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

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126303	NM_153704.6(TMEM67):c.224-4_224-3del	TMEM67	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 212406	NM_153704.6(TMEM67):c.271G>A (p.Gly91Arg)	TMEM67 (G91R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 212409	NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)	TMEM67 (K99N)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 6 +3 more	GConflicting classifications of pathogenicity
Select item 126305	NM_153704.6(TMEM67):c.406+1361C>T	TMEM67 (P36L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 56783	NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	TMEM67 (G195fs +1 more)	Deletion (frameshift variant +1 more)	Meckel syndrome, type 3 +6 more	GPathogenic/Likely pathogenic
Select item 1376	NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	TMEM67 (R208* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 11 +11 more	GPathogenic
Select item 126306	NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg)	TMEM67 (G169R +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1337715	NM_153704.6(TMEM67):c.758G>A (p.Cys253Tyr)	TMEM67 (C172Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 126307	NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)	TMEM67 (D180N +1 more)	Single nucleotide variant (missense variant +1 more)	COACH syndrome 1 +9 more	GBenign/Likely benign
Select item 126308	NM_153704.6(TMEM67):c.870-29A>G	TMEM67	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 56762	NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	TMEM67 (L268S +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 96528	NM_153704.6(TMEM67):c.1066-3C>T	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +7 more	GBenign
Select item 126298	NM_153704.6(TMEM67):c.1288+46C>T	TMEM67	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 126299	NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)	TMEM67 (L356V +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +4 more	GConflicting classifications of pathogenicity
Select item 56764	NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)	TMEM67 (R359Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
Select item 521968	NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr)	TMEM67 (A491T +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +4 more	GConflicting classifications of pathogenicity
Select item 126300	NM_153704.6(TMEM67):c.1774-45A>C	TMEM67	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 126301	NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val)	TMEM67 (I523V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +7 more	GBenign
Select item 126302	NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)	TMEM67 (P640S +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +6 more	GConflicting classifications of pathogenicity
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
Select item 1338632	NM_153704.6(TMEM67):c.2764+2T>A	TMEM67	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 212407	NM_153704.6(TMEM67):c.2806G>A (p.Glu936Lys)	TMEM67 (E855K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 96529	NM_153704.6(TMEM67):c.2892A>C (p.Thr964=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +6 more	GBenign
Select item 212408	NM_153704.6(TMEM67):c.2900A>C (p.Gln967Pro)	TMEM67 (Q886P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 24