ClinVar for MedGen (Select 322046) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336608	NM_001256317.3(TMPRSS3):c.383T>C (p.Met128Thr)	TMPRSS3 (M128T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3250472	NM_024009.3(GJB3):c.652del (p.Leu218fs)	GJB3 (L218fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 3237174	NM_001256317.3(TMPRSS3):c.782+5G>C	TMPRSS3	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 3066234	NM_001256317.3(TMPRSS3):c.446+41_446+44del	TMPRSS3	Microsatellite (intron variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 2692376	NM_001256317.3(TMPRSS3):c.297del (p.Asp100fs)	TMPRSS3 (D100fs)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 8	GLikely pathogenic
Select item 2499995	NM_001256317.3(TMPRSS3):c.620G>A (p.Cys207Tyr)	TMPRSS3 (C207Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 2445670	NM_001256317.3(TMPRSS3):c.188T>G (p.Leu63Arg)	TMPRSS3 (L63R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8	GLikely pathogenic
Select item 2445669	NM_001256317.3(TMPRSS3):c.818G>T (p.Gly273Val)	TMPRSS3 (G273V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8	GLikely pathogenic
Select item 2445668	NM_001256317.3(TMPRSS3):c.917C>T (p.Ala306Val)	TMPRSS3 (A306V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GLikely pathogenic
Select item 2445667	NM_001256317.3(TMPRSS3):c.1328T>C (p.Ile443Thr)	TMPRSS3 (I444T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8	GLikely pathogenic
Select item 2138389	NM_001256317.3(TMPRSS3):c.999del (p.Asp334fs)	TMPRSS3 (D334fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1705615	NM_001256317.3(TMPRSS3):c.771C>G (p.His257Gln)	TMPRSS3 (H130Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1705391	NM_001256317.3(TMPRSS3):c.133C>A (p.Pro45Thr)	TMPRSS3 (P45T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 1705358	NM_001256317.3(TMPRSS3):c.1192G>A (p.Gly398Arg)	TMPRSS3 (G272R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 1339581	NM_001256317.3(TMPRSS3):c.764C>T (p.Ala255Val)	TMPRSS3 (A128V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1335824	NM_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met)	TMPRSS3 (T121M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GPathogenic/Likely pathogenic
Select item 1210028	NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter)	TMPRSS3 (R16*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GPathogenic/Likely pathogenic
Select item 1185654	NM_001256317.3(TMPRSS3):c.147dup (p.Pro50fs)	TMPRSS3 (P50fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1175711	NM_001256317.3(TMPRSS3):c.749del (p.Leu250fs)	TMPRSS3 (L123fs +1 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 8	GPathogenic
Select item 1175710	NM_001256317.3(TMPRSS3):c.646C>T (p.Arg216Cys)	TMPRSS3 (R216C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1175709	NM_001256317.3(TMPRSS3):c.400A>T (p.Lys134Ter)	TMPRSS3 (K134* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GPathogenic
Select item 1164000	NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met)	TMPRSS3 (V199M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GConflicting classifications of pathogenicity
Select item 1032152	NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg)	TMPRSS3	Single nucleotide variant (stop lost)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 996724	NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg)	TMPRSS3 (C280R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GPathogenic
Select item 974621	NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln)	TMPRSS3 (H130Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8	GLikely pathogenic
Select item 898607	NM_001256317.3(TMPRSS3):c.161T>C (p.Ile54Thr)	TMPRSS3 (I54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 898536	NM_001256317.3(TMPRSS3):c.1048+5G>A	TMPRSS3	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 898535	NM_001256317.3(TMPRSS3):c.1077G>A (p.Ala359=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898465	NM_001256317.3(TMPRSS3):c.*492C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GUncertain significance
Select item 898464	NM_001256317.3(TMPRSS3):c.*493C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 898463	NM_001256317.3(TMPRSS3):c.*573C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 898462	NM_001256317.3(TMPRSS3):c.*664C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 897440	NM_001256317.3(TMPRSS3):c.213C>T (p.Phe71=)	TMPRSS3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897439	NM_001256317.3(TMPRSS3):c.372G>A (p.Ser124=)	TMPRSS3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GConflicting classifications of pathogenicity
Select item 897438	NM_001256317.3(TMPRSS3):c.411C>T (p.Tyr137=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897377	NM_001256317.3(TMPRSS3):c.1344+8C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897376	NM_001256317.3(TMPRSS3):c.1344+9G>A	TMPRSS3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897375	NM_001256317.3(TMPRSS3):c.*53G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897301	NM_001256317.3(TMPRSS3):c.*750C>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 897300	NM_001256317.3(TMPRSS3):c.*755G>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GUncertain significance
Select item 897299	NM_001256317.3(TMPRSS3):c.*777G>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 897298	NM_001256317.3(TMPRSS3):c.*782G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 897297	NM_001256317.3(TMPRSS3):c.*805T>C	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 896949	NM_001256317.3(TMPRSS3):c.450T>C (p.Tyr150=)	TMPRSS3	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 896948	NM_001256317.3(TMPRSS3):c.573-8C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896878	NM_001256317.3(TMPRSS3):c.*189T>C	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 895619	NM_001256317.3(TMPRSS3):c.-78T>A	TMPRSS3	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 895548	NM_001256317.3(TMPRSS3):c.856T>A (p.Leu286Met)	TMPRSS3 (L159M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 895547	NM_001256317.3(TMPRSS3):c.1004G>C (p.Gly335Ala)	TMPRSS3 (G208A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 895546	NM_001256317.3(TMPRSS3):c.1019C>T (p.Thr340Met)	TMPRSS3 (T213M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 895476	NM_001256317.3(TMPRSS3):c.*334G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 895475	NM_001256317.3(TMPRSS3):c.*411C>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 895474	NM_001256317.3(TMPRSS3):c.*429C>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 895473	NM_001256317.3(TMPRSS3):c.*476C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 873474	NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys)	TMPRSS3 (M383K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 828127	NM_001256317.3(TMPRSS3):c.1192-1G>C	TMPRSS3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 8	GPathogenic
