4647[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 589171.	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 GRCh37: Chr11:71680927-77943941 GRCh38: Chr11:71969881-78232895	AAMDC, ACER3, ALG8, ANAPC15, AQP11, ARAP1, ARAP1-AS2, ARHGEF17, ARHGEF17-AS1, ARRB1, ATG16L2, B3GNT6, C2CD3, CAPN5, CHRDL2, CLNS1A, CLPB, COA4, DGAT2, DGAT2-DT, DNAJB13, EMSY, EMSY-DT, FAM168A, FCHSD2, FOLR1, FOLR2, FOLR3, GAB2, GDPD4, GDPD5, GVQW3, IL18BP, INPPL1, INTS4, KCNE3, KCTD14, KCTD21, KCTD21-AS1, KLHL35, LAMTOR1, LINC01537, LINC02757, LINC03030, LIPT2, LIPT2-AS1, LOC100128494, LOC105369391, LOC108281147, LOC110121365, LOC110121439, LOC111718492, LOC111822946, LOC112136082, LOC112136083, LOC112136088, LOC112136089, LOC112136090, LOC116216151, LOC116216152, LOC116216153, LOC116216154, LOC116216155, LOC116216156, LOC116216157, LOC116216158, LOC121392927, LOC121392928, LOC121392929, LOC121392930, LOC121392931, LOC121832799, LOC121832800, LOC121832801, LOC124500684, LOC124500685, LOC124500686, LOC124500687, LOC124500688, LOC124500689, LOC124500690, LOC124500691, LOC124500692, LOC124500693, LOC124500694, LOC124500695, LOC124500696, LOC124500697, LOC126861257, LOC126861258, LOC126861259, LOC126861260, LOC126861261, LOC126861262, LOC126861263, LOC126861264, LOC126861265, LOC126861266, LOC126861267, LOC126861268, LOC126861269, LOC126861270, LOC126861271, LRRC32, LRRC51, LRTOMT, MAP6, MIR139, MIR3165, MIR326, MIR4692, MIR4696, MIR548AL, MOGAT2, MRPL48, MYO7A, NDUFC2, NDUFC2-KCTD14, NEU3, NUMA1, OMP, OR2AT4, P2RY2, P2RY6, P4HA3, P4HA3-AS1, PAAF1, PAK1, PDE2A, PDE2A-AS1, PGM2L1, PHOX2A, PLEKHB1, POLD3, PPME1, RAB6A, RELT, RNF121, RNF169, RPS3, RSF1, RSF1-IT1, SERPINH1, SLCO2B1, SNORD15A, SNORD15B, SPCS2, STARD10, THAP12, THRSP, TOMT, TPBGL, TPBGL-AS1, TRP-AGG2-4, TRP-TGG2-1, TSKU, TSKU-AS1, UCP2, UCP3, USP35, UVRAG, UVRAG-DT, WNT11, XRRA1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1443562.	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 GRCh37: Chr11:75652798-98228688 GRCh38: Chr11:75941754-98357960	B3GNT6, C11orf54, C11orf97, CREBZF, GVQW3, HEPHL1, LINC02711, LINC02713, LOC111721716, LOC112136091, LOC112136093, LOC114827859, LOC116216156, LOC116216157, LOC116216158, LOC112136095, LOC112136096, LOC112136097, LOC116225292, LOC116225293, LOC116225294, LOC116225295, LOC116225296, LOC116225297, LOC116225298, LOC116225299, LINC02720, LINC02728, LINC02734, LINC02737, LINC02746, LOC101928896, LOC101929174, LOC107080646, LOC108281118, LINC02748, LINC02756, LINC02757, KDM4F, LINC02553, LINC02700, LINC03030, LNCRNA-IUR, LOC100129203, LOC110121365, LOC111591509, LOC112136088, LOC112136089, LOC112136090, HIKESHI, INTS4, DDIAS, DEUP1, DISC1FP1, FAT3, FOLH1B, FUT4, GRM5-AS1, JRKL-AS1, KCTD14, KCTD21, IZUMO1R, JRKL, KCTD21-AS1, CAPN5, CCDC81, CCDC82, CCDC83, CCDC90B-AS1, CEP295, CEP57, CCDC89, CCDC90B, CHORDC1, CLNS1A, KDM4D, KDM4E, CTSC, CWC15, FAM181B, FAM76B, AMOTL1, ANKRD42, ANKRD42-DT, ANKRD49, AQP11, AAMDC, ACER3, ALG8, DLG2, DLG2-AS2, EED, EMSY, EMSY-DT, ENDOD1, FZD4, FZD4-DT, GAB2, GDPD4, GPR83, GRM5, LOC116225300, LOC116225301, LOC121392931, LOC121392932, LOC121392933, LOC121392934, LOC121392935, LOC121832800, LOC121832801, LOC121832817, LOC121832818, LOC124500693, LOC124500694, LOC124500695, LOC124500696, LOC124500697, LOC124500698, LOC124500699, LOC124500702, LOC124500703, LOC124500704, LOC124500705, LOC124500706, LOC124500707, LOC124500708, LOC124500709, LOC124500710, LOC124