ClinVar for MedGen (Select 373370) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299312	NM_003672.4(CDC14A):c.50-1G>T	CDC14A	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 32	GLikely pathogenic
Select item 1192712	NM_003672.4(CDC14A):c.839-124T>C	CDC14A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192711	NM_003672.4(CDC14A):c.-47T>C	CDC14A	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 32 +1 more	GBenign
Select item 1181745	NM_003672.4(CDC14A):c.1251-139A>G	CDC14A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1028517	NM_003672.4(CDC14A):c.1745G>A (p.Arg582His)	CDC14A (R524H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028516	NM_003672.4(CDC14A):c.1251-5C>T	CDC14A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 32 +1 more	GConflicting classifications of pathogenicity
Select item 667084	NM_003672.4(CDC14A):c.457-6T>C	CDC14A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 32 +2 more	GLikely benign
Select item 638290	NM_003672.4(CDC14A):c.417C>G (p.Tyr139Ter)	CDC14A (Y139* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 32	GPathogenic
Select item 638289	NM_003672.4(CDC14A):c.959A>C (p.Gln320Pro)	CDC14A (Q320P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 32	GLikely pathogenic
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 559438	NM_003672.4(CDC14A):c.839-3C>G	CDC14A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 32	GPathogenic
Select item 559437	NM_003672.4(CDC14A):c.376del (p.Tyr126fs)	CDC14A (Y126fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 32	GPathogenic
Select item 559436	NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly)	CDC14A (R312G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 32 +1 more	GPathogenic/Likely pathogenic
Select item 559435	NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln)	CDC14A (R312Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 235146	NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter)	CDC14A (R339* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 32 +1 more	GPathogenic
Select item 235145	NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter)	CDC14A (R376* +2 more)	Single nucleotide variant (nonsense)	Ear malformation +1 more	GPathogenic/Likely pathogenic