4627[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 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 59058	GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3	APOL1, APOL2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 153170	GRCh38/hg38 22q12.3(chr22:36218250-36311777)x3	APOL1, APOL2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 59059	GRCh38/hg38 22q12.3(chr22:36246060-36313181)x3	APOL1, LOC126863137 +3 more	Copy number gain	See cases	GUncertain significance
Select item 369377	NM_002473.5(MYH9):c.*1399C>T	MYH9	Single nucleotide variant	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign
Select item 369378	NM_002473.5(MYH9):c.*1394C>T	MYH9	Single nucleotide variant	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign
Select item 899476	NM_002473.6(MYH9):c.*1330A>G	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 341458	NM_002473.6(MYH9):c.*1329C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GBenign/Likely benign
Select item 341459	NM_002473.6(MYH9):c.*1314C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GBenign
Select item 341460	NM_002473.6(MYH9):c.*1204A>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 341461	NM_002473.6(MYH9):c.*1193A>G	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 341462	NM_002473.6(MYH9):c.*1160del	MYH9	Deletion (3 prime UTR variant)	MYH9-related disorder +1 more	GBenign
Select item 341463	NM_002473.6(MYH9):c.*1099A>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 341464	NM_002473.6(MYH9):c.*1026C>G	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GUncertain significance
Select item 341465	NM_002473.6(MYH9):c.*978A>G	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GUncertain significance
Select item 341466	NM_002473.6(MYH9):c.*975A>G	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 341467	NM_002473.6(MYH9):c.*906G>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GBenign
Select item 341468	NM_002473.6(MYH9):c.*802T>G	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 341469	NM_002473.6(MYH9):c.*800T>C	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GBenign
Select item 341470	NM_002473.6(MYH9):c.*748A>G	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 341471	NM_002473.6(MYH9):c.*732C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GBenign
Select item 341472	NM_002473.6(MYH9):c.*686C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GBenign/Likely benign
Select item 341473	NM_002473.6(MYH9):c.*656T>C	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GUncertain significance
Select item 341474	NM_002473.6(MYH9):c.*645C>G	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 899543	NM_002473.6(MYH9):c.*639C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 341475	NM_002473.6(MYH9):c.*596G>A	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GBenign
Select item 1526371	NM_002473.6(MYH9):c.*589G>A	MYH9	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 341476	NM_002473.6(MYH9):c.*539G>A	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GUncertain significance
Select item 341477	NM_002473.6(MYH9):c.*474C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 341478	NM_002473.6(MYH9):c.*329C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GBenign/Likely benign
Select item 900679	NM_002473.6(MYH9):c.*325C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GBenign/Likely benign
Select item 341479	NM_002473.6(MYH9):c.*312C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GBenign
Select item 902362	NM_002473.6(MYH9):c.*273C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 341480	NM_002473.6(MYH9):c.*261G>C	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GBenign
Select item 902363	NM_002473.6(MYH9):c.*248C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 341481	NM_002473.6(MYH9):c.*243C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 341482	NM_002473.6(MYH9):c.*238G>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GBenign
Select item 341483	NM_002473.6(MYH9):c.*198dup	MYH9	Duplication (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 903228	NM_002473.6(MYH9):c.*195T>C	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GConflicting classifications of pathogenicity
Select item 341484	NM_002473.6(MYH9):c.*193C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 341485	NM_002473.6(MYH9):c.*137C>A	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GBenign
Select item 341486	NM_002473.6(MYH9):c.*136C>A	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GBenign
Select item 341487	NM_002473.6(MYH9):c.*107A>G	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GUncertain significance
Select item 341488	NM_002473.6(MYH9):c.*81C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GBenign/Likely benign
Select item 341489	NM_002473.6(MYH9):c.*74G>A	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GUncertain significance
Select item 900751	NM_002473.6(MYH9):c.*73C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 900752	NM_002473.6(MYH9):c.*13G>A	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 228922	NM_002473.6(MYH9):c.*8C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3030443	NM_002473.6(MYH9):c.*2C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related condition	GLikely benign
Select item 902430	NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys)	MYH9 (E1960K)	Single nucleotide variant (missense variant)	MYH9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 341490	NM_002473.6(MYH9):c.5877C>T (p.Ala1959=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GBenign/Likely benign
Select item 3050157	NM_002473.6(MYH9):c.5866G>T (p.Ala1956Ser)	MYH9 (A1956S)	Single nucleotide variant (missense variant)	MYH9-related condition	GUncertain significance