500711, LOC124544574, LOC124544575, LOC124544577, LOC124544578, LOC124544579, LOC124544580, LOC124544581, LOC124544582, LOC124544583, LOC124625821, LOC124625822, LOC124625823, LOC126861269, LOC126861270, LOC126861271, LOC126861272, LOC126861273, LOC126861274, LOC126861275, LOC126861276, LOC126861277, LOC126861278, LOC126861279, LOC126861280, LOC126861281, LOC126861282, LOC126861283, LOC126861284, LOC126861285, LOC126861286, LOC126861287, LOC126861288, LOC126861289, LOC126861290, LOC126861291, LOC126861292, LOC126861293, LOC126861294, LOC126861295, LOC126861296, LOC126861297, LOC126861298, LOC126861299, LOC126861300, LOC126861301, LOC126861302, LOC126861303, LOC126861304, LOC126861305, LOC126861306, LOC126861307, LOC126861308, LOC126861309, LRRC32, MAML2, ME3, ME3-DT, MED17, MIR1260B, MIR1261, MIR1304, MIR3166, MIR4300, MIR4300HG, MIR4490, MIR548L, MIR5579, MIR6755, MIR708, MRE11, MTMR2, MTNR1B, MYO7A, NAALAD2, NARS2, NDUFC2, NDUFC2-KCTD14, NOX4, OMP, PAK1, PANX1, PCF11, PCF11-AS1, PICALM, PIWIL4, PIWIL4-AS1, PRCP, PRSS23, PRSS23-AS1, RAB30, RAB30-DT, RAB38, RSF1, RSF1-IT1, SCARNA9, SESN3, SLC36A4, SMCO4, SNORA1, SNORA18, SNORA25, SNORA32, SNORA40, SNORA70E, SNORA8, SNORD5, SNORD6, SRSF8, SYTL2, TAF1D, TENM4, THAP12, THRSP, TMEM126A, TMEM126B, TMEM135, TRIM49, TRIM49C, TRIM49D1, TRIM49D2, TRIM64, TRIM64B, TRIM77, TRP-AGG2-4, TRP-TGG2-1, TSKU, TSKU-AS1, TYR, UBTFL1, USP35, UVRAG, VSTM5, WNT11		See cases	Pathogenic (Dec 30, 2009)	no assertion criteria provided
Select item 1480033.	GRCh38/hg38 11q13.5(chr11:77104062-77324724)x1 GRCh37: Chr11:76900813-77035769 GRCh38: Chr11:77104062-77324724	CAPN5, GDPD4, MYO7A, PAK1		See cases	Uncertain significance (Dec 22, 2010)	no assertion criteria provided
Select item 3061464.	NM_000260.4(MYO7A):c.-211A>G GRCh37: Chr11:76839371 GRCh38: Chr11:77128325	MYO7A		Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 3061475.	NM_000260.4(MYO7A):c.-196C>T GRCh37: Chr11:76839386 GRCh38: Chr11:77128340	MYO7A		Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3061486.	NM_000260.4(MYO7A):c.-170C>T GRCh37: Chr11:76839412 GRCh38: Chr11:77128366	MYO7A		Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3061497.	NM_000260.4(MYO7A):c.-160G>A GRCh37: Chr11:76839422 GRCh38: Chr11:77128376	MYO7A		Nonsyndromic Hearing Loss, Dominant, Nonsyndromic Hearing Loss, Recessive, Retinitis pigmentosa-deafness syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3061508.	NM_000260.4(MYO7A):c.-154G>A GRCh37: Chr11:76839428 GRCh38: Chr11:77128382	MYO7A		Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 8840399.	NM_000260.4(MYO7A):c.-52C>G GRCh37: Chr11:76839530 GRCh38: Chr11:77128484	MYO7A		Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 121556810.	NM_000260.4(MYO7A):c.-46-2A>G GRCh37: Chr11:76841633 GRCh38: Chr11:77130587	MYO7A		not provided	Uncertain significance (Aug 17, 2020)	criteria provided, single submitter
Select item 30615111.	NM_000260.4(MYO7A):c.-20G>A GRCh37: Chr11:76841661 GRCh38: Chr11:77130615	MYO7A		Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 17956712.	NM_000260.4(MYO7A):c.1A>G (p.Met1Val) GRCh37: Chr11:76841681 GRCh38: Chr11:77130635	MYO7A	M1V	Rare genetic deafness, Usher syndrome type 1	Likely pathogenic (Dec 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55323113.	NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) GRCh37: Chr11:76841683 GRCh38: Chr11:77130637	MYO7A	M1I	not provided, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1, Meniere disease	Pathogenic/Likely pathogenic (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93610314.	NM_000260.4(MYO7A):c.13C>T (p.Gln5Ter) GRCh37: Chr11:76841693 GRCh38: Chr11:77130647	MYO7A	Q5*	not provided	Pathogenic (Sep 22, 2019)	criteria provided, single submitter
