C0266589[trait identifier] AND "Kariminejad - Najmabadi Pathology & Ge - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559439	NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter)	CDC14A (R345* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 235145	NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter)	CDC14A (R376* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 32 +1 more	GPathogenic/Likely pathogenic
Select item 1178328	NM_006996.3(SLC19A2):c.697C>T (p.Gln233Ter)	SLC19A2 (Q233*)	Single nucleotide variant (nonsense +1 more)	Ear malformation +1 more	GPathogenic
Select item 1180599	NM_206933.4(USH2A):c.13792C>T (p.Gln4598Ter)	USH2A (Q4598*)	Single nucleotide variant (nonsense)	Ear malformation	GPathogenic
Select item 1180824	NM_206933.4(USH2A):c.9945C>A (p.Tyr3315Ter)	USH2A (Y3315*)	Single nucleotide variant (nonsense)	Ear malformation	GLikely pathogenic
Select item 560525	NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)	USH2A (Q2501*)	Single nucleotide variant (nonsense)	Ear malformation +2 more	GPathogenic
Select item 1180604	NM_206933.4(USH2A):c.2944dup (p.Cys982fs)	USH2A, USH2A-AS1 (C982fs)	Duplication (frameshift variant)	Ear malformation	GPathogenic
Select item 2356	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A (C759F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 497414	NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)	USH2A (R626*)	Single nucleotide variant (nonsense)	Retinal dystrophy +5 more	GPathogenic
Select item 1180825	NM_194248.3(OTOF):c.3570+2T>C	OTOF	Single nucleotide variant (splice donor variant)	Ear malformation	GLikely pathogenic
Select item 1180669	NM_194248.3(OTOF):c.1981dup (p.Asp661fs)	OTOF (D661fs)	Duplication (frameshift variant)	Ear malformation	GPathogenic
Select item 1297	NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp)	PJVK (R183W +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 59 +2 more	GPathogenic
Select item 1180704	NM_147196.3(TMIE):c.349G>T (p.Glu117Ter)	TMIE (E117* +1 more)	Single nucleotide variant (nonsense)	Ear malformation	GLikely pathogenic
Select item 14276	NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)	MITF (R214* +9 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 2A +5 more	GPathogenic
Select item 1198	NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)	MARVELD2 (R500* +1 more)	Single nucleotide variant (nonsense)	Ear malformation +3 more	GPathogenic/Likely pathogenic
Select item 1064951	NM_032119.4(ADGRV1):c.1477C>T (p.Arg493Ter)	ADGRV1 (R493*)	Single nucleotide variant (nonsense +1 more)	Ear malformation +2 more	GPathogenic/Likely pathogenic
Select item 497724	NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	COL11A2 (T323fs)	Duplication (frameshift variant +1 more)	Short long bone +8 more	GPathogenic/Likely pathogenic
Select item 1696	NM_182548.4(LHFPL5):c.649+1del	LHFPL5	Deletion (splice donor variant)	Ear malformation	GLikely pathogenic
Select item 1180657	NM_004999.4(MYO6):c.1473+1G>A	MYO6	Single nucleotide variant (splice donor variant)	Ear malformation	GLikely pathogenic
Select item 1180820	NM_000441.2(SLC26A4):c.882_883del (p.His294fs)	SLC26A4 (H294fs)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GLikely pathogenic
Select item 1180697	NM_000441.2(SLC26A4):c.965dup (p.Asn322fs)	SLC26A4 (N322fs)	Duplication (frameshift variant)	Ear malformation +1 more	GPathogenic/Likely pathogenic
Select item 43496	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4 (R409H)	Single nucleotide variant (missense variant)	Pendred syndrome +5 more	GPathogenic/Likely pathogenic
Select item 504715	NM_138691.3(TMC1):c.236+1G>A	TMC1	Single nucleotide variant (splice donor variant)	not provided +5 more	GPathogenic
Select item 1180831	NM_001128228.3(TPRN):c.225_235dup (p.Leu79fs)	TPRN (L79fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1180781	NM_001384140.1(PCDH15):c.4208_4209del (p.Lys1403fs)	PCDH15 (K1332fs +5 more)	Deletion (frameshift variant +1 more)	Ear malformation	GLikely pathogenic
Select item 1180655	NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly)	CDH23 (E956G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GLikely pathogenic
