ClinVar for MedGen (Select 342839) - ClinVar

Links from MedGen

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255083	NM_001039141.3(TRIOBP):c.2758C>T (p.Arg920Ter)	TRIOBP (R920*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 3075686	NM_007118.4(TRIO):c.3319C>T (p.Gln1107Ter)	TRIO (Q1107*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 2690273	NM_001039141.3(TRIOBP):c.5519G>T (p.Arg1840Leu)	LOC126863145, TRIOBP (R127L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2663969	NM_001039141.3(TRIOBP):c.5849C>T (p.Pro1950Leu)	TRIOBP (P1950L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2627939	NM_007118.4(TRIO):c.652G>A (p.Val218Ile)	TRIO (V218I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2445673	NM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter)	TRIOBP (R861*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GPathogenic
Select item 2445672	NM_001039141.3(TRIOBP):c.1861C>T (p.Arg621Ter)	TRIOBP (R621*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 2445671	NM_001039141.3(TRIOBP):c.1783C>T (p.Arg595Ter)	TRIOBP (R595*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 2437318	NM_001039141.3(TRIOBP):c.2516C>G (p.Thr839Ser)	TRIOBP (T839S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2437317	NM_001039141.3(TRIOBP):c.706C>T (p.His236Tyr)	TRIOBP (H236Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2437316	NM_001039141.3(TRIOBP):c.2695C>G (p.Arg899Gly)	TRIOBP (R899G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2437315	NM_001039141.3(TRIOBP):c.4538C>T (p.Thr1513Met)	TRIOBP (T1513M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2437314	NM_001039141.3(TRIOBP):c.2293C>A (p.Gln765Lys)	TRIOBP (Q765K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 1657554	NM_001039141.3(TRIOBP):c.5688-13G>C	TRIOBP	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GLikely benign
Select item 1601530	NM_001039141.3(TRIOBP):c.6472+14_6472+15insC	TRIOBP	Insertion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1526202	NM_001039141.3(TRIOBP):c.1855del (p.Ala619fs)	TRIOBP (A619fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 1511999	NM_001039141.3(TRIOBP):c.5184+1G>A	TRIOBP	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1325235	NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter)	TRIOBP (R726*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 1325234	NM_001039141.3(TRIOBP):c.4280G>A (p.Trp1427Ter)	TRIOBP (W1427*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 1305695	NM_001039141.3(TRIOBP):c.2555A>T (p.Asp852Val)	TRIOBP (D852V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GUncertain significance
Select item 1301562	NM_001039141.3(TRIOBP):c.7073C>T (p.Ser2358Leu)	TRIOBP (S2358L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 1301561	NM_001039141.3(TRIOBP):c.5422A>G (p.Lys1808Glu)	LOC126863145, TRIOBP (K1808E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 1301560	NM_001039141.3(TRIOBP):c.1685C>G (p.Ser562Cys)	TRIOBP (S562C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 1301559	NM_001039141.3(TRIOBP):c.*3-4T>C	TRIOBP	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 28	GBenign
Select item 1254805	NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp)	TRIOBP (E1314D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1254535	NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln)	TRIOBP (R1221Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1227161	NM_001039141.3(TRIOBP):c.4063-21A>C	TRIOBP	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GBenign
Select item 1223857	NM_001039141.3(TRIOBP):c.4910C>G (p.Thr1637Ser)	TRIOBP (T1637S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GUncertain significance
Select item 1222322	NM_001039141.3(TRIOBP):c.6324+46C>G	TRIOBP	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GBenign
Select item 1185656	NM_001039141.3(TRIOBP):c.3672_3673del (p.Arg1225fs)	TRIOBP (R1225fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 1185086	NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter)	TRIOBP (R448*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 1174531	NM_001039141.3(TRIOBP):c.3214dup (p.Arg1072fs)	TRIOBP (R1072fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GPathogenic
Select item 1050176	NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp)	TRIOBP (R237W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1034398	NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser)	TRIOBP (A322S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GConflicting classifications of pathogenicity
Select item 1034397	NM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu)	TRIOBP (Q498L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1034396	NM_001039141.3(TRIOBP):c.4483G>T (p.Glu1495Ter)	TRIOBP (E1495*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 1034395	NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs)	TRIOBP (R1078fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1034394	NM_001039141.3(TRIOBP):c.3214C>G (p.Arg1072Gly)	TRIOBP (R1072G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1034393	NM_001039141.3(TRIOBP):c.1195C>G (p.Arg399Gly)	TRIOBP (R399G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 996725	NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs)	TRIOBP (L1154fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 930753	NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)	TRIOBP (R1025*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GPathogenic/Likely pathogenic
Select item 828103	NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro)	TRIOBP (R179P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 811604	NM_001039141.3(TRIOBP):c.3089C>G (p.Pro1030Arg)	TRIOBP (P1030R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 811578	NM_001039141.3(TRIOBP):c.2477C>T (p.Ser826Leu)	TRIOBP (S826L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 805686	NM_001039141.3(TRIOBP):c.6022C>T (p.Arg2008Trp)	TRIOBP (R2008W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GUncertain significance
Select item 739988	NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala)	TRIOBP (P1598A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 638335	NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del)	TRIOBP	Deletion (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GUncertain significance
