"GeneDx"[submitter] AND "MYH9"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59059	GRCh38/hg38 22q12.3(chr22:36246060-36313181)x3	APOL1, LOC126863137 +3 more	Copy number gain	See cases	GUncertain significance
Select item 341471	NM_002473.6(MYH9):c.*732C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GBenign
Select item 341472	NM_002473.6(MYH9):c.*686C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GBenign/Likely benign
Select item 341475	NM_002473.6(MYH9):c.*596G>A	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +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 341479	NM_002473.6(MYH9):c.*312C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 341480	NM_002473.6(MYH9):c.*261G>C	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GBenign
Select item 341481	NM_002473.6(MYH9):c.*243C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GBenign/Likely benign
Select item 341482	NM_002473.6(MYH9):c.*238G>T	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GBenign
Select item 341485	NM_002473.6(MYH9):c.*137C>A	MYH9	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 341486	NM_002473.6(MYH9):c.*136C>A	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GBenign
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 228922	NM_002473.6(MYH9):c.*8C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 902430	NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys)	MYH9 (E1960K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 341490	NM_002473.6(MYH9):c.5877C>T (p.Ala1959=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1304481	NM_002473.6(MYH9):c.5851G>A (p.Ala1951Thr)	MYH9 (A1951T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 44573	NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg)	MYH9 (G1940R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 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)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GBenign/Likely benign
Select item 1215129	NM_002473.6(MYH9):c.5814C>T (p.Gly1938=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	not specified +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 14072	NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)	MYH9 (R1933*)	Single nucleotide variant (nonsense)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GPathogenic
Select item 1200857	NM_002473.6(MYH9):c.5788G>A (p.Val1930Met)	MYH9 (V1930M)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 44572	NM_002473.6(MYH9):c.5781G>T (p.Pro1927=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GBenign
Select item 44571	NM_002473.6(MYH9):c.5766-3del	MYH9	Deletion	Nonsyndromic Hearing Loss, Dominant +4 more	GBenign
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 1220156	NM_002473.6(MYH9):c.5742C>T (p.Val1914=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 258758	NM_002473.6(MYH9):c.5709C>T (p.Ala1903=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GBenign/Likely benign
Select item 1192912	NM_002473.6(MYH9):c.5593-4G>A	MYH9	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GLikely benign
Select item 717105	NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val)	MYH9 (L1848V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GConflicting classifications of pathogenicity
Select item 14073	NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)	MYH9 (E1841K)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1313432	NM_002473.6(MYH9):c.5513G>A (p.Arg1838His)	MYH9 (R1838H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306748	NM_002473.6(MYH9):c.5489_5490delinsTT (p.Arg1830Leu)	MYH9 (R1830L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1225120	NM_002473.6(MYH9):c.5484-157G>A	MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227892	NM_002473.6(MYH9):c.5484-216G>A	MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276096	NM_002473.6(MYH9):c.5484-268G>C	MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199848	NM_002473.6(MYH9):c.5484-295A>G	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287869	NM_002473.6(MYH9):c.5483+292C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 44570	NM_002473.6(MYH9):c.5483+4C>G	MYH9	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 2575569	NM_002473.6(MYH9):c.5470G>A (p.Asp1824Asn)	MYH9 (D1824N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 341494	NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg)	MYH9 (L1819R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GConflicting classifications of pathogenicity
Select item 3377996	NM_002473.6(MYH9):c.5446A>G (p.Ile1816Val)	MYH9 (I1816V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450149	NM_002473.6(MYH9):c.5431G>A (p.Ala1811Thr)	MYH9 (A1811T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 902509	NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)	MYH9 (K1793R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GConflicting classifications of pathogenicity
Select item 1312946	NM_002473.6(MYH9):c.5363A>G (p.Lys1788Arg)	MYH9 (K1788R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2571917	NM_002473.6(MYH9):c.5339G>A (p.Arg1780Gln)	MYH9 (R1780Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666863	NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp)	MYH9 (R1780W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44569	NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu)	MYH9 (K1775E)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GLikely benign
