C1853153[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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

Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262740	NM_001142301.1(TMEM67):c.-200G>C	TMEM67	Single nucleotide variant (5 prime UTR variant)	Meckel syndrome, type 3 +4 more	GBenign
Select item 363916	NM_153704.6(TMEM67):c.29C>T (p.Ala10Val)	TMEM67 (A10V)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 14 +7 more	GUncertain significance
Select item 363917	NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro)	TMEM67 (L26P)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 11 +2 more	GUncertain significance
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 363919	NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu)	TMEM67 (P46L)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 6 +4 more	GUncertain significance
Select item 215970	NM_153704.6(TMEM67):c.186T>C (p.Cys62=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +6 more	GConflicting classifications of pathogenicity
Select item 909996	NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser)	TMEM67 (N90S)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 11 +4 more	GUncertain significance
Select item 910884	NM_153704.6(TMEM67):c.282T>C (p.Ala94=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 6 +2 more	GUncertain significance
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 912110	NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile)	TMEM67 (T99I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 56783	NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	TMEM67 (G195fs +1 more)	Deletion (frameshift variant +1 more)	TMEM67-Related Disorders +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)	Joubert syndrome and related disorders +11 more	GPathogenic
Select item 449519	NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)	TMEM67 (G137A +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +9 more	GUncertain significance
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 56762	NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	TMEM67 (L268S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +9 more	GPathogenic/Likely pathogenic
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 363920	NM_153704.6(TMEM67):c.1446C>T (p.Asn482=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 11 +4 more	GConflicting classifications of pathogenicity
Select item 363921	NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr)	TMEM67 (S504Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 912174	NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile)	TMEM67 (V449I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +7 more	GUncertain significance
Select item 363922	NM_153704.6(TMEM67):c.1700A>C (p.Tyr567Ser)	TMEM67 (Y486S +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 908168	NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg)	TMEM67 (K513R +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +4 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 1383	NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	TMEM67 (C615R +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +27 more	GPathogenic/Likely pathogenic
Select item 910124	NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln)	TMEM67 (R578Q +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related condition +5 more	GUncertain significance
Select item 217729	NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)	TMEM67 (L615F +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +5 more	GConflicting classifications of pathogenicity
Select item 126302	NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)	TMEM67 (P640S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +6 more	GConflicting classifications of pathogenicity
Select item 242363	NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Kidney disorder +7 more	GConflicting classifications of pathogenicity
Select item 912244	NM_153704.6(TMEM67):c.2242-7G>A	TMEM67	Single nucleotide variant (intron variant)	Meckel syndrome, type 3 +2 more	GUncertain significance
Select item 912245	NM_153704.6(TMEM67):c.2278G>C (p.Glu760Gln)	TMEM67 (E679Q +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 908240	NM_153704.6(TMEM67):c.2291G>A (p.Arg764Gln)	TMEM67 (R764Q +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +2 more	GUncertain significance
Select item 363923	NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)	TMEM67 (V767I +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 14 +9 more	GUncertain significance
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 262745	NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 6 +5 more	GConflicting classifications of pathogenicity
Select item 363924	NM_153704.6(TMEM67):c.2556+4T>G	TMEM67	Single nucleotide variant (intron variant)	not provided +5 more	GUncertain significance
Select item 363925	NM_153704.6(TMEM67):c.2556+5G>C	TMEM67	Single nucleotide variant (intron variant)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 363926	NM_153704.6(TMEM67):c.2570C>G (p.Ala857Gly)	TMEM67 (A857G +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 911073	NM_153704.6(TMEM67):c.2764+10A>T	TMEM67	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
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 913346	NM_153704.6(TMEM67):c.2907+9T>C	TMEM67	Single nucleotide variant (intron variant)	Joubert syndrome 6 +4 more	GConflicting classifications of pathogenicity
Select item 363927	NM_153704.6(TMEM67):c.2924G>A (p.Arg975His)	TMEM67 (R894H +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +4 more	GUncertain significance
Select item 363928	NM_153704.6(TMEM67):c.2928T>C (p.Asn976=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 6 +4 more	GConflicting classifications of pathogenicity
Select item 262749	NM_153704.6(TMEM67):c.2952A>G (p.Ala984=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 363929	NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile)	TMEM67 (R992I +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 262739	NM_153704.6(TMEM67):c.*19T>C	TMEM67	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 914980	NM_153704.6(TMEM67):c.*25C>T	TMEM67	Single nucleotide variant (3 prime UTR variant +1 more)	Meckel syndrome, type 3 +2 more	GUncertain significance
Select item 363930	NM_153704.6(TMEM67):c.*179T>C	TMEM67	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 363931	NM_153704.6(TMEM67):c.*218T>C	TMEM67	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 913024	NM_153704.6(TMEM67):c.*279T>C	TMEM67	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 363932	NM_153704.6(TMEM67):c.*300G>A	TMEM67	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 913394	NM_153704.6(TMEM67):c.*512T>C	TMEM67	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 913395	NM_153704.6(TMEM67):c.*580A>G	TMEM67	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 3 +2 more	GUncertain significance
Select item 914507	NM_153704.6(TMEM67):c.*690T>A	TMEM67	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 914508	NM_153704.6(TMEM67):c.*761T>G	TMEM67	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 914509	NM_153704.6(TMEM67):c.*822G>A	TMEM67	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 363933	NM_153704.6(TMEM67):c.*852C>T	TMEM67	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 11 +2 more	GBenign/Likely benign
Select item 363934	NM_153704.6(TMEM67):c.*853G>A	TMEM67	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 363935	NM_153704.6(TMEM67):c.*941T>C	TMEM67	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 363936	NM_153704.6(TMEM67):c.*942G>A	TMEM67	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 3 +2 more	GUncertain significance
Select item 912309	NM_153704.6(TMEM67):c.*1099A>G	TMEM67	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 913429	NM_153704.6(TMEM67):c.*1424C>A	TMEM67	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 363937	NM_153704.6(TMEM67):c.*1434T>C	TMEM67	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 363938	NM_153704.6(TMEM67):c.*1653G>A	TMEM67	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 913810	NM_153704.5(TMEM67):c.*1676C>T	TMEM67	Single nucleotide variant (genic downstream transcript variant)	Meckel syndrome, type 3 +2 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 66