Select item 627488	NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser)	TRIOBP (P276S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 627487	NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter)	TRIOBP (S44*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 627486	NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter)	TRIOBP (S1175*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 627485	NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter)	TRIOBP (E1431*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 626274	NM_001039141.3(TRIOBP):c.6548G>A (p.Gly2183Asp)	TRIOBP (G2183D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 626273	NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn)	TRIOBP (D52N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620162	NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter)	TRIOBP (Q645*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GPathogenic
Select item 562075	NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs)	TRIOBP (L1212fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GPathogenic/Likely pathogenic
Select item 547924	NM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys)	TRIOBP (R673K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GUncertain significance
Select item 523064	NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg)	TRIOBP (S688R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 516766	NM_001039141.3(TRIOBP):c.3559T>C (p.Phe1187Leu)	TRIOBP (F1187L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 508124	NM_001039141.3(TRIOBP):c.1478G>A (p.Ser493Asn)	TRIOBP (S493N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 508111	NM_001039141.3(TRIOBP):c.2589C>A (p.Asn863Lys)	TRIOBP (N863K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 508110	NM_001039141.3(TRIOBP):c.650G>A (p.Ser217Asn)	TRIOBP (S217N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 504691	NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)	TRIOBP (G1672*)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 504690	NM_001039141.3(TRIOBP):c.4932C>T (p.Pro1644=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 495111	NM_001039141.3(TRIOBP):c.3145_3146del (p.Glu1048_Ser1049insTer)	TRIOBP	Microsatellite (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 450619	NM_001039141.3(TRIOBP):c.1195C>T (p.Arg399Ter)	TRIOBP (R399*)	Single nucleotide variant (nonsense)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 449111	NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)	TRIO (R1078W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +5 more	GConflicting classifications of pathogenicity
Select item 402281	NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg)	TRIOBP (G1019R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 402280	NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter)	TRIOBP (Q483*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 290786	NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe)	TRIOBP (S734F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +2 more	GConflicting classifications of pathogenicity
Select item 287640	NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser)	TRIOBP (G212S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286831	NM_001039141.3(TRIOBP):c.3899A>G (p.His1300Arg)	TRIOBP (H1300R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +2 more	GBenign
Select item 286830	NM_001039141.3(TRIOBP):c.3885C>T (p.Ser1295=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 286759	NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu)	TRIOBP (Q717E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286671	NM_001039141.3(TRIOBP):c.6472+13_6472+14insT	TRIOBP	Insertion (intron variant)	Autosomal recessive nonsyndromic hearing loss 28 +2 more	GConflicting classifications of pathogenicity
Select item 285798	NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg)	TRIOBP (P428R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 257225	NM_001039141.3(TRIOBP):c.6472+19dup	TRIOBP	Duplication (intron variant)	not specified +2 more	GBenign
Select item 229368	NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln)	TRIOBP (R2172Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 229363	NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr)	TRIOBP (K1902T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 227126	NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu)	TRIOBP (D168E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 225500	NM_001039141.3(TRIOBP):c.6860G>A (p.Arg2287His)	TRIOBP (R2287H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 198447	NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del)	TRIOBP (Q398del)	Deletion (inframe_deletion)	not provided +2 more	GBenign
Select item 178554	NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)	TRIOBP (T195I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +2 more	GBenign/Likely benign
Select item 165612	NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=)	TRIOBP	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 28 +2 more	GBenign/Likely benign
Select item 165609	NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu)	TRIOBP (S2121L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 165587	NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)	TRIOBP (R1344Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 165582	NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala)	TRIOBP (P89A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 156028	NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)	TRIOBP (T272K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 43855	NM_001039141.3(TRIOBP):c.4129T>C (p.Trp1377Arg)	TRIOBP (W1377R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 43852	NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 43851	NM_001039141.3(TRIOBP):c.3975G>A (p.Gln1325=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 43848	NM_001039141.3(TRIOBP):c.-14C>G	TRIOBP	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 28 +2 more	GBenign
Select item 1496	NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs)	TRIOBP (D1069fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 1495	NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter)	TRIOBP (R1117*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1494	NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter)	TRIOBP (R1068*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 1493	NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter)	TRIOBP (R788*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 1492	NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter)	TRIOBP (Q297*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 1491	NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter)	TRIOBP (Q581*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic
Select item 1490	NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter)	TRIOBP (R347*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 98