MYH3):c.5796+29C>G	MYH3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1921651	NM_002470.4(MYH3):c.5796+17G>A	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967438	NM_002470.4(MYH3):c.5796+16G>T	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601146	NM_002470.4(MYH3):c.5796+12A>G	MYH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2800952	NM_002470.4(MYH3):c.5796+8G>A	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766166	NM_002470.4(MYH3):c.5796+8G>T	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007996	NM_002470.4(MYH3):c.5788T>A (p.Ser1930Thr)	MYH3 (S1930T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714460	NM_002470.4(MYH3):c.5787C>G (p.Thr1929=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853922	NM_002470.4(MYH3):c.5786C>T (p.Thr1929Ile)	MYH3 (T1929I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807010	NM_002470.4(MYH3):c.5777G>A (p.Arg1926Gln)	MYH3 (R1926Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2237422	NM_002470.4(MYH3):c.5774C>G (p.Thr1925Ser)	MYH3 (T1925S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2018605	NM_002470.4(MYH3):c.5770_5771del (p.Lys1924fs)	MYH3 (K1924fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2041654	NM_002470.4(MYH3):c.5767G>A (p.Ala1923Thr)	MYH3 (A1923T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414169	NM_002470.4(MYH3):c.5764C>T (p.Arg1922Cys)	MYH3 (R1922C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068229	NM_002470.4(MYH3):c.5763C>G (p.Leu1921=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980546	NM_002470.4(MYH3):c.5745A>G (p.Glu1915=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767246	NM_002470.4(MYH3):c.5742A>C (p.Ala1914=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980725	NM_002470.4(MYH3):c.5740G>A (p.Ala1914Thr)	MYH3 (A1914T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716579	NM_002470.4(MYH3):c.5738_5739delinsGT (p.Ile1913Ser)	MYH3 (I1913S)	Indel (missense variant)	not provided	GUncertain significance
Select item 727962	NM_002470.4(MYH3):c.5739C>T (p.Ile1913=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174283	NM_002470.4(MYH3):c.5735A>G (p.Asp1912Gly)	MYH3 (D1912G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912261	NM_002470.4(MYH3):c.5733G>A (p.Ala1911=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1721213	NM_002470.4(MYH3):c.5732C>T (p.Ala1911Val)	MYH3 (A1911V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2560240	NM_002470.4(MYH3):c.5722G>C (p.Glu1908Gln)	MYH3 (E1908Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2198560	NM_002470.4(MYH3):c.5722G>A (p.Glu1908Lys)	MYH3 (E1908K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059425	NM_002470.4(MYH3):c.5716G>A (p.Glu1906Lys)	MYH3 (E1906K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900298	NM_002470.4(MYH3):c.5709G>A (p.Glu1903=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827271	NM_002470.4(MYH3):c.5697G>A (p.Lys1899=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647480	NM_002470.4(MYH3):c.5695A>G (p.Lys1899Glu)	MYH3 (K1899E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988686	NM_002470.4(MYH3):c.5693G>A (p.Arg1898Gln)	MYH3 (R1898Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360675	NM_002470.4(MYH3):c.5692C>T (p.Arg1898Ter)	MYH3 (R1898*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1926315	NM_002470.4(MYH3):c.5690T>A (p.Phe1897Tyr)	MYH3 (F1897Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072412	NM_002470.4(MYH3):c.5677C>T (p.His1893Tyr)	MYH3 (H1893Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 321709	NM_002470.4(MYH3):c.5674G>A (p.Ala1892Thr)	MYH3 (A1892T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 321710	NM_002470.4(MYH3):c.5669C>G (p.Ala1890Gly)	MYH3 (A1890G)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 321711	NM_002470.4(MYH3):c.5660A>G (p.Asp1887Gly)	MYH3 (D1887G)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +2 more	GConflicting classifications of pathogenicity
Select item 2767268	NM_002470.4(MYH3):c.5659-8G>A	MYH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1968217	NM_002470.4(MYH3):c.5659-12C>T	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 208736	NM_002470.4(MYH3):c.5605_5659-47del	MYH3	Deletion (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 258699	NM_002470.4(MYH3):c.5658+49G>A	MYH3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2048678	NM_002470.4(MYH3):c.5658+18T>C	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880425	NM_002470.4(MYH3):c.5658+15T>G	MYH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2755186	NM_002470.4(MYH3):c.5658+9G>A	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 704992	NM_002470.4(MYH3):c.5658+8A>G	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1065366	NM_002470.4(MYH3):c.5658+3_5658+6del	MYH3	Deletion (splice donor variant)	MYH3-related disorder	GLikely pathogenic
Select item 2814651	NM_002470.4(MYH3):c.5658+5G>A	MYH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1987300	NM_002470.4(MYH3):c.5647_5648delinsTT (p.Ala1883Leu)	MYH3 (A1883L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1371435	NM_002470.4(MYH3):c.5620G>A (p.Val1874Met)	MYH3 (V1874M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1065447	NM_002470.4(MYH3):c.5618A>C (p.Gln1873Pro)	MYH3 (Q1873P)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	GUncertain significance
Select item 705833	NM_002470.4(MYH3):c.5613A>G (p.Lys1871=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082009	NM_002470.4(MYH3):c.5607G>A (p.Val1869=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 321712	NM_002470.4(MYH3):c.5607G>T (p.Val1869=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1616111	NM_002470.4(MYH3):c.5589G>C (p.Leu1863=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572717	NM_002470.4(MYH3):c.5587C>T (p.Leu1863=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954077	NM_002470.4(MYH3):c.5575A>C (p.Arg1859=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930536	NM_002470.4(MYH3):c.5571G>A (p.Glu1857=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1324755	NM_002470.4(MYH3):c.5563-1G>C	MYH3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1324757	NM_002470.4(MYH3):c.5563-2A>C	MYH3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2758351	NM_002470.4(MYH3):c.5563-19C>T	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663688	NM_002470.4(MYH3):c.5562+20C>A	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782066	NM_002470.4(MYH3):c.5562+12G>A	MYH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539324	NM_002470.4(MYH3):c.5562+11C>A	MYH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 321713	NM_002470.4(MYH3):c.5562+11C>T	MYH3	Single nucleotide variant (intron variant)	Freeman-Sheldon syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2903828	NM_002470.4(MYH3):c.5557T>C (p.Tyr1853His)	MYH3 (Y1853H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698379	NM_002470.4(MYH3):c.5555C>T (p.Thr1852Met)	MYH3 (T1852M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 772009	NM_002470.4(MYH3):c.5550G>A (p.Glu1850=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040397	NM_002470.4(MYH3):c.5536C>T (p.Arg1846Trp)	MYH3 (R1846W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2761078	NM_002470.4(MYH3):c.5531A>T (p.Tyr1844Phe)	MYH3 (Y1844F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709234	NM_002470.4(MYH3):c.5529G>T (p.Lys1843Asn)	MYH3 (K1843N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624096	NM_002470.4(MYH3):c.5528A>G (p.Lys1843Arg)	MYH3 (K1843R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979071	NM_002470.4(MYH3):c.5508_5509delinsCC (p.Glu1836_Ser1837delinsAspPro)	MYH3	Indel (missense variant)	not provided	GUncertain significance
Select item 2098388	NM_002470.4(MYH3):c.5504C>A (p.Thr1835Lys)	MYH3 (T1835K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991452	NM_002470.4(MYH3):c.5499G>A (p.Lys1833=)	MYH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1413895	NM_002470.4(MYH3):c.5494A>G (p.Lys1832Glu)	MYH3 (K1832E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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