Select item 1305825	NM_002473.6(MYH9):c.5309G>T (p.Arg1770Leu)	MYH9 (R1770L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258755	NM_002473.6(MYH9):c.5277C>T (p.Ile1759=)	MYH9	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 179621	NM_002473.6(MYH9):c.5275-10del	MYH9	Deletion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1198048	NM_002473.6(MYH9):c.5204A>C (p.Glu1735Ala)	MYH9 (E1735A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 164417	NM_002473.6(MYH9):c.5188C>T (p.Arg1730Cys)	MYH9 (R1730C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 499790	NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser)	MYH9 (A1729S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GConflicting classifications of pathogenicity
Select item 226752	NM_002473.6(MYH9):c.5181G>A (p.Leu1727=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1710655	NM_002473.6(MYH9):c.5179C>A (p.Leu1727Met)	MYH9 (L1727M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571876	NM_002473.6(MYH9):c.5174_5175delinsAA (p.Arg1725Gln)	MYH9 (R1725Q)	Indel (missense variant)	not provided	GUncertain significance
Select item 44568	NM_002473.6(MYH9):c.5151-4G>A	MYH9	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 178425	NM_002473.6(MYH9):c.5143G>A (p.Gly1715Ser)	MYH9 (G1715S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GBenign/Likely benign
Select item 1201764	NM_002473.6(MYH9):c.5118G>A (p.Leu1706=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 179392	NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp)	MYH9 (R1703W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 599087	NM_002473.6(MYH9):c.5081G>A (p.Arg1694His)	MYH9 (R1694H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281012	NM_002473.6(MYH9):c.5061+58G>A	MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236568	NM_002473.6(MYH9):c.5061+57C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258751	NM_002473.6(MYH9):c.5061+30C>T	MYH9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 178427	NM_002473.6(MYH9):c.5049C>A (p.Ile1683=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 164421	NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)	MYH9 (K1676E)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GConflicting classifications of pathogenicity
Select item 178428	NM_002473.6(MYH9):c.5010G>A (p.Glu1670=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GBenign/Likely benign
Select item 546158	NM_002473.6(MYH9):c.4963G>A (p.Asp1655Asn)	MYH9 (D1655N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178429	NM_002473.6(MYH9):c.4956C>T (p.Arg1652=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 44567	NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr)	MYH9 (M1651T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +4 more	GBenign/Likely benign
Select item 1288550	NM_002473.6(MYH9):c.4932+206A>G	MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202341	NM_002473.6(MYH9):c.4932+198A>C	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809975	NM_002473.6(MYH9):c.4922G>T (p.Arg1641Leu)	MYH9 (R1641L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 900909	NM_002473.6(MYH9):c.4902C>T (p.Asp1634=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 44566	NM_002473.6(MYH9):c.4899G>A (p.Arg1633=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1348422	NM_002473.6(MYH9):c.4883C>T (p.Ser1628Leu)	MYH9 (S1628L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 178431	NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 38967	NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val)	MYH9 (I1626V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +4 more	GBenign
Select item 44565	NM_002473.6(MYH9):c.4872G>T (p.Ala1624=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GBenign
Select item 290063	NM_002473.6(MYH9):c.4818G>A (p.Ser1606=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GConflicting classifications of pathogenicity
Select item 903427	NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu)	MYH9 (S1606L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GConflicting classifications of pathogenicity
Select item 1312724	NM_002473.6(MYH9):c.4792C>A (p.Leu1598Met)	MYH9 (L1598M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326512	NM_002473.6(MYH9):c.4771G>C (p.Val1591Leu)	MYH9 (V1591L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289879	NM_002473.6(MYH9):c.4771-108G>A	MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260947	NM_002473.6(MYH9):c.4770+106C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286334	NM_002473.6(MYH9):c.4770+51C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691804	NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln)	MYH9 (K1585Q)	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1304394	NM_002473.6(MYH9):c.4741G>A (p.Glu1581Lys)	MYH9 (E1581K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 164426	NM_002473.6(MYH9):c.4727G>A (p.Arg1576Gln)	MYH9 (R1576Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GBenign/Likely benign
Select item 420169	NM_002473.6(MYH9):c.4679T>G (p.Val1560Gly)	MYH9 (V1560G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 227613	NM_002473.6(MYH9):c.4653C>T (p.Thr1551=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 546149	NM_002473.6(MYH9):c.4639G>C (p.Glu1547Gln)	MYH9 (E1547Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502521	NM_002473.6(MYH9):c.4637A>G (p.Asp1546Gly)	MYH9 (D1546G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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