51259[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150457	GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3	CPSF7, CYB561A3 +23 more	Copy number gain	See cases	GUncertain significance
Select item 1206884	NC_000011.10:g.61392099C>T	TMEM216	Single nucleotide variant	not provided	GLikely benign
Select item 667552	NM_001173990.2(TMEM216):c.-443T>C	TMEM216	Single nucleotide variant	not provided	GBenign
Select item 878303	NM_001173990.2(TMEM216):c.-285A>G	TMEM216	Single nucleotide variant	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 878304	NM_001173990.2(TMEM216):c.-264C>T	TMEM216	Single nucleotide variant	Joubert syndrome 2 +1 more	GUncertain significance
Select item 305072	NM_001173990.2(TMEM216):c.-242C>T	TMEM216	Single nucleotide variant	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 305073	NM_001173990.2(TMEM216):c.-135T>C	TMEM216	Single nucleotide variant	Meckel syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 305074	NM_001173990.2(TMEM216):c.-128A>C	TMEM216	Single nucleotide variant	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 305075	NM_001173990.2(TMEM216):c.-91G>A	TMEM216	Single nucleotide variant	Meckel syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 878887	NM_001173990.2(TMEM216):c.-86G>A	TMEM216	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3054282	NM_001173990.3(TMEM216):c.-28G>T	TMEM216	Single nucleotide variant (5 prime UTR variant)	TMEM216-related disorder	GLikely benign
Select item 502365	NM_001173990.3(TMEM216):c.-24_12del (p.Met1_Arg4del)	TMEM216	Deletion (inframe_deletion +2 more)	not provided +1 more	GUncertain significance
Select item 305076	NM_001173990.3(TMEM216):c.-24C>T	TMEM216	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 257595	NM_001173990.3(TMEM216):c.-24C>G	TMEM216	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 2 +3 more	GBenign/Likely benign
Select item 557444	NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs)	TMEM216 (M1fs)	Deletion (frameshift variant +2 more)	Joubert syndrome 2 +1 more	GUncertain significance
Select item 3030484	NM_001173990.3(TMEM216):c.-6C>T	TMEM216	Single nucleotide variant (5 prime UTR variant)	TMEM216-related disorder	GLikely benign
Select item 193188	NM_001173990.3(TMEM216):c.-2G>T	TMEM216	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GBenign
Select item 557517	NM_001173990.3(TMEM216):c.1A>G (p.Met1Val)	TMEM216 (M1V)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 2 +1 more	GUncertain significance
Select item 557516	NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr)	TMEM216 (M1T)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 2 +1 more	GUncertain significance
Select item 556222	NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)	TMEM216 (M1K)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1503147	NM_001173990.3(TMEM216):c.4C>G (p.Leu2Val)	TMEM216 (L2V)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 502341	NM_001173990.3(TMEM216):c.4C>T (p.Leu2=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193189	NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)	TMEM216 (L2P)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2917785	NM_001173990.3(TMEM216):c.6G>A (p.Leu2=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 452672	NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr)	TMEM216 (P3T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3326958	NM_001173990.3(TMEM216):c.10C>T (p.Arg4Trp)	TMEM216 (R4W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 855127	NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)	TMEM216 (R4Q)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1442020	NM_001173990.3(TMEM216):c.14G>T (p.Gly5Val)	TMEM216 (G5V)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 1934996	NM_001173990.3(TMEM216):c.16C>G (p.Leu6Val)	TMEM216 (L6V)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 1901778	NM_001173990.3(TMEM216):c.16C>T (p.Leu6=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 1937273	NM_001173990.3(TMEM216):c.22A>G (p.Met8Val)	TMEM216 (M8V)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 991117	NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val)	TMEM216 (A9V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1542883	NM_001173990.3(TMEM216):c.27G>T (p.Ala9=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 790362	NM_001173990.3(TMEM216):c.30G>A (p.Pro10=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2679224	NM_001173990.3(TMEM216):c.34+1G>A	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 2	GLikely pathogenic
Select item 371740	NM_001173990.3(TMEM216):c.34+2T>C	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 2 +2 more	GLikely pathogenic
Select item 1991512	NM_001173990.3(TMEM216):c.34+7T>A	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 1548166	NM_001173990.3(TMEM216):c.34+8T>C	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2831624	NM_001173990.3(TMEM216):c.34+10C>G	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2051184	NM_001173990.3(TMEM216):c.34+10C>T	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2895407	NM_001173990.3(TMEM216):c.34+11G>A	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2772872	NM_001173990.3(TMEM216):c.34+11G>T	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2756578	NM_001173990.3(TMEM216):c.34+12G>A	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 1645387	NM_001173990.3(TMEM216):c.34+12G>C	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 551429	NM_001173990.3(TMEM216):c.34+18_34+21del	TMEM216	Microsatellite (splice donor variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1620567	NM_001173990.3(TMEM216):c.35-19C>T	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3012438	NM_001173990.3(TMEM216):c.35-18T>A	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2912692	NM_001173990.3(TMEM216):c.35-18T>G	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 257597	NM_001173990.3(TMEM216):c.35-17C>T	TMEM216	Single nucleotide variant (intron variant)	Joubert syndrome 2 +4 more	GBenign/Likely benign
Select item 376902	NM_001173990.3(TMEM216):c.35-13_36del	TMEM216	Deletion (splice acceptor variant)	Familial aplasia of the vermis +2 more	GLikely pathogenic
