TMEM138[gene] - 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 305046	NM_016464.4(TMEM138):c.-520_-518delTCC	CYB561A3, TMEM138	Deletion (5 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 305047	NM_016464.4(TMEM138):c.-518C>T	CYB561A3, TMEM138	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 305048	NM_016464.4(TMEM138):c.-479A>C	CYB561A3, TMEM138	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 305049	NM_016464.4(TMEM138):c.-350A>C	CYB561A3, TMEM138	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 305050	NM_016464.4(TMEM138):c.-308A>G	CYB561A3, TMEM138	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis	GLikely benign
Select item 305051	NM_016464.4(TMEM138):c.-304C>A	TMEM138, CYB561A3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 305052	NM_016464.4(TMEM138):c.-294G>A	TMEM138, CYB561A3	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 305053	NM_016464.4(TMEM138):c.-255C>T	TMEM138	Single nucleotide variant	Familial aplasia of the vermis	GUncertain significance
Select item 305054	NM_016464.4(TMEM138):c.-239C>T	TMEM138	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305055	NM_016464.4(TMEM138):c.-226C>G	TMEM138	Single nucleotide variant	Familial aplasia of the vermis	GUncertain significance
Select item 305056	NM_016464.5(TMEM138):c.-169C>T	TMEM138	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 305057	NM_016464.5(TMEM138):c.-164T>C	TMEM138	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 305058	NM_016464.5(TMEM138):c.-157C>G	TMEM138	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1197627	NM_016464.5(TMEM138):c.-139-267C>T	TMEM138	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253941	NM_016464.5(TMEM138):c.-139-106A>G	TMEM138	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 305059	NM_016464.5(TMEM138):c.-71G>A	TMEM138	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 879682	NM_016464.5(TMEM138):c.-55G>A	TMEM138	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 3044895	NM_016464.5(TMEM138):c.-28C>T	TMEM138	Single nucleotide variant (5 prime UTR variant +1 more)	TMEM138-related disorder	GLikely benign
Select item 305060	NM_016464.5(TMEM138):c.-24G>A	TMEM138	Single nucleotide variant (intron variant +1 more)	Joubert syndrome 16 +1 more	GBenign
Select item 879683	NM_016464.5(TMEM138):c.-23G>A	TMEM138	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 879684	NM_016464.5(TMEM138):c.-17G>A	TMEM138	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1653182	NM_016464.5(TMEM138):c.12C>T (p.Thr4=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16	GLikely benign
Select item 1522390	NM_016464.5(TMEM138):c.13A>G (p.Ser5Gly)	TMEM138 (S5G)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 2820754	NM_016464.5(TMEM138):c.24C>T (p.Ser8=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16	GLikely benign
Select item 1386914	NM_016464.5(TMEM138):c.35C>A (p.Ser12Tyr)	TMEM138 (S12Y)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 2131040	NM_016464.5(TMEM138):c.45C>T (p.Phe15=)	TMEM138	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 16	GLikely benign
Select item 579554	NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys)	TMEM138 (S19C)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 16	GUncertain significance
Select item 3235049	NM_016464.5(TMEM138):c.63C>G (p.Asp21Glu)	TMEM138 (D21E)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 16	GUncertain significance
Select item 2498514	NM_016464.5(TMEM138):c.66_69del (p.Phe23fs)	TMEM138 (F23fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 437008	NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser)	TMEM138 (N25S)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 2172887	NM_016464.5(TMEM138):c.76T>G (p.Ser26Ala)	TMEM138 (S26A)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 16	GUncertain significance
Select item 2106749	NM_016464.5(TMEM138):c.80T>C (p.Phe27Ser)	TMEM138 (F27S)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 16	GUncertain significance
Select item 1102738	NM_016464.5(TMEM138):c.81C>T (p.Phe27=)	TMEM138	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 16	GLikely benign
Select item 1501736	NM_016464.5(TMEM138):c.82T>G (p.Ser28Ala)	TMEM138 (S28A)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 16	GUncertain significance
