"GeneDx"[submitter] AND "LOC130004408"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 59401	GRCh38/hg38 10q24.1(chr10:95606298-95966000)x1	C10orf131, CC2D2B +24 more	Copy number loss	See cases	GUncertain significance
Select item 1068015	NM_015631.6(TCTN3):c.256+2_256+7del	LOC130004408, TCTN3	Deletion (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 212392	NM_015631.6(TCTN3):c.224C>T (p.Ala75Val)	LOC130004408, TCTN3 (A75V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 506607	NM_015631.6(TCTN3):c.211G>T (p.Val71Leu)	TCTN3, LOC130004408 (V71L)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +2 more	GBenign/Likely benign
Select item 130576	NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro)	LOC130004408, TCTN3 (T65P)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1496697	NM_015631.6(TCTN3):c.178G>A (p.Val60Met)	LOC130004408, TCTN3 (V60M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 389004	NM_015631.6(TCTN3):c.159G>A (p.Ala53=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +2 more	GLikely benign
Select item 511205	NM_015631.6(TCTN3):c.153A>G (p.Ser51=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +2 more	GLikely benign
Select item 1312043	NM_015631.6(TCTN3):c.43G>T (p.Val15Leu)	LOC130004408, TCTN3 (V15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303746	NM_015631.6(TCTN3):c.41T>C (p.Leu14Pro)	LOC130004408, TCTN3 (L14P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313690	NM_015631.6(TCTN3):c.36C>G (p.Phe12Leu)	LOC130004408, TCTN3 (F12L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260667	NM_015631.6(TCTN3):c.21G>A (p.Ala7=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 217703	NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)	LOC130004408, TCTN3 (M1I)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 18 +3 more	GPathogenic/Likely pathogenic