Select item 2433953	NM_002473.6(MYH9):c.5854G>C (p.Asp1952His)	MYH9 (D1952H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 504938	NM_002473.6(MYH9):c.5853G>A (p.Ala1951=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1304481	NM_002473.6(MYH9):c.5851G>A (p.Ala1951Thr)	MYH9 (A1951T)	Single nucleotide variant (missense variant)	MYH9-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1920685	NM_002473.6(MYH9):c.5842G>C (p.Asp1948His)	MYH9 (D1948H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1307714	NM_002473.6(MYH9):c.5833G>A (p.Glu1945Lys)	MYH9 (E1945K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227617	NM_002473.6(MYH9):c.5832C>T (p.Asp1944=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 871550	NM_002473.6(MYH9):c.5829C>T (p.Ser1943=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1275758	NM_002473.6(MYH9):c.5822del (p.Asp1941fs)	MYH9 (D1941fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 14080	NM_002473.6(MYH9):c.5821del (p.Asp1941fs)	MYH9 (D1941fs)	Deletion (frameshift variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GPathogenic
Select item 44573	NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg)	MYH9 (G1940R)	Single nucleotide variant (missense variant)	MYH9-related disorder +4 more	GBenign/Likely benign
Select item 258761	NM_002473.6(MYH9):c.5817C>T (p.Ala1939=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 178424	NM_002473.6(MYH9):c.5815G>A (p.Ala1939Thr)	MYH9 (A1939T)	Single nucleotide variant (missense variant)	MYH9-related condition +5 more	GBenign
Select item 1215129	NM_002473.6(MYH9):c.5814C>T (p.Gly1938=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 623104	NM_002473.6(MYH9):c.5808del (p.Gly1938fs)	MYH9 (G1938fs)	Deletion (frameshift variant)	MYH9-related disorder	GLikely pathogenic
Select item 1723053	NM_002473.6(MYH9):c.5807G>A (p.Arg1936Gln)	MYH9 (R1936Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 164412	NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp)	MYH9 (R1936W)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +3 more	GConflicting classifications of pathogenicity
Select item 1693407	NM_002473.6(MYH9):c.5805C>T (p.Ala1935=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 623111	NM_002473.6(MYH9):c.5800del (p.Met1934fs)	MYH9 (M1934fs)	Deletion (frameshift variant)	MYH9-related disorder	GLikely pathogenic
Select item 2631747	NM_002473.6(MYH9):c.5793_5797dup (p.Arg1933fs)	MYH9 (R1933fs)	Duplication (frameshift variant)	MYH9-related condition	GLikely pathogenic
Select item 2630176	NM_002473.6(MYH9):c.5796_5797dup (p.Arg1933fs)	MYH9 (R1933fs)	Duplication (frameshift variant)	MYH9-related condition	GLikely pathogenic
Select item 14072	NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)	MYH9 (R1933*)	Single nucleotide variant (nonsense)	MYH9-related disorder +2 more	GPathogenic
Select item 1699301	NM_002473.6(MYH9):c.5788G>T (p.Val1930Leu)	MYH9 (V1930L)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1200857	NM_002473.6(MYH9):c.5788G>A (p.Val1930Met)	MYH9 (V1930M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903289	NM_002473.6(MYH9):c.5787C>T (p.Val1929=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GConflicting classifications of pathogenicity
Select item 871829	NM_002473.6(MYH9):c.5785del (p.Val1929fs)	MYH9 (V1929fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2170164	NM_002473.6(MYH9):c.5781G>A (p.Pro1927=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 44572	NM_002473.6(MYH9):c.5781G>T (p.Pro1927=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +4 more	GBenign
Select item 623110	NM_002473.6(MYH9):c.5770_5779del (p.Gly1924fs)	MYH9 (G1924fs)	Deletion (frameshift variant)	MYH9-related disorder	GPathogenic
Select item 2087813	NM_002473.6(MYH9):c.5773G>A (p.Asp1925Asn)	MYH9 (D1925N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684410	NM_002473.6(MYH9):c.5773del (p.Asp1925fs)	MYH9 (D1925fs)	Deletion (frameshift variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GPathogenic
Select item 903290	NM_002473.6(MYH9):c.5769C>T (p.Arg1923=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GConflicting classifications of pathogenicity
Select item 2630222	NM_002473.6(MYH9):c.5767C>T (p.Arg1923Cys)	MYH9 (R1923C)	Single nucleotide variant (missense variant)	MYH9-related condition	GUncertain significance
Select item 666868	NM_002473.6(MYH9):c.5766-13_5766-2dup	MYH9	Duplication (splice acceptor variant)	not specified	GUncertain significance
Select item 44571	NM_002473.6(MYH9):c.5766-3del	MYH9	Deletion	MYH9-related disorder +4 more	GBenign
Select item 258760	NM_002473.6(MYH9):c.5766-5C>T	MYH9	Single nucleotide variant (intron variant)	MYH9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 164413	NM_002473.6(MYH9):c.5766-10C>T	MYH9	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1239899	NM_002473.6(MYH9):c.5766-227A>G	MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206833	NM_002473.6(MYH9):c.5765+211T>C	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3041696	NM_002473.6(MYH9):c.5765+34G>A	MYH9	Single nucleotide variant (intron variant)	MYH9-related condition	GLikely benign
Select item 3046544	NM_002473.6(MYH9):c.5765+29G>T	MYH9	Single nucleotide variant (intron variant)	MYH9-related condition	GLikely benign
Select item 1989326	NM_002473.6(MYH9):c.5765+20C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939509	NM_002473.6(MYH9):c.5765+15C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 341491	NM_002473.6(MYH9):c.5765+9C>T	MYH9	Single nucleotide variant (intron variant)	MYH9-related disorder +3 more	GBenign/Likely benign
Select item 2890483	NM_002473.6(MYH9):c.5765+8G>A	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517574	NM_002473.6(MYH9):c.5765+8G>T	MYH9	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign

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