6942[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067848, LOC130067849 +687 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	CCDC134, CENPM +91 more	Copy number loss	See cases	GUncertain significance
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	LOC130067673, LOC130067674 +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	SERHL2, SHANK3 +541 more	Copy number gain	See cases	GPathogenic
Select item 1325604	NM_001378418.1(TCF20):c.*44+8G>A	TCF20	Single nucleotide variant (intron variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 3056920	NM_001378418.1(TCF20):c.*2G>T	TCF20	Single nucleotide variant (3 prime UTR variant +1 more)	TCF20-related condition	GLikely benign
Select item 2285352	NM_001378418.1(TCF20):c.5876G>A (p.Arg1959Gln)	TCF20 (R1959Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2187156	NM_001378418.1(TCF20):c.5857A>T (p.Ser1953Cys)	TCF20 (S1953C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2047021	NM_001378418.1(TCF20):c.5844G>A (p.Ala1948=)	TCF20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1987970	NM_001378418.1(TCF20):c.5843C>G (p.Ala1948Gly)	TCF20 (A1948G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2231125	NM_001378418.1(TCF20):c.5842G>T (p.Ala1948Ser)	TCF20 (A1948S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1948741	NM_001378418.1(TCF20):c.5842G>A (p.Ala1948Thr)	TCF20 (A1948T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2992759	NM_001378418.1(TCF20):c.5841C>G (p.Thr1947=)	TCF20	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1912471	NM_001378418.1(TCF20):c.5841C>T (p.Thr1947=)	TCF20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653244	NM_001378418.1(TCF20):c.5836A>G (p.Lys1946Glu)	TCF20 (K1946E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2788298	NM_001378418.1(TCF20):c.5826C>G (p.Pro1942=)	TCF20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2574818	NM_001378418.1(TCF20):c.5825_5826del (p.Pro1942fs)	TCF20 (P1942fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2071602	NM_001378418.1(TCF20):c.5825C>G (p.Pro1942Arg)	TCF20 (P1942R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1918733	NM_001378418.1(TCF20):c.5825C>T (p.Pro1942Leu)	TCF20 (P1942L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 725819	NM_001378418.1(TCF20):c.5825C>A (p.Pro1942His)	TCF20 (P1942H)	Single nucleotide variant (missense variant +1 more)	TCF20-related condition +1 more	GBenign
Select item 2072362	NM_001378418.1(TCF20):c.5824C>G (p.Pro1942Ala)	TCF20 (P1942A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2050454	NM_001378418.1(TCF20):c.5824C>T (p.Pro1942Ser)	TCF20 (P1942S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1711554	NM_001378418.1(TCF20):c.5824C>A (p.Pro1942Thr)	TCF20 (P1942T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2176640	NM_001378418.1(TCF20):c.5823C>G (p.Pro1941=)	TCF20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2544019	NM_001378418.1(TCF20):c.5818C>G (p.Leu1940Val)	TCF20 (L1940V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2045771	NM_001378418.1(TCF20):c.5810C>T (p.Pro1937Leu)	TCF20 (P1937L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1809892	NM_001378418.1(TCF20):c.5807T>C (p.Leu1936Pro)	TCF20 (L1936P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1919470	NM_001378418.1(TCF20):c.5800-7G>A	TCF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1624844	NM_001378418.1(TCF20):c.5800-8C>T	TCF20	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1658930	NM_001378418.1(TCF20):c.5799+18A>G	TCF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2764090	NM_001378418.1(TCF20):c.5799+16C>T	TCF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2417294	NM_001378418.1(TCF20):c.5767G>C (p.Glu1923Gln)	TCF20 (E1923Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 985351	NM_001378418.1(TCF20):c.5757G>T (p.Leu1919Phe)	TCF20 (L1919F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723412	NM_001378418.1(TCF20):c.5753G>C (p.Cys1918Ser)	TCF20 (C1918S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1723413	NM_001378418.1(TCF20):c.5750-14C>A	TCF20	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1928549	NM_001378418.1(TCF20):c.5749+19C>A	TCF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995513	NM_001378418.1(TCF20):c.5749+7_5749+8dup	TCF20	Duplication (intron variant)	not provided	GLikely benign
Select item 2978249	NM_001378418.1(TCF20):c.5733G>A (p.Pro1911=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041467	NM_001378418.1(TCF20):c.5732C>T (p.Pro1911Leu)	TCF20 (P1911L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 590780	NM_001378418.1(TCF20):c.5725C>T (p.His1909Tyr)	TCF20 (H1909Y)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GPathogenic
Select item 2955626	NM_001378418.1(TCF20):c.5720G>A (p.Arg1907Gln)	TCF20 (R1907Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986291	NM_001378418.1(TCF20):c.5719del (p.Arg1907fs)	TCF20 (R1907fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2807339	NM_001378418.1(TCF20):c.5712C>T (p.Cys1904=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2437008	NM_001378418.1(TCF20):c.5702A>G (p.Asn1901Ser)	TCF20 (N1901S)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2062625	NM_001378418.1(TCF20):c.5682C>T (p.Gly1894=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2710779	NM_001378418.1(TCF20):c.5677G>A (p.Ala1893Thr)	TCF20 (A1893T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2060404	NM_001378418.1(TCF20):c.5675A>C (p.Glu1892Ala)	TCF20 (E1892A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1677066	NM_001378418.1(TCF20):c.5666A>G (p.His1889Arg)	TCF20 (H1889R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1673153	NM_001378418.1(TCF20):c.5656-11C>T	TCF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	A4GALT, ARFGAP3 +303 more	Copy number gain	See cases	GPathogenic
