"Genetic Services Laboratory, University of Chicago"[submitter] AND "T - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 791098	NM_014444.5(TUBGCP4):c.368A>G (p.Asn123Ser)	TUBGCP4 (N123S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 190124	NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs)	TUBGCP4 (G194fs)	Duplication (frameshift variant)	Microcephaly and chorioretinopathy 3 +1 more	GPathogenic/Likely pathogenic
Select item 437136	NM_014444.5(TUBGCP4):c.660G>A (p.Glu220=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 716409	NM_014444.5(TUBGCP4):c.731T>C (p.Ile244Thr)	TUBGCP4 (I244T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 786800	NM_014444.5(TUBGCP4):c.831A>G (p.Leu277=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 437140	NM_014444.5(TUBGCP4):c.914A>C (p.Asp305Ala)	TUBGCP4 (D305A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791099	NM_014444.5(TUBGCP4):c.967G>T (p.Val323Leu)	TUBGCP4 (V323L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 377341	NM_014444.5(TUBGCP4):c.998G>A (p.Arg333His)	TUBGCP4 (R333H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 437137	NM_014444.5(TUBGCP4):c.1065+7G>A	TUBGCP4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1119838	NM_014444.5(TUBGCP4):c.1066-10C>G	TUBGCP4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 785485	NM_014444.5(TUBGCP4):c.1086T>C (p.Leu362=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 782137	NM_014444.5(TUBGCP4):c.1254C>T (p.Ile418=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 437138	NM_014444.5(TUBGCP4):c.1476G>A (p.Gln492=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 190123	NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1338423	NM_001141980.3(TP53BP1):c.3580_3581del	TP53BP1, TUBGCP4	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 437139	NM_014444.5(TUBGCP4):c.1965C>A (p.Thr655=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1337041	NM_014444.5(TUBGCP4):c.1993G>A (p.Gly665Arg)	TP53BP1, TUBGCP4 (G665R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance