"Clinical Genetics, Academic Medical Center"[submitter] AND "TUBGCP6"[ - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1084689	NM_020461.4(TUBGCP6):c.5369-7dup	TUBGCP6	Duplication (intron variant)	TUBGCP6-related disorder +1 more	GLikely benign
Select item 437142	NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=)	TUBGCP6	Single nucleotide variant (synonymous variant)	Microcephaly and chorioretinopathy 1 +2 more	GBenign/Likely benign
Select item 1170853	NM_020461.4(TUBGCP6):c.4861G>C (p.Val1621Leu)	TUBGCP6 (V1621L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 726366	NM_020461.4(TUBGCP6):c.4398C>T (p.Ala1466=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 522310	NM_020461.4(TUBGCP6):c.4317C>A (p.Ser1439=)	TUBGCP6	Single nucleotide variant (synonymous variant)	Microcephaly and chorioretinopathy 1 +1 more	GBenign
Select item 518327	NM_020461.4(TUBGCP6):c.4315+20T>C	TUBGCP6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 518328	NM_020461.4(TUBGCP6):c.4129A>G (p.Thr1377Ala)	TUBGCP6 (T1377A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 522311	NM_020461.4(TUBGCP6):c.3732C>T (p.His1244=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 719310	NM_020461.4(TUBGCP6):c.2487C>G (p.Val829=)	TUBGCP6	Single nucleotide variant (synonymous variant)	Microcephaly and chorioretinopathy 1 +1 more	GBenign/Likely benign
Select item 518329	NM_020461.4(TUBGCP6):c.1700T>C (p.Leu567Ser)	TUBGCP6 (L567S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 518330	NM_020461.4(TUBGCP6):c.24C>T (p.Phe8=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GBenign