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

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Items: 48

	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 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 196466	NM_014425.5(INVS):c.114T>C (p.Ser38=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 260411	NM_014425.5(INVS):c.273+46C>T	INVS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1239238	NM_014425.5(INVS):c.274-316A>T	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230921	NM_014425.5(INVS):c.274-304del	INVS	Deletion (intron variant)	not provided	GBenign
Select item 1281931	NM_014425.5(INVS):c.274-308_274-307insG	INVS	Insertion (intron variant)	not provided	GBenign
Select item 1179223	NM_014425.5(INVS):c.274-153_274-152insTCTCA	INVS	Insertion (intron variant)	not provided	GBenign
Select item 1284167	NM_014425.5(INVS):c.274-110G>A	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260412	NM_014425.5(INVS):c.274-15_274-14del	INVS	Deletion (intron variant)	Nephronophthisis +2 more	GBenign
Select item 1174445	NM_014425.5(INVS):c.615+221C>T	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225019	NM_014425.5(INVS):c.615+227C>T	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263482	NM_014425.5(INVS):c.615+292A>G	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289009	NM_014425.5(INVS):c.616-273C>T	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260418	NM_014425.5(INVS):c.616-19T>C	INVS	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GBenign/Likely benign
Select item 95600	NM_014425.5(INVS):c.740A>G (p.Asn247Ser)	INVS (N247S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 3378192	NM_014425.5(INVS):c.744A>G (p.Ile248Met)	INVS (I152M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1264382	NM_014425.5(INVS):c.797-306T>C	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1006882	NM_014425.5(INVS):c.890C>T (p.Ala297Val)	INVS (A201V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1217028	NM_014425.5(INVS):c.1078+242C>T	INVS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225824	NM_014425.5(INVS):c.1235-171C>T	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95594	NM_014425.5(INVS):c.1235-5T>C	INVS	Single nucleotide variant (intron variant)	Infantile nephronophthisis +3 more	GBenign
Select item 11963	NM_014425.5(INVS):c.1453del (p.Gln485fs)	INVS (Q159fs +2 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 1275695	NM_014425.5(INVS):c.1464+290del	INVS	Deletion (intron variant)	not provided	GBenign
Select item 1216117	NM_014425.5(INVS):c.1464+289_1464+290del	INVS	Deletion (intron variant)	not provided	GLikely benign
Select item 1234305	NM_014425.5(INVS):c.1465-188del	INVS	Deletion (intron variant)	not provided	GBenign
Select item 1234074	NM_014425.5(INVS):c.1571+237G>A	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 594062	NM_014425.5(INVS):c.1727G>A (p.Arg576Gln)	INVS (R576Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 2501444	NM_014425.5(INVS):c.1912C>T (p.Arg638Trp)	INVS (R312W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 194250	NM_014425.5(INVS):c.1925A>G (p.Lys642Arg)	INVS (K642R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 194249	NM_014425.5(INVS):c.1971C>G (p.Asp657Glu)	INVS (D657E +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis +2 more	GUncertain significance
Select item 260409	NM_014425.5(INVS):c.2068+31G>A	INVS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177791	NM_014425.5(INVS):c.2068+286T>C	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194753	NM_014425.5(INVS):c.2069-278C>A	INVS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 290949	NM_014425.5(INVS):c.2224G>A (p.Val742Met)	INVS (V742M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167195	NM_014425.5(INVS):c.2402G>A (p.Gly801Glu)	INVS (G801E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 95597	NM_014425.5(INVS):c.2412T>C (p.Ser804=)	INVS	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 3363798	NM_014425.5(INVS):c.2495G>A (p.Arg832Lys)	INVS (R506K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343241	NM_014425.5(INVS):c.2518C>T (p.Leu840Phe)	INVS (L514F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 194405	NM_014425.5(INVS):c.2686G>A (p.Val896Ile)	INVS (V896I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 11962	NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)	INVS (R899* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +2 more	GPathogenic
Select item 194406	NM_014425.5(INVS):c.2785A>G (p.Ser929Gly)	INVS (S929G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1181009	NM_014425.5(INVS):c.2787-268C>T	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260413	NM_014425.5(INVS):c.2787-23C>G	INVS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 260414	NM_014425.5(INVS):c.3016+48A>G	INVS	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1224788	NM_014425.5(INVS):c.3091+94T>G	INVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 48