Related gene-specific medical variations for Gene (Select 85378) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362025	NM_020461.4(TUBGCP6):c.3979C>T (p.Pro1327Ser)	TUBGCP6 (P1327S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248132	NC_000022.10:g.(?_50657893)_(50664226_?)del	TUBGCP6	Deletion	not provided	GLikely pathogenic
Select item 3248131	NC_000022.10:g.(?_50667813)_(50682888_?)del	TUBGCP6	Deletion	not provided	GPathogenic
Select item 2627912	NM_020461.4(TUBGCP6):c.4664del (p.Pro1555fs)	TUBGCP6 (P1555fs)	Deletion (frameshift variant)	Microcephaly and chorioretinopathy 1	GLikely pathogenic
Select item 2438444	NM_020461.4(TUBGCP6):c.3551G>A (p.Arg1184Gln)	TUBGCP6 (R1184Q)	Single nucleotide variant (missense variant)	Microcephaly and chorioretinopathy 1	GUncertain significance
Select item 2438443	NM_020461.4(TUBGCP6):c.3452T>G (p.Val1151Gly)	TUBGCP6 (V1151G)	Single nucleotide variant (missense variant)	Microcephaly and chorioretinopathy 1	GUncertain significance
Select item 2438442	NM_020461.4(TUBGCP6):c.1594T>C (p.Tyr532His)	TUBGCP6 (Y532H)	Single nucleotide variant (missense variant)	Microcephaly and chorioretinopathy 1	GUncertain significance
Select item 1319703	NM_020461.4(TUBGCP6):c.3221A>G (p.Gln1074Arg)	TUBGCP6 (Q1074R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987039	NM_020461.4(TUBGCP6):c.4315+1G>A	TUBGCP6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 446075	NM_020461.4(TUBGCP6):c.3500C>T (p.Ala1167Val)	TUBGCP6 (A1167V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445767	NM_020461.4(TUBGCP6):c.407A>G (p.Asn136Ser)	TUBGCP6 (N136S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance