ClinVar for MedGen (Select 462054) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065387	NM_004568.6(SERPINB6):c.203T>C (p.Ile68Thr)	SERPINB6 (I24T +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 91	GUncertain significance
Select item 1678710	NM_004568.6(SERPINB6):c.1096G>A (p.Gly366Arg)	SERPINB6 (G322R +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 91 +1 more	GUncertain significance
Select item 1325052	NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile)	SERPINB6 (M15I +3 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 91	GLikely pathogenic
Select item 1241403	NM_004568.6(SERPINB6):c.573+26A>G	SERPINB6	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 91 +1 more	GBenign
Select item 1231339	NM_004568.6(SERPINB6):c.431-25T>C	SERPINB6	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 91 +1 more	GBenign
Select item 1180351	NM_004568.6(SERPINB6):c.730-32G>A	SERPINB6	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 91 +1 more	GBenign
Select item 504995	NM_004568.6(SERPINB6):c.251C>T (p.Thr84Met)	SERPINB6 (T88M +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 91 +2 more	GUncertain significance
Select item 165196	NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile)	SERPINB6 (V45I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 165191	NM_004568.6(SERPINB6):c.430+3G>A	SERPINB6	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 44135	NM_004568.6(SERPINB6):c.54G>A (p.Thr18=)	SERPINB6	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 44132	NM_004568.6(SERPINB6):c.268A>G (p.Met90Val)	SERPINB6 (M94V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 13601	NM_004568.6(SERPINB6):c.733G>T (p.Glu245Ter)	SERPINB6 (E245* +4 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 91	GPathogenic