Select item 1180596	NM_022124.6(CDH23):c.3492del (p.Leu1166fs)	C10orf105, CDH23 (L1166fs)	Deletion (frameshift variant +1 more)	Ear malformation	GLikely pathogenic
Select item 1180612	NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)	CDH23 (N1521S)	Single nucleotide variant (missense variant)	Ear malformation +3 more	GPathogenic/Likely pathogenic
Select item 1180747	NM_022124.6(CDH23):c.5908G>A (p.Glu1970Lys)	CDH23 (E1970K)	Single nucleotide variant (missense variant)	Ear malformation	GLikely pathogenic
Select item 694649	NM_001195263.2(PDZD7):c.1088G>A (p.Trp363Ter)	PDZD7 (W363*)	Single nucleotide variant (nonsense)	Ear malformation	GLikely pathogenic
Select item 52974	NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)	KCNQ1 (F296fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype +9 more	GPathogenic/Likely pathogenic
Select item 1180819	NM_000260.4(MYO7A):c.75_82del (p.Ala26fs)	MYO7A (A15fs +1 more)	Deletion (frameshift variant)	Ear malformation	GLikely pathogenic
Select item 43143	NM_000260.4(MYO7A):c.1344-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness +5 more	GPathogenic
Select item 802705	NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)	MYO7A (R559* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 964372	NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp)	MYO7A (R1240W +1 more)	Single nucleotide variant (missense variant)	Ear malformation +2 more	GPathogenic/Likely pathogenic
Select item 658273	NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter)	MYO7A (R1690* +2 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 1180739	NM_000260.4(MYO7A):c.5567del (p.Arg1856fs)	MYO7A (R1807fs +2 more)	Deletion (frameshift variant)	Ear malformation	GPathogenic
Select item 1180609	NM_000260.4(MYO7A):c.6028G>T (p.Asp2010Tyr)	MYO7A (D1961Y +2 more)	Single nucleotide variant (missense variant)	Ear malformation	GLikely pathogenic
Select item 1180658	NM_005422.4(TECTA):c.710C>T (p.Thr237Ile)	TBCEL-TECTA, TECTA (T237I +1 more)	Single nucleotide variant (missense variant)	Ear malformation	GLikely pathogenic
Select item 694646	NM_001145026.2(PTPRQ):c.6327+1G>A	PTPRQ	Single nucleotide variant (splice donor variant)	Ear malformation +1 more	GLikely pathogenic
Select item 1180826	NM_001145026.2(PTPRQ):c.6775del (p.Leu2259fs)	PTPRQ (L2259fs)	Deletion (frameshift variant)	Ear malformation	GLikely pathogenic
Select item 189070	NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	GJB2 (A171fs)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 3A +10 more	GPathogenic/Likely pathogenic
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	Rare genetic deafness +14 more	GPathogenic/Likely pathogenic
Select item 1180677	NM_016239.4(MYO15A):c.3867-1G>A	MYO15A	Single nucleotide variant (splice acceptor variant)	Ear malformation	GLikely pathogenic
Select item 1180802	NM_016239.4(MYO15A):c.3956C>G (p.Ser1319Cys)	MYO15A (S1319C)	Single nucleotide variant (missense variant)	Ear malformation	GLikely pathogenic
Select item 1180637	NM_016239.4(MYO15A):c.4142+1G>T	MYO15A	Single nucleotide variant (splice donor variant)	Ear malformation	GPathogenic
Select item 1180676	NM_016239.4(MYO15A):c.5810G>A (p.Arg1937His)	MYO15A (R1937H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1180762	NM_016239.4(MYO15A):c.6436C>T (p.Arg2146Trp)	MYO15A (R2146W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1180761	NM_016239.4(MYO15A):c.9355A>T (p.Lys3119Ter)	MYO15A (K3119*)	Single nucleotide variant (nonsense)	Ear malformation	GPathogenic
Select item 1180770	NM_001039213.4(CEACAM16):c.459C>A (p.Cys153Ter)	CEACAM16, CEACAM16-AS1 (C153*)	Single nucleotide variant (nonsense)	Ear malformation	GLikely pathogenic
Select item 4945	NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu)	TMPRSS3 (P404L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1180654	NM_000307.5(POU3F4):c.929C>A (p.Ser310Ter)	POU3F4 (S310*)	Single nucleotide variant (nonsense)	Ear malformation	GLikely pathogenic
Select item 162479	NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)	AIFM1, RAB33A (R422W +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +4 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54