ClinVar for MedGen (Select 342839) - ClinVar

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Items: 93

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24456731.	NM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter) GRCh37: Chr22:38121144 GRCh38: Chr22:37725137	TRIOBP	R861*	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456722.	NM_001039141.3(TRIOBP):c.1861C>T (p.Arg621Ter) GRCh37: Chr22:38120424 GRCh38: Chr22:37724417	TRIOBP	R621*	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456713.	NM_001039141.3(TRIOBP):c.1783C>T (p.Arg595Ter) GRCh37: Chr22:38120346 GRCh38: Chr22:37724339	TRIOBP	R595*	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24373184.	NM_001039141.3(TRIOBP):c.2516C>G (p.Thr839Ser) GRCh37: Chr22:38121079 GRCh38: Chr22:37725072	TRIOBP	T839S	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Mar 26, 2020)	criteria provided, single submitter
Select item 24373175.	NM_001039141.3(TRIOBP):c.706C>T (p.His236Tyr) GRCh37: Chr22:38119269 GRCh38: Chr22:37723262	TRIOBP	H236Y	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Jan 21, 2021)	criteria provided, single submitter
Select item 24373166.	NM_001039141.3(TRIOBP):c.2695C>G (p.Arg899Gly) GRCh37: Chr22:38121258 GRCh38: Chr22:37725251	TRIOBP	R899G	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Nov 20, 2022)	criteria provided, single submitter
Select item 24373157.	NM_001039141.3(TRIOBP):c.4538C>T (p.Thr1513Met) GRCh37: Chr22:38130881 GRCh38: Chr22:37734874	TRIOBP	T1513M	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Jan 21, 2021)	criteria provided, single submitter
Select item 24373148.	NM_001039141.3(TRIOBP):c.2293C>A (p.Gln765Lys) GRCh37: Chr22:38120856 GRCh38: Chr22:37724849	TRIOBP	Q765K	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Nov 20, 2022)	criteria provided, single submitter
Select item 16575549.	NM_001039141.3(TRIOBP):c.5688-13G>C GRCh37: Chr22:38153607 GRCh38: Chr22:37757600	TRIOBP		not provided, Autosomal recessive nonsyndromic hearing loss 28	Likely benign (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160153010.	NM_001039141.3(TRIOBP):c.6472+14_6472+15insC GRCh37: Chr22:38161838-38161839 GRCh38: Chr22:37765831-37765832	TRIOBP		Autosomal recessive nonsyndromic hearing loss 28, not provided	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152620211.	NM_001039141.3(TRIOBP):c.1855del (p.Ala619fs) GRCh37: Chr22:38120418 GRCh38: Chr22:37724411	TRIOBP	A619fs	Autosomal recessive nonsyndromic hearing loss 28	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 132523512.	NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter) GRCh37: Chr22:38120739 GRCh38: Chr22:37724732	TRIOBP	R726*	Autosomal recessive nonsyndromic hearing loss 28	Likely pathogenic (Jul 6, 2021)	criteria provided, single submitter
Select item 132523413.	NM_001039141.3(TRIOBP):c.4280G>A (p.Trp1427Ter) GRCh37: Chr22:38130623 GRCh38: Chr22:37734616	TRIOBP	W1427*	Autosomal recessive nonsyndromic hearing loss 28	Likely pathogenic (Sep 23, 2020)	criteria provided, single submitter
Select item 131935514.	NM_001039141.3(TRIOBP):c.2144C>T (p.Thr715Ile) GRCh37: Chr22:38120707 GRCh38: Chr22:37724700	TRIOBP	T715I	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter
Select item 131935415.	NM_001039141.3(TRIOBP):c.6106C>G (p.Leu2036Val) GRCh37: Chr22:38154038 GRCh38: Chr22:37758031	TRIOBP	L2036V, L323V	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter
Select item 130569516.	NM_001039141.3(TRIOBP):c.2555A>T (p.Asp852Val) GRCh37: Chr22:38121118 GRCh38: Chr22:37725111	TRIOBP	D852V	Autosomal recessive nonsyndromic hearing loss 28, not provided	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130156217.	NM_001039141.3(TRIOBP):c.7073C>T (p.Ser2358Leu) GRCh37: Chr22:38168744 GRCh38: Chr22:37772737	TRIOBP	S2358L, S645L	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Nov 3, 2020)	criteria provided, single submitter
Select item 130156118.	NM_001039141.3(TRIOBP):c.5422A>G (p.Lys1808Glu) GRCh37: Chr22:38150926 GRCh38: Chr22:37754919	LOC126863145, TRIOBP	K1808E, K95E	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Oct 5, 2020)	criteria provided, single submitter
Select item 130156019.	NM_001039141.3(TRIOBP):c.1685C>G (p.Ser562Cys) GRCh37: Chr22:38120248 GRCh38: Chr22:37724241	TRIOBP	S562C	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Feb 11, 2020)	criteria provided, single submitter
