"Athena Diagnostics"[submitter] AND "PDZD7"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44127	NM_001195263.2(PDZD7):c.2368A>G (p.Lys790Glu)	PDZD7 (K790E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 44125	NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3])	PDZD7	Deletion	not provided +2 more	GBenign/Likely benign
Select item 44123	NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu)	PDZD7 (P715L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 44122	NM_001195263.2(PDZD7):c.2132A>G (p.His711Arg)	PDZD7 (H711R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 44120	NM_001195263.2(PDZD7):c.2049G>A (p.Pro683=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 805116	NM_001195263.2(PDZD7):c.1940C>T (p.Pro647Leu)	PDZD7 (P647L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44119	NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu)	PDZD7 (G538E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 281754	NM_001195263.2(PDZD7):c.1079G>A (p.Gly360Asp)	PDZD7 (G360D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 46206	NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=)	PDZD7	Single nucleotide variant (synonymous variant)	Usher syndrome type 2C +4 more	GBenign
Select item 164942	NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn)	PDZD7 (S324N)	Single nucleotide variant (missense variant)	PDZD7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 46212	NM_001195263.2(PDZD7):c.936C>T (p.Asn312=)	PDZD7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 197722	NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu)	PDZD7 (V191E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 46209	NM_001195263.2(PDZD7):c.159G>C (p.Gly53=)	PDZD7	Single nucleotide variant (synonymous variant)	PDZD7-related disorder +2 more	GBenign