Select item 55837715.	NM_000260.4(MYO7A):c.18+2T>A GRCh37: Chr11:76841700 GRCh38: Chr11:77130654	MYO7A		Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1, not provided	Likely pathogenic (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67734016.	NM_000260.4(MYO7A):c.19-34G>A GRCh37: Chr11:76853721 GRCh38: Chr11:77142675	MYO7A		not provided	Likely benign (Jun 16, 2018)	criteria provided, single submitter
Select item 217806817.	NM_000260.4(MYO7A):c.19-17CT[3] GRCh37: Chr11:76853738-76853739 GRCh38: Chr11:77142692-77142693	MYO7A		not provided	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 158511818.	NM_000260.4(MYO7A):c.19-17C>T GRCh37: Chr11:76853738 GRCh38: Chr11:77142692	MYO7A		not provided	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 159139919.	NM_000260.4(MYO7A):c.19-13C>T GRCh37: Chr11:76853742 GRCh38: Chr11:77142696	MYO7A		not provided	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 99859320.	NM_000260.4(MYO7A):c.19-9C>A GRCh37: Chr11:76853746 GRCh38: Chr11:77142700	MYO7A		not provided	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 74888021.	NM_000260.4(MYO7A):c.19-9C>T GRCh37: Chr11:76853746 GRCh38: Chr11:77142700	MYO7A		Usher syndrome type 1, not provided, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 160409822.	NM_000260.4(MYO7A):c.19-8G>C GRCh37: Chr11:76853747 GRCh38: Chr11:77142701	MYO7A		not provided	Likely benign (Sep 21, 2021)	criteria provided, single submitter
Select item 110192023.	NM_000260.4(MYO7A):c.19-8G>T GRCh37: Chr11:76853747 GRCh38: Chr11:77142701	MYO7A		not provided	Likely benign (Mar 16, 2020)	criteria provided, single submitter
Select item 72859324.	NM_000260.4(MYO7A):c.19-8G>A GRCh37: Chr11:76853747 GRCh38: Chr11:77142701	MYO7A		not provided	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 114269625.	NM_000260.4(MYO7A):c.19-7C>T GRCh37: Chr11:76853748 GRCh38: Chr11:77142702	MYO7A		not provided	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 108630126.	NM_000260.4(MYO7A):c.19-5del GRCh37: Chr11:76853748 GRCh38: Chr11:77142702	MYO7A		not provided	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 163829327.	NM_000260.4(MYO7A):c.19-5C>T GRCh37: Chr11:76853750 GRCh38: Chr11:77142704	MYO7A		not provided	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 75149628.	NM_000260.4(MYO7A):c.19-4A>T GRCh37: Chr11:76853751 GRCh38: Chr11:77142705	MYO7A		not provided	Likely benign (Sep 6, 2018)	criteria provided, single submitter
Select item 96471829.	NM_000260.4(MYO7A):c.19-3T>C GRCh37: Chr11:76853752 GRCh38: Chr11:77142706	MYO7A		not provided	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 55866830.	NM_000260.4(MYO7A):c.19-2A>G GRCh37: Chr11:76853753 GRCh38: Chr11:77142707	MYO7A		Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1	Pathogenic (Jun 4, 2018)	criteria provided, single submitter
Select item 43817431.	NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs) GRCh37: Chr11:76853753-76853754 GRCh38: Chr11:77142707-77142708	MYO7A		Usher syndrome	Likely pathogenic (Jan 1, 2015)	no assertion criteria provided
