Related gene-specific medical variations for Gene (Select 27130) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245137	NC_000009.11:g.(?_102886435)_(102888697_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3245134	NC_000009.11:g.(?_103014545)_(103015438_?)dup	INVS	Duplication	Nephronophthisis	GLikely pathogenic
Select item 3245133	NC_000009.11:g.(?_102988324)_(103035378_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3245132	NC_000009.11:g.(?_103059179)_(103060312_?)del	INVS	Deletion	Nephronophthisis	GLikely pathogenic
Select item 3245131	NC_000009.11:g.(?_103002531)_(103006718_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3245130	NC_000009.11:g.(?_102866804)_(102866929_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3245129	NC_000009.11:g.(?_103027084)_(103027230_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 2690626	NM_014425.5(INVS):c.2371C>T (p.Gln791Ter)	INVS (Q465* +2 more)	Single nucleotide variant (nonsense +1 more)	Infantile nephronophthisis	GLikely pathogenic
Select item 2432859	NM_014425.5(INVS):c.2935G>A (p.Val979Ile)	INVS (V653I +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 1252044	NM_014425.5(INVS):c.753T>G (p.Tyr251Ter)	INVS (Y155* +1 more)	Single nucleotide variant (nonsense +2 more)	Infantile nephronophthisis	GPathogenic
Select item 979861	GRCh37/hg19 9q31.1(chr9:102911709-103044374)x1	INVS	Copy number loss	not provided	GUncertain significance
Select item 688978	GRCh37/hg19 9q31.1(chr9:102965586-103023946)x1	INVS	Copy number loss	not provided	GPathogenic
Select item 592036	NM_014425.5(INVS):c.786dup (p.Ala263fs)	INVS (A263fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 591300	NM_014425.5(INVS):c.2858G>A (p.Trp953Ter)	INVS (W953* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 563574	GRCh37/hg19 9q31.1(chr9:102909159-102988115)x1	INVS	Copy number loss	not provided	GUncertain significance
Select item 364220	NM_014425.5(INVS):c.-110T>G	LOC130002251, INVS	Single nucleotide variant (5 prime UTR variant +1 more)	Infantile nephronophthisis +3 more	GBenign
Select item 364219	NM_014425.5(INVS):c.-129C>A	INVS, LOC130002251	Single nucleotide variant (5 prime UTR variant +1 more)	Infantile nephronophthisis	GUncertain significance
Select item 260419	NM_014425.5(INVS):c.849C>T (p.Ile283=)	INVS	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 260417	NM_014425.5(INVS):c.615+13G>T	INVS	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 260410	NM_014425.5(INVS):c.2568G>A (p.Arg856=)	INVS	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 260407	NM_014425.5(INVS):c.178A>C (p.Arg60=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 260405	NM_014425.5(INVS):c.1131G>A (p.Leu377=)	INVS	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign

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Links from Gene

Items: 22