"GeneDx"[submitter] AND "TMEM67"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 60383	GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60386	GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 673868	NM_153704.5(TMEM67):c.-297C>G	TMEM67	Single nucleotide variant	not provided	GLikely benign
Select item 1296514	NC_000008.11:g.93754619T>G	TMEM67	Single nucleotide variant	not provided	GBenign
Select item 363915	NM_001142301.1(TMEM67):c.-207del	TMEM67	Deletion (5 prime UTR variant)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 515914	NM_001142301.1(TMEM67):c.-207G>A	TMEM67	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 262740	NM_001142301.1(TMEM67):c.-200G>C	TMEM67	Single nucleotide variant (5 prime UTR variant)	Nephronophthisis 11 +3 more	GBenign/Likely benign
Select item 510630	NM_153704.6(TMEM67):c.-4T>G	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 193507	NM_153704.6(TMEM67):c.25G>A (p.Val9Met)	TMEM67 (V9M)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 14 +10 more	GConflicting classifications of pathogenicity
Select item 1050591	NM_153704.6(TMEM67):c.31A>G (p.Met11Val)	TMEM67 (M11V)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +8 more	GUncertain significance
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 287192	NM_153704.6(TMEM67):c.107C>T (p.Ala36Val)	TMEM67 (A36V)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1305631	NM_153704.6(TMEM67):c.166G>T (p.Asp56Tyr)	TMEM67 (D56Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 215970	NM_153704.6(TMEM67):c.186T>C (p.Cys62=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1230668	NM_153704.6(TMEM67):c.223+73G>A	TMEM67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691207	NM_153704.6(TMEM67):c.224-2A>T	TMEM67	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 217714	NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg)	TMEM67 (P82R)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +3 more	GConflicting classifications of pathogenicity
Select item 680284	NM_153704.6(TMEM67):c.312+14A>G	TMEM67	Single nucleotide variant (intron variant)	Joubert syndrome 6 +8 more	GBenign/Likely benign
Select item 262750	NM_153704.6(TMEM67):c.312+30C>G	TMEM67	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1191616	NM_153704.6(TMEM67):c.312+154C>G	TMEM67	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678959	NM_153704.6(TMEM67):c.312+194T>G	TMEM67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216814	NM_153704.6(TMEM67):c.312+259G>A	TMEM67	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178793	NM_153704.6(TMEM67):c.313-96C>G	TMEM67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262751	NM_153704.6(TMEM67):c.313-13dup	TMEM67	Duplication (intron variant)	not specified +7 more	GLikely benign
Select item 692261	NM_153704.6(TMEM67):c.313-3T>G	TMEM67	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 1314518	NM_153704.6(TMEM67):c.322A>G (p.Thr108Ala)	TMEM67 (T108A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 504449	NM_153704.6(TMEM67):c.385del (p.Cys129fs)	TMEM67 (C129fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1182648	NM_153704.6(TMEM67):c.406+1090dup	TMEM67	Duplication (intron variant)	not provided	GBenign
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 675894	NM_153704.6(TMEM67):c.406+1379G>A	TMEM67 (C42Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1201742	NM_153704.6(TMEM67):c.406+1463G>A	TMEM67	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253209	NM_153704.6(TMEM67):c.406+1573G>A	TMEM67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673869	NM_153704.6(TMEM67):c.407-272C>T	TMEM67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178236	NM_153704.6(TMEM67):c.407-206T>C	TMEM67	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3369311	NM_153704.6(TMEM67):c.431T>G (p.Leu144Trp)	TMEM67 (L144W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 510057	NM_153704.6(TMEM67):c.506+18G>A	TMEM67	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 262752	NM_153704.6(TMEM67):c.506+18G>T	TMEM67	Single nucleotide variant (intron variant)	not specified +9 more	GBenign/Likely benign
Select item 262753	NM_153704.6(TMEM67):c.506+48G>A	TMEM67	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 262754	NM_153704.6(TMEM67):c.507-19T>C	TMEM67	Single nucleotide variant (intron variant)	not provided +9 more	GBenign/Likely benign
Select item 461771	NM_153704.6(TMEM67):c.511G>A (p.Val171Ile)	TMEM67 (V171I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +3 more	GConflicting classifications of pathogenicity
Select item 56783	NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	TMEM67 (G195fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome and 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)	Bardet-Biedl syndrome 14 +11 more	GPathogenic
Select item 384951	NM_153704.6(TMEM67):c.652-16A>G	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 449519	NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)	TMEM67 (G137A +1 more)	Single nucleotide variant (missense variant +1 more)	COACH syndrome 1 +9 more	GUncertain significance
Select item 682507	NM_153704.6(TMEM67):c.714+18A>T	TMEM67	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GBenign/Likely benign
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 1387	NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)	TMEM67 (M252T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 126307	NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)	TMEM67 (D180N +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +9 more	GBenign/Likely benign
