"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 929914	NM_001195263.2(PDZD7):c.2639T>C (p.Ile880Thr)	PDZD7 (I880T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 44121	NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	PDZD7 (S703fs)	Deletion (frameshift variant)	Usher syndrome type 2A +5 more	GConflicting classifications of pathogenicity
Select item 3066300	NM_001195263.2(PDZD7):c.2005+6_2005+9del	PDZD7	Microsatellite (splice donor variant)	Hearing loss, autosomal recessive 57	GUncertain significance
Select item 1363154	NM_001195263.2(PDZD7):c.1747C>T (p.Arg583Trp)	PDZD7 (R583W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929916	NM_001195263.2(PDZD7):c.1672C>T (p.Arg558Trp)	PDZD7 (R558W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 178694	NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del)	PDZD7 (E450del +1 more)	Deletion (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 281754	NM_001195263.2(PDZD7):c.1079G>A (p.Gly360Asp)	PDZD7 (G360D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 849486	NM_001195263.2(PDZD7):c.802G>A (p.Asp268Asn)	PDZD7 (D268N)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GUncertain significance

ClinVar