Select item 130155920.	NM_001039141.3(TRIOBP):c.*3-4T>C GRCh37: Chr22:38169786 GRCh38: Chr22:37773779	TRIOBP		Autosomal recessive nonsyndromic hearing loss 28	Benign (Feb 11, 2020)	criteria provided, single submitter
Select item 125480521.	NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp) GRCh37: Chr22:38122505 GRCh38: Chr22:37726498	TRIOBP	E1314D	Autosomal recessive nonsyndromic hearing loss 28, not provided	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 125453522.	NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln) GRCh37: Chr22:38122225 GRCh38: Chr22:37726218	TRIOBP	R1221Q	Autosomal recessive nonsyndromic hearing loss 28, not provided	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 122716123.	NM_001039141.3(TRIOBP):c.4063-21A>C GRCh37: Chr22:38130385 GRCh38: Chr22:37734378	TRIOBP		Autosomal recessive nonsyndromic hearing loss 28, not provided	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 122385724.	NM_001039141.3(TRIOBP):c.4910C>G (p.Thr1637Ser) GRCh37: Chr22:38131253 GRCh38: Chr22:37735246	TRIOBP	T1637S	not provided, Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 122232225.	NM_001039141.3(TRIOBP):c.6324+46C>G GRCh37: Chr22:38155317 GRCh38: Chr22:37759310	TRIOBP		not provided, Autosomal recessive nonsyndromic hearing loss 28	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118565626.	NM_001039141.3(TRIOBP):c.3672_3673del (p.Arg1225fs) GRCh37: Chr22:38122233-38122234 GRCh38: Chr22:37726226-37726227	TRIOBP	R1225fs	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic	no assertion criteria provided
Select item 118508627.	NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter) GRCh37: Chr22:38119905 GRCh38: Chr22:37723898	TRIOBP	R448*	Autosomal recessive nonsyndromic hearing loss 28	Likely pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 117453128.	NM_001039141.3(TRIOBP):c.3214dup (p.Arg1072fs) GRCh37: Chr22:38121771-38121772 GRCh38: Chr22:37725764-37725765	TRIOBP	R1072fs	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Sep 3, 2020)	criteria provided, single submitter
Select item 105017629.	NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp) GRCh37: Chr22:38119272 GRCh38: Chr22:37723265	TRIOBP	R237W	not provided, Autosomal recessive nonsyndromic hearing loss 28	Conflicting interpretations of pathogenicity (Jul 13, 2022)	criteria provided, conflicting interpretations
Select item 103439830.	NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser) GRCh37: Chr22:38119527 GRCh38: Chr22:37723520	TRIOBP	A322S	Autosomal recessive nonsyndromic hearing loss 28, not provided	Conflicting interpretations of pathogenicity (Apr 22, 2022)	criteria provided, conflicting interpretations
Select item 103439731.	NM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu) GRCh37: Chr22:38165091 GRCh38: Chr22:37769084	TRIOBP	Q498L, Q2211L	Autosomal recessive nonsyndromic hearing loss 28, Inborn genetic diseases, not provided	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103439632.	NM_001039141.3(TRIOBP):c.4483G>T (p.Glu1495Ter) GRCh37: Chr22:38130826 GRCh38: Chr22:37734819	TRIOBP	E1495*	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Apr 2, 2018)	criteria provided, single submitter
Select item 103439533.	NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs) GRCh37: Chr22:38121788-38121789 GRCh38: Chr22:37725781-37725782	TRIOBP	R1078fs	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Jan 1, 2006)	no assertion criteria provided
Select item 103439434.	NM_001039141.3(TRIOBP):c.3214C>G (p.Arg1072Gly) GRCh37: Chr22:38121777 GRCh38: Chr22:37725770	TRIOBP	R1072G	not provided, Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103439335.	NM_001039141.3(TRIOBP):c.1195C>G (p.Arg399Gly) GRCh37: Chr22:38119758 GRCh38: Chr22:37723751	TRIOBP	R399G	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (May 8, 2018)	criteria provided, single submitter
Select item 99672536.	NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs) GRCh37: Chr22:38122019-38122020 GRCh38: Chr22:37726012-37726013	TRIOBP	L1154fs	Autosomal recessive nonsyndromic hearing loss 28, not provided	Pathogenic (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93075337.	NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) GRCh37: Chr22:38121636 GRCh38: Chr22:37725629	TRIOBP	R1025*	Autosomal recessive nonsyndromic hearing loss 28, not provided	Pathogenic/Likely pathogenic (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82810338.	NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro) GRCh37: Chr22:38111849 GRCh38: Chr22:37715842	TRIOBP	R179P	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Feb 5, 2020)	no assertion criteria provided