Select item 2970821	NM_001378418.1(TCF20):c.5655+17T>G	TCF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987890	NM_001378418.1(TCF20):c.5655+16C>A	TCF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008040	NM_001378418.1(TCF20):c.5655+13A>C	TCF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896785	NM_001378418.1(TCF20):c.5655+13A>G	TCF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3049912	NM_001378418.1(TCF20):c.5655+10A>T	TCF20	Single nucleotide variant (intron variant)	TCF20-related condition	GLikely benign
Select item 1696276	NM_001378418.1(TCF20):c.5641dup (p.Ile1881fs)	TCF20 (I1881fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 2990456	NM_001378418.1(TCF20):c.5634G>A (p.Ala1878=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653245	NM_001378418.1(TCF20):c.5631A>G (p.Glu1877=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969281	NM_001378418.1(TCF20):c.5618A>G (p.Tyr1873Cys)	TCF20 (Y1873C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759238	NM_001378418.1(TCF20):c.5600del (p.Leu1867fs)	TCF20 (L1867fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2759222	NM_001378418.1(TCF20):c.5599del (p.Leu1867fs)	TCF20 (L1867fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1717654	NM_001378418.1(TCF20):c.5599C>G (p.Leu1867Val)	TCF20 (L1867V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742477	NM_001378418.1(TCF20):c.5593A>C (p.Ile1865Leu)	TCF20 (I1865L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919381	NM_001378418.1(TCF20):c.5588A>G (p.Asn1863Ser)	TCF20 (N1863S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144509	NM_001378418.1(TCF20):c.5586C>T (p.Ala1862=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339198	NM_001378418.1(TCF20):c.5583G>A (p.Trp1861Ter)	TCF20 (W1861*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 2744339	NM_001378418.1(TCF20):c.5575A>G (p.Ile1859Val)	TCF20 (I1859V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687294	NM_001378418.1(TCF20):c.5569_5570dup (p.Cys1858fs)	TCF20 (C1858fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 3026696	NM_001378418.1(TCF20):c.5570del (p.Gly1857fs)	TCF20 (G1857fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2990090	NM_001378418.1(TCF20):c.5568G>A (p.Glu1856=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1323680	NM_001378418.1(TCF20):c.5559G>A (p.Trp1853Ter)	TCF20 (W1853*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 2429892	NM_001378418.1(TCF20):c.5555T>G (p.Phe1852Cys)	TCF20 (F1852C)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 1696762	NM_001378418.1(TCF20):c.5549A>G (p.Asn1850Ser)	TCF20 (N1850S)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 2015156	NM_001378418.1(TCF20):c.5548A>C (p.Asn1850His)	TCF20 (N1850H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193381	NM_001378418.1(TCF20):c.5523A>C (p.Gln1841His)	TCF20 (Q1841H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926643	NM_001378418.1(TCF20):c.5505C>T (p.Gly1835=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421169	NM_001378418.1(TCF20):c.5491A>G (p.Thr1831Ala)	TCF20 (T1831A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3015403	NM_001378418.1(TCF20):c.5481C>T (p.Ser1827=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992249	NM_001378418.1(TCF20):c.5466G>A (p.Leu1822=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167968	NM_001378418.1(TCF20):c.5457G>A (p.Lys1819=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2921143	NM_001378418.1(TCF20):c.5451T>G (p.Ser1817Arg)	TCF20 (S1817R)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2049562	NM_001378418.1(TCF20):c.5450G>A (p.Ser1817Asn)	TCF20 (S1817N)	Single nucleotide variant (missense variant)	TCF20-related condition +1 more	GBenign
Select item 2345076	NM_001378418.1(TCF20):c.5446A>G (p.Ser1816Gly)	TCF20 (S1816G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2437020	NM_001378418.1(TCF20):c.5445C>T (p.Gly1815=)	TCF20	Single nucleotide variant (synonymous variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2183397	NM_001378418.1(TCF20):c.5442G>A (p.Glu1814=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2074940	NM_001378418.1(TCF20):c.5434G>A (p.Ala1812Thr)	TCF20 (A1812T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1958174	NM_001378418.1(TCF20):c.5412G>A (p.Arg1804=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879561	NM_001378418.1(TCF20):c.5407T>G (p.Ser1803Ala)	TCF20 (S1803A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2776282	NM_001378418.1(TCF20):c.5404C>G (p.Leu1802Val)	TCF20 (L1802V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437013	NM_001378418.1(TCF20):c.5402C>G (p.Ser1801Cys)	TCF20 (S1801C)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2229087	NM_001378418.1(TCF20):c.5395C>G (p.Pro1799Ala)	TCF20 (P1799A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2127650	NM_001378418.1(TCF20):c.5392G>C (p.Gly1798Arg)	TCF20 (G1798R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 978454	NM_001378418.1(TCF20):c.5387G>A (p.Gly1796Asp)	TCF20 (G1796D)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GUncertain significance
Select item 224102	NM_001378418.1(TCF20):c.5385_5386del (p.Cys1795fs)	TCF20 (C1795fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2576836	NM_001378418.1(TCF20):c.5384G>A (p.Cys1795Tyr)	TCF20 (C1795Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059414	NM_001378418.1(TCF20):c.5376G>A (p.Ser1792=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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