ClinVar for MedGen (Select 370208) - ClinVar

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Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236793	NM_002906.4(RDX):c.134T>C (p.Phe45Ser)	RDX (F45S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 3061950	NM_002906.4(RDX):c.295C>T (p.Gln99Ter)	RDX (Q67* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 2585105	NM_002906.4(RDX):c.1076_1079del (p.Ile359fs)	RDX (I359fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 2428636	NM_002906.4(RDX):c.1501T>C (p.Ser501Pro)	RDX (S154P +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 1698704	NM_002906.4(RDX):c.1346del (p.Ala449fs)	RDX (A102fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GPathogenic
Select item 1334117	NM_002906.4(RDX):c.513_514del (p.Arg171fs)	RDX (R171fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 1333282	NM_002906.4(RDX):c.1135C>T (p.Arg379Ter)	RDX (R243* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 1325000	NM_002906.4(RDX):c.1141C>T (p.Arg381Ter)	RDX (R245* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 1270883	NM_002906.4(RDX):c.1587+38T>G	RDX	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 24 +1 more	GBenign
Select item 983525	NM_002906.4(RDX):c.129G>A (p.Trp43Ter)	RDX (W43*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GPathogenic
Select item 983524	NM_002906.4(RDX):c.-64-1215_12+348del	RDX	Deletion (splice acceptor variant +2 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 982441	NM_002906.4(RDX):c.1108C>T (p.Arg370Ter)	RDX (R23* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GPathogenic
Select item 880029	NM_002906.4(RDX):c.698+14T>C	RDX	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879969	NM_002906.4(RDX):c.*1201A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879968	NM_002906.4(RDX):c.*1215G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879967	NM_002906.4(RDX):c.*1264G>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879663	NM_002906.4(RDX):c.1251+14T>G	RDX	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879662	NM_002906.4(RDX):c.1495G>C (p.Glu499Gln)	RDX (E499Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879661	NM_002906.4(RDX):c.1547C>T (p.Thr516Ile)	RDX (T169I +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879612	NM_002906.4(RDX):c.*1358C>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879611	NM_002906.4(RDX):c.*1375G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely benign
Select item 879610	NM_002906.4(RDX):c.*1383G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879609	NM_002906.4(RDX):c.*1536T>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879608	NM_002906.4(RDX):c.*1632A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 879607	NM_002906.4(RDX):c.*1898A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878872	NM_002906.3(RDX):c.-291G>A	RDX	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878871	NM_002906.3(RDX):c.-285A>G	RDX	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878870	NM_002906.3(RDX):c.-272A>T	RDX	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878274	NM_002906.3(RDX):c.-270G>C	RDX	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878273	NM_002906.3(RDX):c.-240C>G	RDX	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878272	NM_002906.4(RDX):c.-133C>T	RDX	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878216	NM_002906.4(RDX):c.1577A>G (p.Lys526Arg)	RDX (K390R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878215	NM_002906.4(RDX):c.*302C>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878214	NM_002906.4(RDX):c.*414A>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878213	NM_002906.4(RDX):c.*474A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878149	NM_002906.4(RDX):c.*2070A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878148	NM_002906.4(RDX):c.*2085A>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878147	NM_002906.4(RDX):c.*2112A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 878146	NM_002906.4(RDX):c.*2253C>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 877233	NM_002906.4(RDX):c.-91G>A	RDX	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 877232	NM_002906.4(RDX):c.6G>A (p.Pro2=)	RDX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24 +2 more	GConflicting classifications of pathogenicity
Select item 877231	NM_002906.4(RDX):c.301C>T (p.Leu101Phe)	RDX (L69F +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 877178	NM_002906.4(RDX):c.*740C>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 877177	NM_002906.4(RDX):c.*762C>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 877176	NM_002906.4(RDX):c.*855T>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 877175	NM_002906.4(RDX):c.*1143G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 638047	NM_002906.4(RDX):c.551+2T>C	RDX	Single nucleotide variant (splice donor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GPathogenic
Select item 631649	NM_002906.4(RDX):c.573C>A (p.Tyr191Ter)	RDX (Y191* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 631648	NM_002906.4(RDX):c.910C>T (p.Gln304Ter)	RDX (Q304* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24 +1 more	GConflicting classifications of pathogenicity
