"Ambry Genetics"[submitter] AND "TMEM67"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1396850	NM_153704.6(TMEM67):c.28G>A (p.Ala10Thr)	TMEM67 (A10T)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1539494	NM_153704.6(TMEM67):c.37G>A (p.Val13Ile)	TMEM67 (V13I)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1376259	NM_153704.6(TMEM67):c.46C>T (p.Leu16Phe)	TMEM67 (L16F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1416073	NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe)	TMEM67 (L30F)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 14 +9 more	GUncertain significance
Select item 3179614	NM_153704.6(TMEM67):c.139G>A (p.Glu47Lys)	TMEM67 (E47K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1484767	NM_153704.6(TMEM67):c.169A>G (p.Ile57Val)	TMEM67 (I57V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3179615	NM_153704.6(TMEM67):c.176C>T (p.Ala59Val)	TMEM67 (A59V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2335316	NM_153704.6(TMEM67):c.191C>T (p.Pro64Leu)	TMEM67 (P64L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1928381	NM_153704.6(TMEM67):c.217G>A (p.Ala73Thr)	TMEM67 (A73T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 411582	NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu)	TMEM67 (G75E)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +8 more	GUncertain significance
Select item 1355350	NM_153704.6(TMEM67):c.288T>G (p.Ile96Met)	TMEM67 (I96M)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 284277	NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys)	TMEM67 (E124K)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1525811	NM_153704.6(TMEM67):c.497T>C (p.Leu166Ser)	TMEM67 (L166S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 912110	NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile)	TMEM67 (T99I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1629434	NM_153704.6(TMEM67):c.577-6A>G	TMEM67	Single nucleotide variant (intron variant)	Inborn genetic diseases +8 more	GLikely benign
Select item 1376	NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	TMEM67 (R208* +1 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 14 +11 more	GPathogenic
Select item 3179617	NM_153704.6(TMEM67):c.712T>C (p.Trp238Arg)	TMEM67 (W238R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491808	NM_153704.6(TMEM67):c.718T>C (p.Tyr240His)	TMEM67 (Y159H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 216826	NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)	TMEM67 (N161S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 1442676	NM_153704.6(TMEM67):c.820A>C (p.Ile274Leu)	TMEM67 (I193L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 2339071	NM_153704.6(TMEM67):c.829A>T (p.Asn277Tyr)	TMEM67 (N196Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1314480	NM_153704.6(TMEM67):c.848C>T (p.Thr283Ile)	TMEM67 (T202I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1706138	NM_153704.6(TMEM67):c.970G>A (p.Glu324Lys)	TMEM67 (E243K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1398637	NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln)	TMEM67 (K250Q +1 more)	Single nucleotide variant (missense variant +1 more)	COACH syndrome 1 +8 more	GUncertain significance
Select item 2302344	NM_153704.6(TMEM67):c.1256A>G (p.Asn419Ser)	TMEM67 (N338S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 217725	NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	TMEM67 (R360C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +23 more	GConflicting classifications of pathogenicity
Select item 2246604	NM_153704.6(TMEM67):c.1381G>T (p.Val461Leu)	TMEM67 (V380L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1003200	NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr)	TMEM67 (D418Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GUncertain significance
Select item 363921	NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr)	TMEM67 (S504Y +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +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)	Inborn genetic diseases +8 more	GUncertain significance
Select item 521968	NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr)	TMEM67 (A491T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1383	NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	TMEM67 (C615R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +26 more	GPathogenic/Likely pathogenic
Select item 2206129	NM_153704.6(TMEM67):c.2083G>C (p.Val695Leu)	TMEM67 (V614L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1451268	NM_153704.6(TMEM67):c.2122G>C (p.Ala708Pro)	TMEM67 (A627P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2280599	NM_153704.6(TMEM67):c.2193G>C (p.Leu731Phe)	TMEM67 (L650F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Nephronophthisis 11 +9 more	GUncertain significance
Select item 1407135	NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val)	TMEM67 (I694V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +9 more	GUncertain significance
Select item 2532366	NM_153704.6(TMEM67):c.2438C>G (p.Ala813Gly)	TMEM67 (A732G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1517386	NM_153704.6(TMEM67):c.2447T>G (p.Leu816Trp)	TMEM67 (L735W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3179616	NM_153704.6(TMEM67):c.2471C>G (p.Pro824Arg)	TMEM67 (P743R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477358	NM_153704.6(TMEM67):c.2503A>G (p.Ile835Val)	TMEM67 (I754V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2270685	NM_153704.6(TMEM67):c.2564G>A (p.Gly855Asp)	TMEM67 (G855D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3327170	NM_153704.6(TMEM67):c.2731A>G (p.Met911Val)	TMEM67 (M911V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1368396	NM_153704.6(TMEM67):c.2932G>A (p.Val978Ile)	TMEM67 (V978I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1424253	NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe)	TMEM67 (S985F +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +8 more	GUncertain significance
Select item 2150135	NM_153704.6(TMEM67):c.2982G>T (p.Leu994Phe)	TMEM67 (L913F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance

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Items: 46