"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TMEM67"[ge - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2658688	NM_153704.6(TMEM67):c.63C>T (p.Ala21=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 593784	NM_153704.6(TMEM67):c.226A>G (p.Thr76Ala)	TMEM67 (T76A)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2073733	NM_153704.6(TMEM67):c.319G>A (p.Val107Ile)	TMEM67 (V107I)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +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 2658689	NM_153704.6(TMEM67):c.502G>A (p.Asp168Asn)	TMEM67 (D168N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 461771	NM_153704.6(TMEM67):c.511G>A (p.Val171Ile)	TMEM67 (V171I +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
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 262755	NM_153704.6(TMEM67):c.717A>G (p.Val239=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +3 more	GLikely benign
Select item 216826	NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)	TMEM67 (N161S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +6 more	GPathogenic/Likely pathogenic
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 1012599	NM_153704.6(TMEM67):c.869+3A>T	TMEM67	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
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 1879718	NM_153704.6(TMEM67):c.978+5A>G	TMEM67	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 126299	NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)	TMEM67 (L356V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 972688	NM_153704.6(TMEM67):c.1322G>A (p.Arg441His)	TMEM67 (R360H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GLikely pathogenic
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 2658690	NM_153704.6(TMEM67):c.1392T>G (p.Val464=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 216824	NM_153704.6(TMEM67):c.1426C>T (p.Pro476Ser)	TMEM67 (P395S +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1701551	NM_153704.6(TMEM67):c.1433_1434del (p.Thr478fs)	TMEM67 (T397fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 285516	NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys)	TMEM67 (Y567C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 810302	NM_153704.6(TMEM67):c.2049G>A (p.Val683=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
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 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 1378	NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	TMEM67 (I833T +1 more)	Single nucleotide variant (missense variant +1 more)	COACH syndrome 1 +10 more	GPathogenic/Likely pathogenic
Select item 810303	NM_153704.6(TMEM67):c.2789T>C (p.Val930Ala)	TMEM67 (V930A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2658691	NM_153704.6(TMEM67):c.2955C>T (p.Ser985=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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Items: 28