Select item 501592	NM_002906.4(RDX):c.1345-7T>C	RDX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 302366	NM_002906.3(RDX):c.-309T>G	RDX	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302365	NM_002906.3(RDX):c.-305G>T	RDX	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302364	NM_002906.3(RDX):c.-297C>T	RDX	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302363	NM_002906.3(RDX):c.-290C>A	RDX	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302362	NM_002906.3(RDX):c.-221C>A	RDX	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302361	NM_002906.4(RDX):c.-179C>T	RDX	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302360	NM_002906.4(RDX):c.-169C>T	RDX	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302359	NM_002906.4(RDX):c.-149C>T	RDX	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302358	NM_002906.4(RDX):c.-105C>T	RDX	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 24	GLikely benign
Select item 302357	NM_002906.4(RDX):c.-76C>T	RDX	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302356	NM_002906.4(RDX):c.-65+12C>T	RDX	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302354	NM_002906.4(RDX):c.-64-6del	RDX	Deletion (intron variant)	Autosomal recessive nonsyndromic hearing loss 24 +2 more	GBenign/Likely benign
Select item 302351	NM_002906.4(RDX):c.507A>G (p.Glu169=)	RDX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302350	NM_002906.4(RDX):c.602A>G (p.Tyr201Cys)	RDX (Y201C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24 +1 more	GUncertain significance
Select item 302349	NM_002906.4(RDX):c.836G>T (p.Arg279Leu)	RDX (R279L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302348	NM_002906.4(RDX):c.1049G>A (p.Arg350His)	RDX (R350H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24 +1 more	GUncertain significance
Select item 302347	NM_002906.4(RDX):c.1162C>A (p.Arg388=)	RDX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302346	NM_002906.4(RDX):c.1188T>C (p.Ala396=)	RDX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302345	NM_002906.4(RDX):c.1195G>A (p.Ala399Thr)	RDX (A399T +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302344	NM_002906.4(RDX):c.1411C>G (p.Pro471Ala)	RDX (P471A +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24 +1 more	GUncertain significance
Select item 302343	NM_002906.4(RDX):c.1504A>G (p.Asn502Asp)	RDX (N502D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 302342	NM_002906.4(RDX):c.1530C>T (p.Ser510=)	RDX	Single nucleotide variant (synonymous variant +1 more)	RDX-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 302341	NM_002906.4(RDX):c.*79A>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24 +1 more	GUncertain significance
Select item 302340	NM_002906.4(RDX):c.*156A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302339	NM_002906.4(RDX):c.*429G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302338	NM_002906.4(RDX):c.*463A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302335	NM_002906.4(RDX):c.*800C>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302334	NM_002906.4(RDX):c.*885G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302332	NM_002906.4(RDX):c.*1058G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302331	NM_002906.4(RDX):c.*1083G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302330	NM_002906.4(RDX):c.*1173A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302327	NM_002906.4(RDX):c.*1251A>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302324	NM_002906.4(RDX):c.*1284G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302315	NM_002906.4(RDX):c.*1290A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302308	NM_002906.4(RDX):c.*1313G>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302306	NM_002906.4(RDX):c.*1368A>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302305	NM_002906.4(RDX):c.*1579A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302304	NM_002906.4(RDX):c.*1955A>G	RDX	Single nucleotide variant (intron variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302303	NM_002906.4(RDX):c.*1961G>A	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302302	NM_002906.4(RDX):c.*2006A>G	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 302301	NM_002906.4(RDX):c.*2057T>C	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 302300	NM_002906.4(RDX):c.*2423C>T	RDX	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 227900	NM_002906.4(RDX):c.471A>G (p.Val157=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 165054	NM_002906.4(RDX):c.354G>T (p.Pro118=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 44638	NM_002906.4(RDX):c.1487C>T (p.Ala496Val)	RDX (A496V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 44636	NM_002906.4(RDX):c.1059A>G (p.Gln353=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 13187	NM_002906.4(RDX):c.698+1G>A	RDX	Single nucleotide variant (splice donor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GPathogenic
Select item 13186	NM_002906.4(RDX):c.463C>T (p.Gln155Ter)	RDX (Q155* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GPathogenic
Select item 13185	NM_002906.4(RDX):c.1405dup (p.Ala469fs)	RDX (A333fs +2 more)	Duplication (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GPathogenic
Select item 13184	NM_002906.4(RDX):c.1732G>A (p.Asp578Asn)	RDX (D578N +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 24	GPathogenic

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Items: 100