ClinVar for MedGen (Select 324662) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065194	NM_031475.3(ESPN):c.1762G>A (p.Asp588Asn)	ESPN (D558N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 36	GUncertain significance
Select item 2671695	NM_031475.3(ESPN):c.2263C>T (p.Arg755Cys)	ESPN (R725C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 36	GUncertain significance
Select item 2572469	NM_031475.3(ESPN):c.1649_1665del (p.Arg550fs)	ESPN (R550fs)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 36	GPathogenic
Select item 2445633	NM_031475.3(ESPN):c.2496C>G (p.Tyr832Ter)	ESPN (Y832* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 36	GPathogenic
Select item 2445625	NM_031475.3(ESPN):c.1972G>A (p.Glu658Lys)	ESPN (E637K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 36	GLikely pathogenic
Select item 1443667	NM_031475.2(ESPN):c.2339_2341delAGG	ESPN	Microsatellite	not provided +1 more	GUncertain significance
Select item 1342840	NM_031475.3(ESPN):c.1870G>A (p.Ala624Thr)	ESPN (A594T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 36	GUncertain significance
Select item 1333558	NM_031475.3(ESPN):c.2524C>T (p.Arg842Ter)	ESPN (R812* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 36	GLikely pathogenic
Select item 1307782	NM_031475.3(ESPN):c.2069C>T (p.Ser690Leu)	ESPN (S660L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 36 +2 more	GUncertain significance
Select item 1299307	NM_031475.3(ESPN):c.2081_2082del (p.Ser694fs)	ESPN (S664fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 36	GPathogenic
Select item 1219107	NM_031475.3(ESPN):c.1803GCC[5] (p.Pro605dup)	ESPN	Microsatellite (inframe_insertion)	Autosomal recessive nonsyndromic hearing loss 36 +3 more	GLikely benign
Select item 1028415	NM_031475.3(ESPN):c.1426A>C (p.Lys476Gln)	ESPN (K476Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 36	GUncertain significance
Select item 1012722	NM_031475.3(ESPN):c.1386A>G (p.Val462=)	ESPN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 984702	NM_031475.3(ESPN):c.1916-1G>C	ESPN	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 36	GPathogenic
Select item 623132	NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter)	ESPN (E816* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 36	GLikely pathogenic
Select item 562076	NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer)	ESPN	Deletion (nonsense)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 517052	NM_031475.3(ESPN):c.1286C>T (p.Thr429Ile)	ESPN (T429I)	Single nucleotide variant (missense variant)	Usher syndrome, type 1M +2 more	GBenign/Likely benign
Select item 450999	NM_031475.3(ESPN):c.1464+1G>A	ESPN	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 449818	NM_031475.3(ESPN):c.935C>T (p.Ser312Leu)	ESPN (S312L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 226635	NM_031475.3(ESPN):c.2070G>A (p.Ser690=)	ESPN	Single nucleotide variant (synonymous variant)	Usher syndrome, type 1M +4 more	GBenign/Likely benign
Select item 163412	NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)	ESPN (P350S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 4423	NM_031475.3(ESPN):c.2539AAG[1] (p.Lys848del)	ESPN (K818del +2 more)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 36	GLikely pathogenic
Select item 4421	NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn)	ESPN (D744N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 36 +2 more	GUncertain significance
Select item 4419	NM_031475.3(ESPN):c.1988_1991del (p.Lys663fs)	ESPN (K642fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 36	GPathogenic
Select item 4418	NM_031475.3(ESPN):c.2470_2473del (p.Ser824fs)	ESPN (S794fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 36	GPathogenic

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Items: 25