"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262741	NM_153704.6(TMEM67):c.120T>C (p.Ser40=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +5 more	GConflicting classifications of pathogenicity
Select item 286625	NM_153704.6(TMEM67):c.369C>T (p.Ala123=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1376	NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	TMEM67 (R208* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome and related disorders +11 more	GPathogenic
Select item 1387	NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)	TMEM67 (M252T +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +8 more	GPathogenic
Select item 126307	NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)	TMEM67 (D180N +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +9 more	GBenign/Likely benign
Select item 262756	NM_153704.6(TMEM67):c.869+9A>G	TMEM67	Single nucleotide variant (intron variant)	Nephronophthisis 11 +5 more	GConflicting classifications of pathogenicity
Select item 1377	NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)	TMEM67 (S320C +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related condition +9 more	GConflicting classifications of pathogenicity
Select item 96528	NM_153704.6(TMEM67):c.1066-3C>T	TMEM67	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +7 more	GBenign
Select item 661970	NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)	TMEM67 (R379T +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +9 more	GUncertain significance
Select item 126301	NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val)	TMEM67 (I523V +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +7 more	GBenign
Select item 126304	NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Kidney disorder +10 more	GBenign/Likely benign