TMEM237[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 58817	GRCh38/hg38 2q33.1(chr2:201537291-201896769)x1	ALS2, C2CD6 +11 more	Copy number loss	See cases	GPathogenic
Select item 584058	NC_000002.12:g.(?_201618900)_(201647825_?)del	C2CD6, LOC129935416 +3 more	Deletion	Joubert syndrome 14	GPathogenic
Select item 333527	NM_001044385.3(TMEM237):c.*4020T>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 897636	NM_001044385.3(TMEM237):c.*3997A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 897637	NM_001044385.3(TMEM237):c.*3992A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333528	NM_001044385.3(TMEM237):c.*3855A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333529	NM_001044385.3(TMEM237):c.*3728A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333530	NM_001044385.3(TMEM237):c.*3697G>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 898801	NM_001044385.3(TMEM237):c.*3517A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333531	NM_001044385.3(TMEM237):c.*3513del	TMEM237	Deletion (3 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 333532	NM_001044385.3(TMEM237):c.*3453T>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 333533	NM_001044385.3(TMEM237):c.*3385C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333534	NM_001044385.3(TMEM237):c.*3372C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 898802	NM_001044385.3(TMEM237):c.*3350A>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 898803	NM_001044385.3(TMEM237):c.*3124A>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 898804	NM_001044385.3(TMEM237):c.*3123T>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333535	NM_001044385.3(TMEM237):c.*3013A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 895839	NM_001044385.3(TMEM237):c.*2964T>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333536	NM_001044385.3(TMEM237):c.*2960C>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333537	NM_001044385.3(TMEM237):c.*2719G>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 333538	NM_001044385.3(TMEM237):c.*2682G>C	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 895840	NM_001044385.3(TMEM237):c.*2670C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 895841	NM_001044385.3(TMEM237):c.*2652A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 895842	NM_001044385.3(TMEM237):c.*2626T>C	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333539	NM_001044385.3(TMEM237):c.*2582G>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 896114	NM_001044385.3(TMEM237):c.*2495C>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333540	NM_001044385.3(TMEM237):c.*2480T>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 333541	NM_001044385.3(TMEM237):c.*2465A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 896115	NM_001044385.3(TMEM237):c.*2448C>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333542	NM_001044385.3(TMEM237):c.*2431T>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 896116	NM_001044385.3(TMEM237):c.*2349C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 896117	NM_001044385.3(TMEM237):c.*2307A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 897710	NM_001044385.3(TMEM237):c.*2180G>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 333543	NM_001044385.3(TMEM237):c.*2142G>C	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 333544	NM_001044385.3(TMEM237):c.*2141C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 897711	NM_001044385.3(TMEM237):c.*2137A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 333545	NM_001044385.3(TMEM237):c.*2044T>C	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 897712	NM_001044385.3(TMEM237):c.*1975C>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 897713	NM_001044385.3(TMEM237):c.*1965G>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 897714	NM_001044385.3(TMEM237):c.*1890G>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 898867	NM_001044385.3(TMEM237):c.*1879G>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 898868	NM_001044385.3(TMEM237):c.*1835C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333546	NM_001044385.3(TMEM237):c.*1762G>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 898869	NM_001044385.3(TMEM237):c.*1655G>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 898870	NM_001044385.3(TMEM237):c.*1606T>C	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333547	NM_001044385.3(TMEM237):c.*1603T>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 898871	NM_001044385.3(TMEM237):c.*1588G>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14 +1 more	GLikely benign
Select item 898872	NM_001044385.3(TMEM237):c.*1561G>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 895901	NM_001044385.3(TMEM237):c.*1560C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 895902	NM_001044385.3(TMEM237):c.*1489G>C	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GBenign
Select item 895903	NM_001044385.3(TMEM237):c.*1436G>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 895904	NM_001044385.3(TMEM237):c.*1382C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333548	NM_001044385.3(TMEM237):c.*1378A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 895905	NM_001044385.3(TMEM237):c.*1330C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333549	NM_001044385.3(TMEM237):c.*1303G>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333550	NM_001044385.3(TMEM237):c.*1151C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 896184	NM_001044385.3(TMEM237):c.*1148A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333551	NM_001044385.3(TMEM237):c.*1108A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333552	NM_001044385.3(TMEM237):c.*1107C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 896185	NM_001044385.3(TMEM237):c.*1008A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333553	NM_001044385.3(TMEM237):c.*987C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 896186	NM_001044385.3(TMEM237):c.*969A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14 +1 more	GConflicting classifications of pathogenicity
Select item 896187	NM_001044385.3(TMEM237):c.*962A>C	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14 +1 more	GConflicting classifications of pathogenicity
Select item 896188	NM_001044385.3(TMEM237):c.*940A>C	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 897786	NM_001044385.3(TMEM237):c.*895C>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 897787	NM_001044385.3(TMEM237):c.*781G>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 333554	NM_001044385.3(TMEM237):c.714_715del	TMEM237	Deletion (3 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 897788	NM_001044385.3(TMEM237):c.*663G>C	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 897789	NM_001044385.3(TMEM237):c.*634C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 897790	NM_001044385.3(TMEM237):c.*564T>C	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GBenign
Select item 333555	NM_001044385.3(TMEM237):c.*492T>C	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333556	NM_001044385.3(TMEM237):c.470_473del	TMEM237	Deletion (3 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 897791	NM_001044385.3(TMEM237):c.*439G>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GLikely benign
Select item 333557	NM_001044385.3(TMEM237):c.*308T>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 898929	NM_001044385.3(TMEM237):c.*303C>T	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333558	NM_001044385.3(TMEM237):c.*283A>C	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 333559	NM_001044385.3(TMEM237):c.*258del	TMEM237	Deletion (3 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 898930	NM_001044385.3(TMEM237):c.*74T>C	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 898931	NM_001044385.3(TMEM237):c.*62A>G	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 898932	NM_001044385.3(TMEM237):c.*3C>A	TMEM237	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 14	GUncertain significance
Select item 1969726	NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe)	TMEM237 (S407F +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14	GUncertain significance
Select item 779813	NM_001044385.3(TMEM237):c.1218C>G (p.Ala406=)	TMEM237	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948356	NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp)	TMEM237 (A398D +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 14 +1 more	GUncertain significance
Select item 836965	NM_001044385.3(TMEM237):c.1215del (p.Ala406fs)	TMEM237 (A398fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 14	GUncertain significance
Select item 772675	NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=)	TMEM237	Single nucleotide variant (synonymous variant)	Joubert syndrome 14	GLikely benign
Select item 1517378	NM_001044385.3(TMEM237):c.1203_1208del (p.400KE[1])	TMEM237	Deletion (inframe_deletion)	Joubert syndrome 14	GUncertain significance
Select item 2628766	NM_001044385.3(TMEM237):c.1207G>T (p.Glu403Ter)	TMEM237 (E395* +1 more)	Single nucleotide variant (nonsense)	TMEM237-related disorder	GUncertain significance

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