Select item 2014371	NM_001173990.3(TMEM216):c.35-14T>A	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GUncertain significance
Select item 2732339	NM_001173990.3(TMEM216):c.35-10_35-8dup	TMEM216	Duplication (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2710313	NM_001173990.3(TMEM216):c.35-13G>C	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2767834	NM_001173990.3(TMEM216):c.35-11_35-10delinsAA	TMEM216	Indel (intron variant)	Familial aplasia of the vermis	GUncertain significance
Select item 1605720	NM_001173990.3(TMEM216):c.35-10C>G	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 1130911	NM_001173990.3(TMEM216):c.35-9C>G	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2746004	NM_001173990.3(TMEM216):c.35-8T>G	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 1558276	NM_001173990.3(TMEM216):c.35-6T>C	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2114495	NM_001173990.3(TMEM216):c.35-3del	TMEM216	Deletion (intron variant)	Familial aplasia of the vermis	GUncertain significance
Select item 2767835	NM_001173990.3(TMEM216):c.35-2_35-1insT	TMEM216	Insertion (splice acceptor variant)	Familial aplasia of the vermis	GLikely pathogenic
Select item 371778	NM_001173990.3(TMEM216):c.35-2A>G	TMEM216	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis +2 more	GLikely pathogenic
Select item 1469730	NM_001173990.3(TMEM216):c.35-1G>A	TMEM216	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis	GLikely pathogenic
Select item 2767836	NM_001173990.3(TMEM216):c.36T>A (p.Gly12=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2955037	NM_001173990.3(TMEM216):c.40C>G (p.Arg14Gly)	TMEM216 (R14G)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 857506	NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp)	TMEM216 (R14W)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 2794154	NM_001173990.3(TMEM216):c.43T>C (p.Leu15=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 697744	NM_001173990.3(TMEM216):c.51C>T (p.Ser17=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 1641349	NM_001173990.3(TMEM216):c.54C>A (p.Thr18=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2641828	NM_001173990.3(TMEM216):c.57G>A (p.Pro19=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 598600	NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2705827	NM_001173990.3(TMEM216):c.77_78insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATCCTGTTCTTTCT (p.Leu26_Asn27insPhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)	TMEM216	Insertion (nonsense +2 more)	Familial aplasia of the vermis	GPathogenic
Select item 591162	NM_001173990.3(TMEM216):c.67del (p.Leu23fs)	TMEM216 (L23fs)	Deletion (frameshift variant +1 more)	Joubert syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 1629017	NM_001173990.3(TMEM216):c.67C>T (p.Leu23=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 1901843	NM_001173990.3(TMEM216):c.69G>A (p.Leu23=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 1644525	NM_001173990.3(TMEM216):c.69G>C (p.Leu23=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 1459081	NM_001173990.3(TMEM216):c.75del (p.Phe25_Leu26insTer)	TMEM216	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 1094522	NM_001173990.3(TMEM216):c.75T>C (p.Phe25=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2696810	NM_001173990.3(TMEM216):c.76C>T (p.Leu26=)	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2058473	NM_001173990.3(TMEM216):c.77T>A (p.Leu26Gln)	TMEM216 (L26Q)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 2962936	NM_001173990.3(TMEM216):c.81C>T (p.Asn27=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 1597919	NM_001173990.3(TMEM216):c.84G>C (p.Gly28=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 1130055	NM_001173990.3(TMEM216):c.84G>A (p.Gly28=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2679220	NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)	TMEM216 (W29*)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 2	GLikely pathogenic
Select item 1073194	NM_001173990.3(TMEM216):c.87G>A (p.Trp29Ter)	TMEM216 (W29*)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +1 more	GPathogenic/Likely pathogenic
Select item 1983295	NM_001173990.3(TMEM216):c.91A>G (p.Asn31Asp)	TMEM216 (N31D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2200512	NM_001173990.3(TMEM216):c.101A>G (p.Tyr34Cys)	TMEM216 (Y34C)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2129608	NM_001173990.3(TMEM216):c.108G>A (p.Leu36=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2826643	NM_001173990.3(TMEM216):c.109C>T (p.Leu37=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2041257	NM_001173990.3(TMEM216):c.111G>A (p.Leu37=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2679226	NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)	TMEM216 (E38*)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 2	GLikely pathogenic
Select item 597583	NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly)	TMEM216 (E38G)	Single nucleotide variant (missense variant +1 more)	TMEM216-related disorder +2 more	GUncertain significance
Select item 1144202	NM_001173990.3(TMEM216):c.114A>G (p.Glu38=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 1418959	NM_001173990.3(TMEM216):c.118_119del (p.Phe40fs)	TMEM216 (F40fs)	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 1042412	NM_001173990.3(TMEM216):c.121A>G (p.Ile41Val)	TMEM216 (I41V)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 700949	NM_001173990.3(TMEM216):c.123A>C (p.Ile41=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 498870	NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 1139555	NM_001173990.3(TMEM216):c.132T>C (p.Tyr44=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2763295	NM_001173990.3(TMEM216):c.136+2T>G	TMEM216	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis	GLikely pathogenic
Select item 1080923	NM_001173990.3(TMEM216):c.136+7_136+10del	TMEM216	Microsatellite (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 1528490	NM_001173990.3(TMEM216):c.136+7A>G	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign

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