"GeneDx"[submitter] AND "TDRD7"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 260382	NM_014290.3(TDRD7):c.33A>G (p.Leu11=)	TDRD7	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 260379	NM_014290.3(TDRD7):c.207+18C>T	TDRD7	Single nucleotide variant (intron variant)	Cataract 36 +2 more	GBenign
Select item 260380	NM_014290.3(TDRD7):c.207+19G>A	TDRD7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1260120	NM_014290.3(TDRD7):c.207+169T>C	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238760	NM_014290.3(TDRD7):c.208-229T>C	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180213	NM_014290.3(TDRD7):c.208-214A>G	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256911	NM_014290.3(TDRD7):c.208-102T>C	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1708838	NM_014290.3(TDRD7):c.296G>A (p.Arg99His)	TDRD7 (R25H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211385	NM_014290.3(TDRD7):c.350-130A>G	TDRD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260383	NM_014290.3(TDRD7):c.449T>C (p.Val150Ala)	TDRD7 (V150A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 707593	NM_014290.3(TDRD7):c.543G>A (p.Val181=)	TDRD7	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 364060	NM_014290.3(TDRD7):c.563+14G>A	TDRD7	Single nucleotide variant (intron variant)	Cataract 36 +1 more	GBenign/Likely benign
Select item 1264600	NM_014290.3(TDRD7):c.563+133A>G	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250456	NM_014290.3(TDRD7):c.564-167A>G	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260384	NM_014290.3(TDRD7):c.588A>G (p.Gln196=)	TDRD7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1267024	NM_014290.3(TDRD7):c.637+64G>A	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239843	NM_014290.3(TDRD7):c.638-232G>T	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 364066	NM_014290.3(TDRD7):c.912G>A (p.Lys304=)	TDRD7	Single nucleotide variant (synonymous variant)	Cataract 36 +1 more	GBenign
Select item 1254917	NM_014290.3(TDRD7):c.1442+269C>T	TDRD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228145	NM_014290.3(TDRD7):c.1442+284A>G	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275487	NM_014290.3(TDRD7):c.1443-142G>A	LOC126860694, TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233340	NM_014290.3(TDRD7):c.1443-113T>C	LOC126860694, TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219175	NM_014290.3(TDRD7):c.1443-107T>C	LOC126860694, TDRD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198676	NM_014290.3(TDRD7):c.1629+50A>G	LOC126860694, TDRD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239405	NM_014290.3(TDRD7):c.1629+113G>A	LOC126860694, TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254314	NM_014290.3(TDRD7):c.1630-199T>C	TDRD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201032	NM_014290.3(TDRD7):c.1630-52A>G	TDRD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190524	NM_014290.3(TDRD7):c.1741+195T>C	TDRD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268815	NM_014290.3(TDRD7):c.1741+238C>T	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230502	NM_014290.3(TDRD7):c.1742-174T>G	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230631	NM_014290.3(TDRD7):c.1742-30G>A	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260377	NM_014290.3(TDRD7):c.1800T>C (p.Cys600=)	TDRD7	Single nucleotide variant (synonymous variant)	Cataract 36 +2 more	GBenign/Likely benign
Select item 364070	NM_014290.3(TDRD7):c.1869A>G (p.Ser623=)	TDRD7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 364071	NM_014290.3(TDRD7):c.1923G>A (p.Lys641=)	TDRD7	Single nucleotide variant (synonymous variant)	Cataract 36 +1 more	GBenign
Select item 1271938	NM_014290.3(TDRD7):c.1944+258A>T	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217388	NM_014290.3(TDRD7):c.1945-47T>G	TDRD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254412	NM_014290.3(TDRD7):c.2080-268A>G	TDRD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2575721	NM_014290.3(TDRD7):c.2080-146C>T	TDRD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201532	NM_014290.3(TDRD7):c.2080-139T>C	TDRD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707951	NM_014290.3(TDRD7):c.2134T>C (p.Phe712Leu)	TDRD7 (F638L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217053	NM_014290.3(TDRD7):c.2167-130G>A	TDRD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290541	NM_014290.3(TDRD7):c.2413-330C>T	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 698210	NM_014290.3(TDRD7):c.2489G>A (p.Arg830His)	TDRD7 (R830H +1 more)	Single nucleotide variant (missense variant)	Cataract 36 +1 more	GBenign/Likely benign
Select item 1254722	NM_014290.3(TDRD7):c.2916-124G>A	TDRD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183292	NM_014290.3(TDRD7):c.3076+309G>A	TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 50