Select item 2574953	NM_153704.6(TMEM67):c.835G>A (p.Ala279Thr)	TMEM67 (A198T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 282355	NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)	TMEM67 (S288* +1 more)	Single nucleotide variant (nonsense +1 more)	Meckel-Gruber syndrome +8 more	GPathogenic/Likely pathogenic
Select item 262757	NM_153704.6(TMEM67):c.870-30C>T	TMEM67	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 126308	NM_153704.6(TMEM67):c.870-29A>G	TMEM67	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 419632	NM_153704.6(TMEM67):c.887G>A (p.Trp296Ter)	TMEM67 (W215* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1377	NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)	TMEM67 (S320C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
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 1259421	NM_153704.6(TMEM67):c.979-280T>C	TMEM67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678960	NM_153704.6(TMEM67):c.979-164T>C	TMEM67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298175	NM_153704.6(TMEM67):c.979-159del	TMEM67	Deletion (intron variant)	not provided	GBenign
Select item 1292485	NM_153704.6(TMEM67):c.979-107A>G	TMEM67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1426478	NM_153704.6(TMEM67):c.1033A>G (p.Lys345Glu)	TMEM67 (K345E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1698069	NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys)	TMEM67 (W265C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +3 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)	TMEM67-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 1193487	NM_153704.6(TMEM67):c.1065+152TTTG[5]	TMEM67	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1233122	NM_153704.6(TMEM67):c.1065+192dup	TMEM67	Duplication (intron variant)	not provided	GBenign
Select item 1269798	NM_153704.6(TMEM67):c.1065+192del	TMEM67	Deletion (intron variant)	not provided	GBenign
Select item 1263420	NM_153704.6(TMEM67):c.1065+261G>A	TMEM67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672289	NM_153704.6(TMEM67):c.1066-239C>T	TMEM67	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 96528	NM_153704.6(TMEM67):c.1066-3C>T	TMEM67	Single nucleotide variant (intron variant)	COACH syndrome 1 +7 more	GBenign
Select item 193945	NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)	TMEM67 (T279A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 1302408	NM_153704.6(TMEM67):c.1111G>A (p.Gly371Arg)	TMEM67 (G290R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 217726	NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)	TMEM67 (T291K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 510559	NM_153704.6(TMEM67):c.1131+19A>C	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 675902	NM_153704.6(TMEM67):c.1131+79A>G	TMEM67	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190328	NM_153704.6(TMEM67):c.1131+130dup	TMEM67	Duplication (intron variant)	not provided	GLikely benign
Select item 1268117	NM_153704.6(TMEM67):c.1131+130del	TMEM67	Deletion (intron variant)	not provided	GBenign
Select item 1219434	NM_153704.6(TMEM67):c.1131+117T>G	TMEM67	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672290	NM_153704.6(TMEM67):c.1131+145C>T	TMEM67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1393077	NM_153704.6(TMEM67):c.1177A>G (p.Ile393Val)	TMEM67 (I312V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 388118	NM_153704.6(TMEM67):c.1288+15C>T	TMEM67	Single nucleotide variant (intron variant)	COACH syndrome 1 +8 more	GLikely benign
Select item 126298	NM_153704.6(TMEM67):c.1288+46C>T	TMEM67	Single nucleotide variant (intron variant)	not provided +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)	not provided +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)	Meckel syndrome, type 3 +4 more	GPathogenic/Likely pathogenic
Select item 3369312	NM_153704.6(TMEM67):c.1337A>T (p.Asp446Val)	TMEM67 (D365V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 389128	NM_153704.6(TMEM67):c.1351C>A (p.Arg451=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 217724	NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)	TMEM67 (R370* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 6 +3 more	GPathogenic
Select item 661970	NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)	TMEM67 (R379T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GUncertain significance
Select item 1192756	NM_153704.6(TMEM67):c.1412+110G>A	TMEM67	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246091	NM_153704.6(TMEM67):c.1412+201G>A	TMEM67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215708	NM_153704.6(TMEM67):c.1412+291G>A	TMEM67	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 191259	NM_153704.6(TMEM67):c.1413-2A>G	TMEM67	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic
Select item 262742	NM_153704.6(TMEM67):c.1518+18T>C	TMEM67	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1700363	NM_153704.6(TMEM67):c.1574A>G (p.Asp525Gly)	TMEM67 (D444G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 675165	NM_153704.6(TMEM67):c.1575+53G>A	TMEM67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186720	NM_153704.6(TMEM67):c.1575+258dup	TMEM67	Duplication (intron variant)	not provided	GLikely benign
Select item 1247485	NM_153704.6(TMEM67):c.1576-181T>C	TMEM67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 530903	NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)	TMEM67 (R468C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +4 more	GPathogenic
Select item 1201285	NM_153704.6(TMEM67):c.1674+94G>A	TMEM67	Single nucleotide variant (intron variant)	not provided	GLikely benign

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