Select item 81160439.	NM_001039141.3(TRIOBP):c.3089C>G (p.Pro1030Arg) GRCh37: Chr22:38121652 GRCh38: Chr22:37725645	TRIOBP	P1030R	not provided, Autosomal recessive nonsyndromic hearing loss 28	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81157840.	NM_001039141.3(TRIOBP):c.2477C>T (p.Ser826Leu) GRCh37: Chr22:38121040 GRCh38: Chr22:37725033	TRIOBP	S826L	not provided, Autosomal recessive nonsyndromic hearing loss 28	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80568641.	NM_001039141.3(TRIOBP):c.6022C>T (p.Arg2008Trp) GRCh37: Chr22:38153954 GRCh38: Chr22:37757947	TRIOBP	R2008W, R295W	not provided, Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73998842.	NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala) GRCh37: Chr22:38131135 GRCh38: Chr22:37735128	TRIOBP	P1598A	not provided, Autosomal recessive nonsyndromic hearing loss 28	Conflicting interpretations of pathogenicity (Dec 19, 2021)	criteria provided, conflicting interpretations
Select item 63833543.	NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del) GRCh37: Chr22:38120605-38120676 GRCh38: Chr22:37724598-37724669	TRIOBP		not provided, Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62748844.	NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser) GRCh37: Chr22:38119389 GRCh38: Chr22:37723382	TRIOBP	P276S	Autosomal recessive nonsyndromic hearing loss 28	Likely pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 62748745.	NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter) GRCh37: Chr22:38106450 GRCh38: Chr22:37710443	TRIOBP	S44*	Autosomal recessive nonsyndromic hearing loss 28	Likely pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 62748646.	NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter) GRCh37: Chr22:38122087 GRCh38: Chr22:37726080	TRIOBP	S1175*	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 62748547.	NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter) GRCh37: Chr22:38130634 GRCh38: Chr22:37734627	TRIOBP	E1431*	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 62627448.	NM_001039141.3(TRIOBP):c.6548G>A (p.Gly2183Asp) GRCh37: Chr22:38164156 GRCh38: Chr22:37768149	TRIOBP	G2183D, G470D	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance	no assertion criteria provided
Select item 62627349.	NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn) GRCh37: Chr22:38106473 GRCh38: Chr22:37710466	TRIOBP	D52N	not provided	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 62016250.	NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter) GRCh37: Chr22:38120496 GRCh38: Chr22:37724489	TRIOBP	Q645*	not provided, Autosomal recessive nonsyndromic hearing loss 28	Pathogenic/Likely pathogenic (Apr 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56207551.	NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) GRCh37: Chr22:38122196-38122208 GRCh38: Chr22:37726189-37726201	TRIOBP	L1212fs	Hearing loss, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 28	Pathogenic/Likely pathogenic (Jul 5, 2018)	no assertion criteria provided
Select item 54792452.	NM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys) GRCh37: Chr22:38120581 GRCh38: Chr22:37724574	TRIOBP	R673K	not provided, Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52306453.	NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg) GRCh37: Chr22:38120627 GRCh38: Chr22:37724620	TRIOBP	S688R	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Dec 18, 2017)	criteria provided, single submitter
Select item 51676654.	NM_001039141.3(TRIOBP):c.3559T>C (p.Phe1187Leu) GRCh37: Chr22:38122122 GRCh38: Chr22:37726115	TRIOBP	F1187L	not provided, not specified, Autosomal recessive nonsyndromic hearing loss 28	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50812455.	NM_001039141.3(TRIOBP):c.1478G>A (p.Ser493Asn) GRCh37: Chr22:38120041 GRCh38: Chr22:37724034	TRIOBP	S493N	Autosomal recessive nonsyndromic hearing loss 28, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50811156.	NM_001039141.3(TRIOBP):c.2589C>A (p.Asn863Lys) GRCh37: Chr22:38121152 GRCh38: Chr22:37725145	TRIOBP	N863K	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 28	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50811057.	NM_001039141.3(TRIOBP):c.650G>A (p.Ser217Asn) GRCh37: Chr22:38119213 GRCh38: Chr22:37723206	TRIOBP	S217N	Autosomal recessive nonsyndromic hearing loss 28, not provided, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50469158.	NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) GRCh37: Chr22:38131357 GRCh38: Chr22:37735350	TRIOBP	G1672*	not specified, Hearing impairment, not provided, Autosomal recessive nonsyndromic hearing loss 28	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 50469059.	NM_001039141.3(TRIOBP):c.4932C>T (p.Pro1644=) GRCh37: Chr22:38131275 GRCh38: Chr22:37735268	TRIOBP		not provided, not specified, Autosomal recessive nonsyndromic hearing loss 28	Likely benign (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49511160.	NM_001039141.3(TRIOBP):c.3145_3146del (p.Glu1048_Ser1049insTer) GRCh37: Chr22:38121705-38121706 GRCh38: Chr22:37725698-37725699	TRIOBP		Autosomal recessive nonsyndromic hearing loss 28	Likely pathogenic (Dec 9, 2016)	criteria provided, single submitter
Select item 44911161.	NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp) GRCh37: Chr5:14374353 GRCh38: Chr5:14374244	TRIO	R1078W	not provided, Intellectual disability, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 28	Conflicting interpretations of pathogenicity (Jan 25, 2023)	criteria provided, conflicting interpretations
Select item 40228162.	NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg) GRCh37: Chr22:38121618 GRCh38: Chr22:37725611	TRIOBP	G1019R	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Jun 4, 2016)	no assertion criteria provided
Select item 40228063.	NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter) GRCh37: Chr22:38120010 GRCh38: Chr22:37724003	TRIOBP	Q483*	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Jun 4, 2016)	no assertion criteria provided
Select item 29078664.	NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) GRCh37: Chr22:38120764 GRCh38: Chr22:37724757	TRIOBP	S734F	not provided, Autosomal recessive nonsyndromic hearing loss 28	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 28764065.	NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser) GRCh37: Chr22:38119197 GRCh38: Chr22:37723190	TRIOBP	G212S	Autosomal recessive nonsyndromic hearing loss 28, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 28683166.	NM_001039141.3(TRIOBP):c.3899A>G (p.His1300Arg) GRCh37: Chr22:38122462 GRCh38: Chr22:37726455	TRIOBP	H1300R	not provided, Autosomal recessive nonsyndromic hearing loss 28, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28683067.	NM_001039141.3(TRIOBP):c.3885C>T (p.Ser1295=) GRCh37: Chr22:38122448 GRCh38: Chr22:37726441	TRIOBP		not provided, not specified, Autosomal recessive nonsyndromic hearing loss 28	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28675968.	NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) GRCh37: Chr22:38120712 GRCh38: Chr22:37724705	TRIOBP	Q717E	Autosomal recessive nonsyndromic hearing loss 28, not provided	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 28667169.	NM_001039141.3(TRIOBP):c.6472+13_6472+14insT GRCh37: Chr22:38161837-38161838 GRCh38: Chr22:37765830-37765831	TRIOBP		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 28	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 28579870.	NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg) GRCh37: Chr22:38119846 GRCh38: Chr22:37723839	TRIOBP	P428R	Autosomal recessive nonsyndromic hearing loss 28, not provided	Conflicting interpretations of pathogenicity (Jun 9, 2022)	criteria provided, conflicting interpretations
Select item 25722571.	NM_001039141.3(TRIOBP):c.6472+19dup GRCh37: Chr22:38161835-38161836 GRCh38: Chr22:37765828-37765829	TRIOBP		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 28	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22936872.	NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln) GRCh37: Chr22:38164123 GRCh38: Chr22:37768116	TRIOBP	R2172Q, R459Q	Autosomal recessive nonsyndromic hearing loss 28, not specified, not provided	Conflicting interpretations of pathogenicity (Aug 30, 2022)	criteria provided, conflicting interpretations
Select item 22936373.	NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr) GRCh37: Chr22:38153637 GRCh38: Chr22:37757630	TRIOBP	K1902T, K189T	not provided, not specified, Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22712674.	NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu) GRCh37: Chr22:38111817 GRCh38: Chr22:37715810	TRIOBP	D168E	not provided, not specified, Autosomal recessive nonsyndromic hearing loss 28	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22550075.	NM_001039141.3(TRIOBP):c.6860G>A (p.Arg2287His) GRCh37: Chr22:38167667 GRCh38: Chr22:37771660	TRIOBP	R2287H, R574H	Autosomal recessive nonsyndromic hearing loss 28	Uncertain significance (Mar 18, 2016)	criteria provided, single submitter
