Related gene-specific medical variations for Gene (Select 23424) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382525	NM_014290.3(TDRD7):c.1121C>T (p.Pro374Leu)	TDRD7 (P300L +1 more)	Single nucleotide variant (missense variant)	Cataract 36	GUncertain significance
Select item 3325148	NM_014290.3(TDRD7):c.1573G>A (p.Glu525Lys)	LOC126860694, TDRD7 (E451K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175521	NM_014290.3(TDRD7):c.1578G>C (p.Glu526Asp)	LOC126860694, TDRD7 (E526D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175520	NM_014290.3(TDRD7):c.1570G>A (p.Ala524Thr)	LOC126860694, TDRD7 (A450T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595059	NM_014290.3(TDRD7):c.1598A>G (p.Gln533Arg)	LOC126860694, TDRD7 (Q459R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1966557	NM_014290.3(TDRD7):c.1535A>G (p.Gln512Arg)	LOC126860694, TDRD7 (Q512R +1 more)	Single nucleotide variant (missense variant)	Cataract 36	GUncertain significance
Select item 1944764	NM_014290.3(TDRD7):c.1572C>T (p.Ala524=)	LOC126860694, TDRD7	Single nucleotide variant (synonymous variant)	Cataract 36	GLikely benign
Select item 1275487	NM_014290.3(TDRD7):c.1443-142G>A	LOC126860694, TDRD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239405	NM_014290.3(TDRD7):c.1629+113G>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 914591	NM_014290.3(TDRD7):c.-47G>A	TDRD7, LOC124310607	Single nucleotide variant (5 prime UTR variant)	Cataract 36	GUncertain significance
Select item 914590	NM_014290.3(TDRD7):c.-64A>G	LOC124310607, TDRD7	Single nucleotide variant (5 prime UTR variant)	Cataract 36	GUncertain significance
Select item 914589	NM_014290.3(TDRD7):c.-120C>G	LOC124310607, TDRD7	Single nucleotide variant (5 prime UTR variant)	Cataract 36	GUncertain significance
Select item 427905	NM_014290.3(TDRD7):c.328dup (p.Thr110fs)	TDRD7 (T110fs +1 more)	Duplication (frameshift variant)	Cataract 36	GPathogenic
Select item 427904	NM_014290.3(TDRD7):c.689dup (p.Tyr230Ter)	TDRD7 (Y156* +1 more)	Duplication (nonsense)	Cataract 36	GPathogenic
Select item 364069	NM_014290.3(TDRD7):c.1629+11T>C	TDRD7, LOC126860694	Single nucleotide variant (intron variant)	Cataract 36	GUncertain significance
Select item 364068	NM_014290.3(TDRD7):c.1583C>T (p.Ala528Val)	LOC126860694, TDRD7 (A528V +1 more)	Single nucleotide variant (missense variant)	Cataract 36 +1 more	GUncertain significance
Select item 364067	NM_014290.3(TDRD7):c.1445A>G (p.Tyr482Cys)	LOC126860694, TDRD7 (Y482C +1 more)	Single nucleotide variant (missense variant)	Cataract 36	GUncertain significance
Select item 364057	NM_014290.3(TDRD7):c.-42G>C	LOC124310607, TDRD7	Single nucleotide variant (5 prime UTR variant)	Cataract 36	GUncertain significance
Select item 364056	NM_014290.3(TDRD7):c.-83G>C	LOC124310607, TDRD7	Single nucleotide variant (5 prime UTR variant)	Cataract 36	GUncertain significance
Select item 364055	NM_014290.3(TDRD7):c.-122T>C	LOC124310607, TDRD7	Single nucleotide variant (5 prime UTR variant)	Cataract 36	GUncertain significance
Select item 364054	NM_014290.3(TDRD7):c.-133C>G	LOC124310607, TDRD7	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 364053	NM_014290.3(TDRD7):c.-147G>T	TDRD7, LOC124310607	Single nucleotide variant (5 prime UTR variant)	Cataract 36	GUncertain significance
Select item 260376	NM_014290.3(TDRD7):c.1629+7A>G	LOC126860694, TDRD7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

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Links from Gene

Items: 26