ClinVar for MedGen (Select 339636) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336675	NM_144672.4(OTOA):c.1822dup (p.Trp608fs)	OTOA (W284fs +2 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 22	GLikely pathogenic
Select item 3248558	NM_144672.4(OTOA):c.267+5G>A	OTOA	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 22	GUncertain significance
Select item 3234054	NM_144672.4(OTOA):c.1472A>C (p.Gln491Pro)	OTOA (Q167P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22	GUncertain significance
Select item 3068366	NM_144672.4(OTOA):c.1290_1292del (p.Ile430_Leu431delinsMet)	OTOA	Deletion (inframe_indel)	Autosomal recessive nonsyndromic hearing loss 22	GUncertain significance
Select item 3064760	NM_144672.4(OTOA):c.764C>G (p.Ala255Gly)	OTOA (A176G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22	GUncertain significance
Select item 2892999	NM_144672.4(OTOA):c.806C>A (p.Ser269Ter)	OTOA (S190* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 22 +2 more	GPathogenic/Likely pathogenic
Select item 2637815	NC_000016.9:g.(?_21675288)_(21772051_?)del	OTOA	Deletion	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
Select item 2445654	NM_144672.4(OTOA):c.2991A>C (p.Glu997Asp)	OTOA (E997D +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22	GLikely pathogenic
Select item 2445653	NM_144672.4(OTOA):c.875A>G (p.Lys292Arg)	OTOA (K292R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22	GLikely pathogenic
Select item 1803697	NM_144672.4(OTOA):c.3292C>T (p.Gln1098Ter)	OTOA (Q1019* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
Select item 1803696	NM_144672.4(OTOA):c.1537del (p.Ala513fs)	OTOA (A189fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
Select item 1800457	NC_000016.10:g.(?_21624041)_(21730798_?)del	IGSF6, LOC130058625 +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
Select item 1799551	NM_144672.4(OTOA):c.562_569dup (p.Phe191fs)	OTOA (F191fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1708204	NM_144672.4(OTOA):c.2352del (p.Thr785fs)	OTOA (T461fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 22	GLikely pathogenic
Select item 1708203	NM_144672.4(OTOA):c.1049T>C (p.Leu350Pro)	OTOA (L26P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22	GUncertain significance
Select item 1705476	NM_144672.4(OTOA):c.1633_1634del (p.Leu545fs)	OTOA (L221fs +2 more)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 22 +1 more	GPathogenic/Likely pathogenic
Select item 1679333	NM_144672.4(OTOA):c.1792C>G (p.Leu598Val)	OTOA (L274V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22	GUncertain significance
Select item 1462794	NM_144672.4(OTOA):c.1265G>T (p.Gly422Val)	OTOA (G422V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1423152	NM_144672.4(OTOA):c.1440G>T (p.Gln480His)	OTOA (Q156H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1324832	NM_144672.4(OTOA):c.1881-2A>G	OTOA	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 22	GLikely pathogenic
Select item 1264621	NM_144672.4(OTOA):c.3056-23C>T	OTOA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1252813	NM_144672.4(OTOA):c.*47A>G	OTOA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1237936	NM_144672.4(OTOA):c.2302-26C>T	OTOA	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 22 +1 more	GBenign
Select item 1218655	NM_144672.4(OTOA):c.121-20G>A	OTOA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1185646	NM_144672.4(OTOA):c.774A>C (p.Leu258Phe)	OTOA (L179F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22	GUncertain significance
Select item 1185118	NC_000016.10:g.21730837_21730930del	OTOA	Deletion	Autosomal recessive nonsyndromic hearing loss 22	GLikely pathogenic
Select item 1185107	NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs)	OTOA (F197fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
Select item 1175706	NC_000016.9:g.(?_21623965)_(21730823_21968737)del	METTL9, UQCRC2 +3 more	Deletion	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
Select item 1029163	NM_144672.4(OTOA):c.268-677G>A	OTOA	Single nucleotide variant (intron variant +1 more)	Autosomal recessive nonsyndromic hearing loss 22	GUncertain significance
Select item 1029162	NM_144672.4(OTOA):c.1912C>T (p.Gln638Ter)	OTOA (Q559* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 22	GLikely pathogenic
Select item 869479	NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu)	OTOA (G657E +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22 +1 more	GConflicting classifications of pathogenicity
Select item 684616	NM_144672.4(OTOA):c.1765del (p.Gln589fs)	OTOA (Q265fs +2 more)	Deletion (frameshift variant)	Rare genetic deafness +2 more	GPathogenic
Select item 682739	NM_144672.4(OTOA):c.179+27G>A	OTOA	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 22 +1 more	GBenign
Select item 677071	NM_144672.4(OTOA):c.1105-17G>A	OTOA	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 22 +1 more	GBenign/Likely benign
Select item 638328	NM_144672.4(OTOA):c.1820C>T (p.Ala607Val)	OTOA (A607V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 638049	NM_144672.4(OTOA):c.3188C>G (p.Pro1063Arg)	OTOA (P1063R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22	GUncertain significance
Select item 634633	NM_144672.4(OTOA):c.1831T>C (p.Trp611Arg)	OTOA (W611R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22	GUncertain significance
Select item 626214	NM_144672.4(OTOA):c.2301+1G>T	OTOA	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 22	GLikely pathogenic
Select item 623202	NM_144672.4(OTOA):c.2295del (p.Thr766fs)	OTOA (T687fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 22	GLikely pathogenic
Select item 402269	NM_144672.4(OTOA):c.1025A>T (p.Asp342Val)	OTOA (D342V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
Select item 402235	NM_144672.4(OTOA):c.828del (p.Ser277fs)	OTOA (S198fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 229069	NM_144672.4(OTOA):c.96G>T (p.Leu32Phe)	OTOA (L32F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22 +2 more	GUncertain significance
Select item 218841	NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)	OTOA (E787* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 22 +2 more	GConflicting classifications of pathogenicity
Select item 218840	NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro)	OTOA (T785P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22 +1 more	GConflicting classifications of pathogenicity
Select item 179001	NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu)	OTOA (S391L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22 +2 more	GConflicting classifications of pathogenicity
Select item 178499	NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)	OTOA (V508A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 164827	NM_144672.4(OTOA):c.2229C>T (p.Ala743=)	OTOA	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 22 +2 more	GBenign
Select item 100655	NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser)	OTOA (P627S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 100654	NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp)	OTOA (G451D +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 47953	NM_144672.4(OTOA):c.2238G>A (p.Thr746=)	OTOA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 47952	NM_144672.4(OTOA):c.1630-5C>T	OTOA	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 22 +2 more	GBenign
Select item 3561	NC_000016.8:g.(21419562_?)_(?_21746863)del	OTOA	Deletion	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
Select item 3560	NM_144672.4(OTOA):c.1320+2T>C	OTOA	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 22 +1 more	GPathogenic

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Items: 53