Select item 4316332.	NM_000260.4(MYO7A):c.19-1G>A GRCh37: Chr11:76853754 GRCh38: Chr11:77142708	MYO7A		Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1, not provided	Likely pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 191654233.	NM_000260.4(MYO7A):c.19G>C (p.Gly7Arg) GRCh37: Chr11:76853755 GRCh38: Chr11:77142709	MYO7A	G7R	not provided	Pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 80270034.	NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) GRCh37: Chr11:76853755 GRCh38: Chr11:77142709	MYO7A	G7R	Nonsyndromic genetic hearing loss	Uncertain significance (Dec 24, 2020)	reviewed by expert panel FDA Recognized Database
Select item 56208435.	NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) GRCh37: Chr11:76853756 GRCh38: Chr11:77142710	MYO7A	G7V	not provided	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 24239336.	NM_000260.3(MYO7A):c.29T>C GRCh37: Chr11:76853765 GRCh38: Chr11:77142719	MYO7A	V10A	not provided, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1	Uncertain significance (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204382637.	NM_000260.4(MYO7A):c.30G>A (p.Val10=) GRCh37: Chr11:76853766 GRCh38: Chr11:77142720	MYO7A		not provided	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 98427438.	NM_000260.4(MYO7A):c.32G>A (p.Trp11Ter) GRCh37: Chr11:76853768 GRCh38: Chr11:77142722	MYO7A	W11*	Usher syndrome type 1	Likely pathogenic (Sep 11, 2019)	criteria provided, single submitter
Select item 98427539.	NM_000260.4(MYO7A):c.33G>A (p.Trp11Ter) GRCh37: Chr11:76853769 GRCh38: Chr11:77142723	MYO7A	W11*	Usher syndrome type 1	Likely pathogenic (Mar 21, 2019)	criteria provided, single submitter
Select item 141192540.	NM_000260.4(MYO7A):c.35T>C (p.Met12Thr) GRCh37: Chr11:76853771 GRCh38: Chr11:77142725	MYO7A	M12T, M1T	not provided	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 86296941.	NM_000260.4(MYO7A):c.37G>C (p.Asp13His) GRCh37: Chr11:76853773 GRCh38: Chr11:77142727	MYO7A	D2H, D13H	not provided	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 153296542.	NM_000260.4(MYO7A):c.39C>T (p.Asp13=) GRCh37: Chr11:76853775 GRCh38: Chr11:77142729	MYO7A		not provided	Likely benign (Nov 10, 2021)	criteria provided, single submitter
Select item 19624043.	NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) GRCh37: Chr11:76853775 GRCh38: Chr11:77142729	MYO7A	D13E, D2E	not provided	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 113847644.	NM_000260.4(MYO7A):c.42G>A (p.Leu14=) GRCh37: Chr11:76853778 GRCh38: Chr11:77142732	MYO7A		not provided	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 96568245.	NM_000260.4(MYO7A):c.44G>T (p.Arg15Ile) GRCh37: Chr11:76853780 GRCh38: Chr11:77142734	MYO7A	R15I, R4I	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 112534646.	NM_000260.4(MYO7A):c.46T>C (p.Leu16=) GRCh37: Chr11:76853782 GRCh38: Chr11:77142736	MYO7A		not provided	Likely benign (Aug 24, 2019)	criteria provided, single submitter
Select item 196458847.	NM_000260.4(MYO7A):c.47_48delinsCT (p.Leu16Ser) GRCh37: Chr11:76853783-76853784 GRCh38: Chr11:77142737-77142738	MYO7A	L5S, L16S	not provided	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 113906748.	NM_000260.4(MYO7A):c.47_48inv (p.Leu16Ser) GRCh37: Chr11:76853783-76853784 GRCh38: Chr11:77142737-77142738	MYO7A	L16S, L5S	not provided	Likely benign (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54997449.	NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) GRCh37: Chr11:76853783 GRCh38: Chr11:77142737	MYO7A	L16, L5	Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, not provided	Pathogenic/Likely pathogenic (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4325850.	NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) GRCh37: Chr11:76853783 GRCh38: Chr11:77142737	MYO7A	L16S, L5S	not specified, not provided, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50450551.	NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) GRCh37: Chr11:76853788 GRCh38: Chr11:77142742	MYO7A	Q18, Q7	not provided, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11	Pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 54618352.	NM_000260.4(MYO7A):c.54G>C (p.Gln18His) GRCh37: Chr11:76853790 GRCh38: Chr11:77142744	MYO7A	Q18H, Q7H	not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107369853.	NM_000260.4(MYO7A):c.55G>T (p.Glu19Ter) GRCh37: Chr11:76853791 GRCh38: Chr11:77142745	MYO7A	E19, E8	not provided	Pathogenic (Apr 5, 2020)	criteria provided, single submitter
Select item 114801254.	NM_000260.4(MYO7A):c.60C>T (p.Phe20=) GRCh37: Chr11:76853796 GRCh38: Chr11:77142750	MYO7A		not provided	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 84578955.	NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn) GRCh37: Chr11:76853797 GRCh38: Chr11:77142751	MYO7A	D10N, D21N	not provided	Conflicting interpretations of pathogenicity (Nov 8, 2022)	criteria provided, conflicting interpretations
Select item 108490256.	NM_000260.4(MYO7A):c.63C>T (p.Asp21=) GRCh37: Chr11:76853799 GRCh38: Chr11:77142753	MYO7A		not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 131291457.	NM_000260.4(MYO7A):c.64G>A (p.Val22Met) GRCh37: Chr11:76853800 GRCh38: Chr11:77142754	MYO7A	V11M, V22M	not provided, Inborn genetic diseases	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120021358.	NM_000260.4(MYO7A):c.64G>T (p.Val22Leu) GRCh37: Chr11:76853800 GRCh38: Chr11:77142754	MYO7A	V11L, V22L	not provided	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 110471159.	NM_000260.4(MYO7A):c.69C>T (p.Pro23=) GRCh37: Chr11:76853805 GRCh38: Chr11:77142759	MYO7A		not provided	Likely benign (Apr 27, 2021)	criteria provided, single submitter
Select item 145480360.	NM_000260.4(MYO7A):c.73_98dup (p.Gly34_Gln35insArgTrpTerGly) GRCh37: Chr11:76853806-76853807 GRCh38: Chr11:77142760-77142761	MYO7A		not provided	Pathogenic (May 31, 2022)	criteria provided, single submitter
Select item 4334161.	NM_000260.4(MYO7A):c.72C>T (p.Ile24=) GRCh37: Chr11:76853808 GRCh38: Chr11:77142762	MYO7A		not specified, not provided	Likely benign (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118081962.	NM_000260.4(MYO7A):c.75_82del (p.Ala26fs) GRCh37: Chr11:76853809-76853816 GRCh38: Chr11:77142763-77142770	MYO7A	A15fs, A26fs	Abnormality of the ear	Likely pathogenic (Jul 10, 2021)	criteria provided, single submitter
Select item 17772263.	NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) GRCh37: Chr11:76853809 GRCh38: Chr11:77142763	MYO7A	G25R, G14R	Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1, Retinal dystrophy, not provided	Pathogenic/Likely pathogenic (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76592964.	NM_000260.4(MYO7A):c.75G>C (p.Gly25=) GRCh37: Chr11:76853811 GRCh38: Chr11:77142765	MYO7A		not provided	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 219175665.	NM_000260.4(MYO7A):c.77C>T (p.Ala26Val) GRCh37: Chr11:76853813 GRCh38: Chr11:77142767	MYO7A	A15V, A26V	not provided	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 17773166.	NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu) GRCh37: Chr11:76853813 GRCh38: Chr11:77142767	MYO7A	A26E, A15E	Rare genetic deafness, not provided	Pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208838467.	NM_000260.4(MYO7A):c.78G>T (p.Ala26=) GRCh37: Chr11:76853814 GRCh38: Chr11:77142768	MYO7A		not provided	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 75153768.	NM_000260.4(MYO7A):c.78G>A (p.Ala26=) GRCh37: Chr11:76853814 GRCh38: Chr11:77142768	MYO7A		not provided	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 137415469.	NM_000260.4(MYO7A):c.80T>A (p.Val27Glu) GRCh37: Chr11:76853816 GRCh38: Chr11:77142770	MYO7A	V16E, V27E	not provided	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 156501770.	NM_000260.4(MYO7A):c.81G>A (p.Val27=) GRCh37: Chr11:76853817 GRCh38: Chr11:77142771	MYO7A		not provided	Likely benign (Aug 11, 2021)	criteria provided, single submitter
Select item 172424371.	NM_000260.4(MYO7A):c.83_84del (p.Val28fs) GRCh37: Chr11:76853818-76853819 GRCh38: Chr11:77142772-77142773	MYO7A	V17fs, V28fs	Usher syndrome type 1	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 207589472.	NM_000260.4(MYO7A):c.84G>A (p.Val28=) GRCh37: Chr11:76853820 GRCh38: Chr11:77142774	MYO7A		not provided	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 112491673.	NM_000260.4(MYO7A):c.87G>A (p.Lys29=) GRCh37: Chr11:76853823 GRCh38: Chr11:77142777	MYO7A		not provided	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 4334474.	NM_000260.4(MYO7A):c.93C>T (p.Cys31=) GRCh37: Chr11:76853829 GRCh38: Chr11:77142783	MYO7A		Usher syndrome type 1, not specified, not provided, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1185975.	NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) GRCh37: Chr11:76853829 GRCh38: Chr11:77142783	MYO7A	C31, C20	Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Rare genetic deafness, not provided	Pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 249095976.	NM_000260.4(MYO7A):c.94G>A (p.Asp32Asn) GRCh37: Chr11:76853830 GRCh38: Chr11:77142784	MYO7A	D21N, D32N	Inborn genetic diseases	Uncertain significance (Feb 28, 2023)	criteria provided, single submitter
Select item 196215777.	NM_000260.4(MYO7A):c.96C>T (p.Asp32=) GRCh37: Chr11:76853832 GRCh38: Chr11:77142786	MYO7A		not provided	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 94519378.	NM_000260.4(MYO7A):c.99_100del (p.Gly34fs) GRCh37: Chr11:76853835-76853836 GRCh38: Chr11:77142789-77142790	MYO7A	G34fs, G23fs	not provided	Pathogenic (Nov 2, 2022)	criteria provided, single submitter
Select item 79273479.	NM_000260.4(MYO7A):c.102G>A (p.Gly34=) GRCh37: Chr11:76853838 GRCh38: Chr11:77142792	MYO7A		not provided	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 98427680.	NM_000260.4(MYO7A):c.103C>T (p.Gln35Ter) GRCh37: Chr11:76853839 GRCh38: Chr11:77142793	MYO7A	Q24, Q35	Usher syndrome type 1	Likely pathogenic (Jan 6, 2020)	criteria provided, single submitter
