"GeneDx"[submitter] AND "PDZD9"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 1254725	NM_003366.4(UQCRC2):c.266T>C (p.Leu89Pro)	PDZD9, UQCRC2 (L89P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1271787	NM_003366.4(UQCRC2):c.267+208A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3338703	NM_003366.4(UQCRC2):c.291C>G (p.Phe97Leu)	PDZD9, UQCRC2 (F97L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385447	NM_003366.4(UQCRC2):c.315A>T (p.Ala105=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 430295	NM_003366.4(UQCRC2):c.361T>C (p.Tyr121His)	PDZD9, UQCRC2 (Y121H)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5 +1 more	GConflicting classifications of pathogenicity
Select item 1209490	NM_003366.4(UQCRC2):c.389+76G>A	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1412534	NM_003366.4(UQCRC2):c.416A>G (p.Asn139Ser)	PDZD9, UQCRC2 (N139S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383046	NM_003366.4(UQCRC2):c.420C>G (p.Val140=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 382034	NM_003366.4(UQCRC2):c.442C>A (p.Arg148Ser)	PDZD9, UQCRC2 (R148S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 41880	NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp)	UQCRC2, PDZD9 (R183W)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5 +1 more	GPathogenic/Likely pathogenic
Select item 380582	NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln)	UQCRC2, PDZD9 (R183Q)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5 +2 more	GBenign
Select item 514605	NM_003366.4(UQCRC2):c.567C>T (p.Pro189=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 387755	NM_003366.4(UQCRC2):c.582C>T (p.Asp194=)	UQCRC2, PDZD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1207004	NM_003366.4(UQCRC2):c.613-112C>T	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675590	NM_003366.4(UQCRC2):c.613-96A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513950	NM_003366.4(UQCRC2):c.624C>T (p.Phe208=)	PDZD9, UQCRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 430296	NM_003366.4(UQCRC2):c.757_766+3del	PDZD9, UQCRC2	Deletion (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 380590	NM_003366.4(UQCRC2):c.761G>A (p.Arg254His)	PDZD9, UQCRC2 (R254H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1292276	NM_003366.4(UQCRC2):c.767-108T>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674891	NM_003366.4(UQCRC2):c.767-50A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 775106	NM_003366.4(UQCRC2):c.953A>C (p.Gln318Pro)	UQCRC2, PDZD9 (Q318P)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5 +1 more	GLikely benign
Select item 1200225	NM_003366.4(UQCRC2):c.966+30T>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207386	NM_003366.4(UQCRC2):c.967-145A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 389024	NM_003366.4(UQCRC2):c.967-9A>G	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1311711	NM_003366.4(UQCRC2):c.1020dup (p.Ile341fs)	PDZD9, UQCRC2 (I341fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1211429	NM_003366.4(UQCRC2):c.1047+70C>T	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289465	NM_003366.4(UQCRC2):c.1047+189G>T	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381445	NM_003366.4(UQCRC2):c.1048-7G>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 507942	NM_003366.4(UQCRC2):c.1124+12T>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1264100	NM_003366.4(UQCRC2):c.1125-47dup	PDZD9, UQCRC2	Duplication (intron variant)	not provided	GBenign
Select item 1235956	NM_003366.4(UQCRC2):c.1278+101T>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298129	NM_003366.4(UQCRC2):c.1279-105dup	PDZD9, UQCRC2	Duplication (intron variant)	not provided	GBenign
Select item 389796	NM_003366.4(UQCRC2):c.1279-16G>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1801128	NM_003366.4(UQCRC2):c.1280C>T (p.Ala427Val)	PDZD9, UQCRC2 (A427V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380179	NM_003366.4(UQCRC2):c.1281G>A (p.Ala427=)	UQCRC2, PDZD9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1194249	NM_003366.4(UQCRC2):c.*11C>A	PDZD9, UQCRC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 253979	GRCh37/hg19 16p12.2(chr16:21806299-22407931)x1	CDR2, EEF2K +7 more	Copy number loss	See cases	GUncertain significance
Select item 253960	GRCh37/hg19 16p12.2(chr16:21968752-22407931)x3	CDR2, EEF2K +6 more	Copy number gain	See cases	GUncertain significance
Select item 253926	GRCh37/hg19 16p12.2(chr16:21817619-22407931)x1	CDR2, EEF2K +7 more	Copy number loss	See cases	GUncertain significance
Select item 253813	GRCh37/hg19 16p12.2(chr16:21976691-22407931)x1	CDR2, EEF2K +6 more	Copy number loss	See cases	GUncertain significance
Select item 253720	GRCh37/hg19 16p12.2(chr16:21968752-22407931)x1	CDR2, EEF2K +6 more	Copy number loss	See cases	GUncertain significance

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Items: 42