Select item 19844776.	NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del) GRCh37: Chr22:38119755-38119757 GRCh38: Chr22:37723748-37723750	TRIOBP	Q398del	not specified, Autosomal recessive nonsyndromic hearing loss 28, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17855477.	NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) GRCh37: Chr22:38111897 GRCh38: Chr22:37715890	TRIOBP	T195I	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 28	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 16561278.	NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=) GRCh37: Chr22:38165274 GRCh38: Chr22:37769267	TRIOBP		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 28	Benign/Likely benign (Jul 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16560979.	NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) GRCh37: Chr22:38161714 GRCh38: Chr22:37765707	TRIOBP	S2121L, S408L	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 28	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 16558780.	NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) GRCh37: Chr22:38129388 GRCh38: Chr22:37733381	TRIOBP	R1344Q	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 28	Benign/Likely benign (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16558281.	NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) GRCh37: Chr22:38109227 GRCh38: Chr22:37713220	TRIOBP	P89A	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 28	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15602882.	NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) GRCh37: Chr22:38119378 GRCh38: Chr22:37723371	TRIOBP	T272K	not provided, Autosomal recessive nonsyndromic hearing loss 28	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 4385583.	NM_001039141.3(TRIOBP):c.4129T>C (p.Trp1377Arg) GRCh37: Chr22:38130472 GRCh38: Chr22:37734465	TRIOBP	W1377R	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 28	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4385284.	NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=) GRCh37: Chr22:38130420 GRCh38: Chr22:37734413	TRIOBP		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 28	Benign/Likely benign (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4385185.	NM_001039141.3(TRIOBP):c.3975G>A (p.Gln1325=) GRCh37: Chr22:38129332 GRCh38: Chr22:37733325	TRIOBP		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 28	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4384886.	NM_001039141.3(TRIOBP):c.-14C>G GRCh37: Chr22:38097359 GRCh38: Chr22:37701352	TRIOBP		not specified, Autosomal recessive nonsyndromic hearing loss 28	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149687.	NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs) GRCh37: Chr22:38121765-38121766 GRCh38: Chr22:37725758-37725759	TRIOBP	D1069fs	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Jan 1, 2006)	no assertion criteria provided
Select item 149588.	NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) GRCh37: Chr22:38121912 GRCh38: Chr22:37725905	TRIOBP	R1117*	not provided, Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149489.	NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter) GRCh37: Chr22:38121765 GRCh38: Chr22:37725758	TRIOBP	R1068*	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Jan 1, 2006)	no assertion criteria provided
Select item 149390.	NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter) GRCh37: Chr22:38120925 GRCh38: Chr22:37724918	TRIOBP	R788*	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Jan 1, 2006)	no assertion criteria provided
Select item 149291.	NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter) GRCh37: Chr22:38119452 GRCh38: Chr22:37723445	TRIOBP	Q297*	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Jan 1, 2006)	no assertion criteria provided
Select item 149192.	NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter) GRCh37: Chr22:38120304 GRCh38: Chr22:37724297	TRIOBP	Q581*	Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Jan 1, 2006)	no assertion criteria provided
Select item 149093.	NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) GRCh37: Chr22:38119602 GRCh38: Chr22:37723595	TRIOBP	R347*	not provided, Autosomal recessive nonsyndromic hearing loss 28	Pathogenic (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 93