Select item 98370981.	NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter) GRCh37: Chr11:76853845 GRCh38: Chr11:77142799	MYO7A	Q26, Q37	not provided, Usher syndrome type 1	Pathogenic/Likely pathogenic (Aug 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 147715282.	NM_000260.4(MYO7A):c.111G>C (p.Gln37His) GRCh37: Chr11:76853847 GRCh38: Chr11:77142801	MYO7A	Q26H, Q37H	not provided	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 109711483.	NM_000260.4(MYO7A):c.111G>A (p.Gln37=) GRCh37: Chr11:76853847 GRCh38: Chr11:77142801	MYO7A		not provided	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 202876784.	NM_000260.4(MYO7A):c.114G>C (p.Val38=) GRCh37: Chr11:76853850 GRCh38: Chr11:77142804	MYO7A		not provided	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 55681185.	NM_000260.4(MYO7A):c.117_132+6del GRCh37: Chr11:76853851-76853872 GRCh38: Chr11:77142805-77142826	MYO7A		Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2	Likely pathogenic (Feb 20, 2018)	criteria provided, single submitter
Select item 131077186.	NM_000260.4(MYO7A):c.119A>G (p.Asp40Gly) GRCh37: Chr11:76853855 GRCh38: Chr11:77142809	MYO7A	D29G, D40G	not provided	Uncertain significance (Dec 3, 2019)	criteria provided, single submitter
Select item 194344587.	NM_000260.4(MYO7A):c.121G>T (p.Asp41Tyr) GRCh37: Chr11:76853857 GRCh38: Chr11:77142811	MYO7A	D30Y, D41Y	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 116065088.	NM_000260.4(MYO7A):c.126A>G (p.Glu42=) GRCh37: Chr11:76853862 GRCh38: Chr11:77142816	MYO7A		not provided	Likely benign (Aug 6, 2020)	criteria provided, single submitter
Select item 161748589.	NM_000260.4(MYO7A):c.129C>T (p.Asp43=) GRCh37: Chr11:76853865 GRCh38: Chr11:77142819	MYO7A		not provided	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 144967090.	NM_000260.4(MYO7A):c.132T>C (p.Asn44=) GRCh37: Chr11:76853868 GRCh38: Chr11:77142822	MYO7A		not provided	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 4314091.	NM_000260.4(MYO7A):c.132+5G>A GRCh37: Chr11:76853873 GRCh38: Chr11:77142827	MYO7A		Rare genetic deafness, not provided	Conflicting interpretations of pathogenicity (Aug 28, 2022)	criteria provided, conflicting interpretations
Select item 99055892.	NM_000260.4(MYO7A):c.132+6T>C GRCh37: Chr11:76853874 GRCh38: Chr11:77142828	MYO7A		Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2, not provided	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115019893.	NM_000260.4(MYO7A):c.132+7A>C GRCh37: Chr11:76853875 GRCh38: Chr11:77142829	MYO7A		not provided	Likely benign (Feb 24, 2020)	criteria provided, single submitter
Select item 203191894.	NM_000260.4(MYO7A):c.132+8G>A GRCh37: Chr11:76853876 GRCh38: Chr11:77142830	MYO7A		not provided	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 165440295.	NM_000260.4(MYO7A):c.132+9T>A GRCh37: Chr11:76853877 GRCh38: Chr11:77142831	MYO7A		not provided	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 167186996.	NM_000260.4(MYO7A):c.132+10C>T GRCh37: Chr11:76853878 GRCh38: Chr11:77142832	MYO7A		not provided	Likely benign (Oct 19, 2021)	criteria provided, single submitter
Select item 108690497.	NM_000260.4(MYO7A):c.132+10C>G GRCh37: Chr11:76853878 GRCh38: Chr11:77142832	MYO7A		not provided	Likely benign (Sep 4, 2019)	criteria provided, single submitter
Select item 154100398.	NM_000260.4(MYO7A):c.132+19_132+24del GRCh37: Chr11:76853884-76853889 GRCh38: Chr11:77142838-77142843	MYO7A		not provided	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 123471499.	NM_000260.4(MYO7A):c.132+133C>G GRCh37: Chr11:76854001 GRCh38: Chr11:77142955	MYO7A		not provided	Benign (Jul 7, 2018)	criteria provided, single submitter
Select item 1288169100.	NM_000260.4(MYO7A):c.132+336C>T GRCh37: Chr11:76854204 GRCh38: Chr11:77143158	MYO7A		not provided	Benign (Jul 10, 2018)	criteria provided, single submitter

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