Select item 810901	NM_001256317.3(TMPRSS3):c.231C>T (p.Tyr77=)	TMPRSS3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 736897	NM_001256317.3(TMPRSS3):c.1191+10C>T	TMPRSS3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 666988	NM_001256317.3(TMPRSS3):c.1303C>T (p.Arg435Cys)	TMPRSS3 (R435C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GConflicting classifications of pathogenicity
Select item 632380	NM_001256317.3(TMPRSS3):c.1235G>A (p.Trp412Ter)	TMPRSS3 (W413* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 627482	NM_001256317.3(TMPRSS3):c.1048+1G>A	TMPRSS3	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 8	GPathogenic
Select item 595601	NM_001256317.3(TMPRSS3):c.1266C>T (p.Ile422=)	TMPRSS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 562094	NM_001256317.3(TMPRSS3):c.783-1G>T	TMPRSS3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GPathogenic/Likely pathogenic
Select item 517148	NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs)	TMPRSS3 (C194fs +1 more)	Duplication (frameshift variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 504522	NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys)	TMPRSS3 (E104K)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GPathogenic/Likely pathogenic
Select item 501579	NM_001256317.3(TMPRSS3):c.1126G>A (p.Gly376Ser)	TMPRSS3 (G377S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 444576	NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp)	TMPRSS3 (R166W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GConflicting classifications of pathogenicity
Select item 440339	NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg)	TMPRSS3 (G94R)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 432009	NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)	TMPRSS3 (V116M)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GPathogenic/Likely pathogenic
Select item 402283	NM_001256317.3(TMPRSS3):c.582T>A (p.Cys194Ter)	TMPRSS3 (C194* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 8	GPathogenic
Select item 381714	NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)	TMPRSS3 (R106C)	Single nucleotide variant (missense variant +1 more)	Hearing impairment +3 more	GPathogenic/Likely pathogenic
Select item 340069	NM_024022.2(TMPRSS3):c.-198G>A	TMPRSS3	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 340067	NM_024022.2(TMPRSS3):c.-182G>A	TMPRSS3	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GUncertain significance
Select item 340066	NM_024022.2(TMPRSS3):c.-178A>C	TMPRSS3	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340065	NM_001256317.3(TMPRSS3):c.-131G>C	TMPRSS3	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GConflicting classifications of pathogenicity
Select item 340064	NM_001256317.3(TMPRSS3):c.-79A>G	TMPRSS3	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340063	NM_001256317.3(TMPRSS3):c.-51-12T>C	TMPRSS3	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340062	NM_001256317.3(TMPRSS3):c.-36G>C	TMPRSS3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 340061	NM_001256317.3(TMPRSS3):c.17C>T (p.Pro6Leu)	TMPRSS3 (P6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 340060	NM_001256317.3(TMPRSS3):c.681G>A (p.Gln227=)	TMPRSS3	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GConflicting classifications of pathogenicity
Select item 340059	NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His)	TMPRSS3 (Y239H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GConflicting classifications of pathogenicity
Select item 340057	NM_001256317.3(TMPRSS3):c.*81C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340056	NM_001256317.3(TMPRSS3):c.*177A>C	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340055	NM_001256317.3(TMPRSS3):c.*191T>C	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GLikely benign
Select item 340054	NM_001256317.3(TMPRSS3):c.*206A>G	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 340053	NM_001256317.3(TMPRSS3):c.*245C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340052	NM_001256317.3(TMPRSS3):c.*246G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GBenign/Likely benign
Select item 340051	NM_001256317.3(TMPRSS3):c.*287C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 340050	NM_001256317.3(TMPRSS3):c.*397C>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340049	NM_001256317.3(TMPRSS3):c.*402C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340048	NM_001256317.3(TMPRSS3):c.*407A>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340047	NM_001256317.3(TMPRSS3):c.*409C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GLikely benign
Select item 340046	NM_001256317.3(TMPRSS3):c.*477G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340045	NM_001256317.3(TMPRSS3):c.*539C>T	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340044	NM_001256317.3(TMPRSS3):c.*540G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340043	NM_001256317.3(TMPRSS3):c.*576G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340041	NM_001256317.3(TMPRSS3):c.*692G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 340040	NM_001256317.3(TMPRSS3):c.*815A>G	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GConflicting classifications of pathogenicity
Select item 229324	NM_001256317.3(TMPRSS3):c.1169C>T (p.Thr390Met)	TMPRSS3 (T391M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +3 more	GUncertain significance
Select item 225495	NM_001256317.3(TMPRSS3):c.212T>C (p.Phe71Ser)	TMPRSS3 (F71S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity

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