ClinVar (all) for Orgtrack (Select 506163) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572174	NM_003064.4(SLPI):c.394+1G>T	SLPI	Single nucleotide variant (splice donor variant)	Otitis media, susceptibility to	GPathogenic
Select item 1294436	NM_152750.5(CDHR3):c.2392G>T (p.Ala798Ser)	CDHR3 (A710S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1294435	NM_152750.5(CDHR3):c.2185T>C (p.Tyr729His)	CDHR3 (Y641H +1 more)	Single nucleotide variant (missense variant)	Susceptibility to nonsyndromic otitis media	GUncertain significance
Select item 1294434	NM_152750.5(CDHR3):c.1653+3G>A	CDHR3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1294433	NM_152750.5(CDHR3):c.1516C>T (p.Leu506Phe)	CDHR3 (L418F +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1294432	NM_152750.5(CDHR3):c.1316del (p.Pro439fs)	CDHR3 (P351fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1294431	NM_152750.5(CDHR3):c.1135C>T (p.Pro379Ser)	CDHR3 (P291S +1 more)	Single nucleotide variant (missense variant)	Susceptibility to nonsyndromic otitis media	GUncertain significance
Select item 1294430	NM_152750.5(CDHR3):c.1064C>T (p.Pro355Leu)	CDHR3 (P267L +1 more)	Single nucleotide variant (missense variant)	Susceptibility to nonsyndromic otitis media	GUncertain significance
Select item 1294429	NM_152750.5(CDHR3):c.622G>A (p.Val208Met)	CDHR3 (V120M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 918082	NM_006846.4(SPINK5):c.2974A>T (p.Met992Leu)	SPINK5 (M1022L +1 more)	Single nucleotide variant (missense variant)	Susceptibility to nonsyndromic otitis media	GUncertain significance
Select item 918081	NM_006846.4(SPINK5):c.2493T>A (p.Asn831Lys)	SPINK5 (N831K)	Single nucleotide variant (missense variant)	Susceptibility to nonsyndromic otitis media	GUncertain significance
Select item 918080	NM_006846.4(SPINK5):c.*74A>G	SPINK5	Single nucleotide variant (3 prime UTR variant)	Susceptibility to nonsyndromic otitis media	GUncertain significance
Select item 918079	NM_006846.4(SPINK5):c.1345C>A (p.Leu449Ile)	SPINK5 (L449I)	Single nucleotide variant (missense variant)	Netherton syndrome	GUncertain significance
Select item 918078	NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly)	SPINK5 (E561G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 692204	NM_000301.5(PLG):c.1481C>T (p.Ala494Val)	PLG (A494V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 692203	NM_000301.5(PLG):c.2045T>A (p.Ile682Asn)	PLG (I682N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 692202	NM_000301.5(PLG):c.1414G>A (p.Asp472Asn)	PLG (D472N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 692201	NM_000301.5(PLG):c.782G>A (p.Arg261His)	PLG (R261H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 651161	NM_006846.4(SPINK5):c.551G>A (p.Gly184Asp)	SPINK5 (G184D)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa	GUncertain significance
Select item 626345	NM_144670.6(A2ML1):c.3491C>T (p.Ala1164Val)	A2ML1 (A1164V +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 626344	NM_144670.6(A2ML1):c.2971G>C (p.Ala991Pro)	A2ML1 (A991P +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 626343	NM_144670.6(A2ML1):c.2545G>T (p.Asp849Tyr)	A2ML1 (D849Y +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 626342	NM_144670.6(A2ML1):c.2228C>T (p.Pro743Leu)	A2ML1 (P743L +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 626341	NM_144670.6(A2ML1):c.2189G>A (p.Arg730His)	A2ML1 (R730H +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to +1 more	GUncertain significance
Select item 626340	NM_144670.6(A2ML1):c.1683G>C (p.Gln561His)	A2ML1 (Q561H +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 626339	NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile)	A2ML1, A2ML1-AS1 (T55I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 626218	NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu)	CHD7 (Q2438E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 626217	NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys)	MYH14 (E991K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 626216	NM_000091.5(COL4A3):c.764C>T (p.Thr255Met)	COL4A3, MFF-DT (T255M)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +4 more	GConflicting classifications of pathogenicity
Select item 626215	NM_016239.4(MYO15A):c.263C>T (p.Thr88Met)	MYO15A (T88M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
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 617559	NM_144670.6(A2ML1):c.2329G>A (p.Gly777Arg)	A2ML1 (G777R +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to +1 more	GUncertain significance
Select item 617558	NM_144670.6(A2ML1):c.2012T>C (p.Leu671Pro)	A2ML1 (L671P +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 617557	NM_144670.6(A2ML1):c.1308A>C (p.Gln436His)	A2ML1 (Q436H)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 617556	NM_144670.6(A2ML1):c.971-8C>T	A2ML1	Single nucleotide variant (intron variant)	Otitis media, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 617555	NM_144670.6(A2ML1):c.10C>T (p.Gln4Ter)	A2ML1, A2ML1-AS1 (Q4*)	Single nucleotide variant (nonsense)	Otitis media, susceptibility to	GLikely pathogenic
Select item 617554	NM_144670.6(A2ML1):c.4061+1G>C	A2ML1	Single nucleotide variant (splice donor variant)	Otitis media, susceptibility to +2 more	GConflicting classifications of pathogenicity
Select item 449103	NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly)	SPINK5 (E748G)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa +2 more	GConflicting classifications of pathogenicity
Select item 384690	NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu)	A2ML1 (F733L +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to +2 more	GConflicting classifications of pathogenicity
Select item 351519	NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)	SPINK5 (R268C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 351517	NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter)	SPINK5 (R218*)	Single nucleotide variant (nonsense)	Netherton syndrome +1 more	GPathogenic
Select item 241896	NM_144670.6(A2ML1):c.2713-8C>A	A2ML1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163451	NM_004100.5(EYA4):c.1109G>A (p.Arg370His)	EYA4 (R370H +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 163032	NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)	GSDME (D426del +1 more)	Microsatellite (inframe_deletion)	not specified +1 more	GBenign/Likely benign
Select item 13583	NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	PLG (K38E)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 45