"OMIM"[submitter] AND "PDZD7"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30984	NM_001195263.2(PDZD7):c.2194_2203del (p.Cys732fs)	PDZD7 (C732fs)	Deletion (frameshift variant)	Usher syndrome, type IIC, GPR98/PDZD7 digenic	GPathogenic
Select item 44121	NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	PDZD7 (S703fs)	Deletion (frameshift variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 545404	NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter)	PDZD7 (Q550*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive 57 +1 more	GPathogenic
Select item 545402	NM_001195263.2(PDZD7):c.1576C>T (p.Gln526Ter)	PDZD7 (Q526*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive 57	GPathogenic
Select item 545401	NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter)	PDZD7 (Y500* +1 more)	Single nucleotide variant (nonsense +1 more)	Hearing loss, autosomal recessive 57	GLikely pathogenic
Select item 545407	NM_001195263.2(PDZD7):c.1207del (p.His403fs)	PDZD7 (H403fs)	Deletion (frameshift variant)	Hearing loss, autosomal recessive 57	GPathogenic
Select item 545400	NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg)	PDZD7 (M285R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 57	GLikely pathogenic
Select item 545403	NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg)	PDZD7 (G228R)	Single nucleotide variant (missense variant)	PDZD7-related condition +2 more	GConflicting classifications of pathogenicity
Select item 545399	NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)	PDZD7 (G103R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 57 +2 more	GPathogenic/Likely pathogenic
Select item 545406	NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu)	PDZD7 (R66L)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 57	GUncertain significance
Select item 30983	NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)	PDZD7 (R56fs)	Duplication (frameshift variant)	not provided	GPathogenic