Select item 1424816	NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer)	TMEM138	Deletion (nonsense +2 more)	Joubert syndrome 16	GPathogenic
Select item 1458178	NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter)	TMEM138 (Q32*)	Single nucleotide variant (nonsense +2 more)	Joubert syndrome 16	GPathogenic
Select item 767006	NM_016464.5(TMEM138):c.102T>A (p.Thr34=)	TMEM138	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1574476	NM_016464.5(TMEM138):c.105T>C (p.Pro35=)	TMEM138	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 16	GLikely benign
Select item 1204836	NM_016464.5(TMEM138):c.128+3G>T	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16 +1 more	GUncertain significance
Select item 31187	NM_016464.5(TMEM138):c.128+5G>A	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome and related disorders +2 more	GPathogenic/Likely pathogenic
Select item 1603070	NM_016464.5(TMEM138):c.128+7G>T	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 727420	NM_016464.5(TMEM138):c.128+8C>T	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 305061	NM_016464.5(TMEM138):c.128+15G>A	TMEM138	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GUncertain significance
Select item 2149912	NM_016464.5(TMEM138):c.128+19T>G	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 1210849	NM_016464.5(TMEM138):c.129-126G>A	TMEM138	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608033	NM_016464.5(TMEM138):c.129-20A>T	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 2076591	NM_016464.5(TMEM138):c.129-11dup	TMEM138	Duplication (intron variant)	Joubert syndrome 16	GBenign
Select item 1571888	NM_016464.5(TMEM138):c.129-19C>T	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 1375997	NM_016464.5(TMEM138):c.129-19C>G	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GUncertain significance
Select item 1596271	NM_016464.5(TMEM138):c.129-18T>A	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 1539989	NM_016464.5(TMEM138):c.129-10dup	TMEM138	Duplication (intron variant)	Joubert syndrome 16	GLikely benign
Select item 2197757	NM_016464.5(TMEM138):c.129-10A>G	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 1580765	NM_016464.5(TMEM138):c.129-8G>T	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 1574659	NM_016464.5(TMEM138):c.129-4A>G	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 1961844	NM_016464.5(TMEM138):c.129-3C>T	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GUncertain significance
Select item 266092	NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg)	TMEM138 (Q45R)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome	GLikely pathogenic
Select item 429352	NM_016464.5(TMEM138):c.136G>C (p.Asp46His)	TMEM138 (D46H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2199672	NM_016464.5(TMEM138):c.166A>G (p.Ile56Val)	TMEM138 (I56V)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 16	GUncertain significance
Select item 2132895	NM_016464.5(TMEM138):c.176T>G (p.Met59Arg)	TMEM138 (M59R +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 16	GUncertain significance
Select item 1403150	NM_016464.5(TMEM138):c.187A>G (p.Thr63Ala)	TMEM138 (T5A +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1533329	NM_016464.5(TMEM138):c.192C>T (p.Phe64=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16	GLikely benign
Select item 472885	NM_016464.5(TMEM138):c.193G>A (p.Val65Ile)	TMEM138 (V65I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1673503	NM_016464.5(TMEM138):c.195C>T (p.Val65=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16	GLikely benign
Select item 1360404	NM_016464.5(TMEM138):c.196T>C (p.Phe66Leu)	TMEM138 (F66L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 2132403	NM_016464.5(TMEM138):c.199C>G (p.Gln67Glu)	TMEM138 (Q67E +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1390807	NM_016464.5(TMEM138):c.203C>A (p.Ala68Asp)	TMEM138 (A10D +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1562133	NM_016464.5(TMEM138):c.204T>C (p.Ala68=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16	GLikely benign
Select item 1951264	NM_016464.5(TMEM138):c.207C>T (p.Gly69=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16	GLikely benign
Select item 1360135	NM_016464.5(TMEM138):c.209T>A (p.Leu70Gln)	TMEM138 (L12Q +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 260747	NM_016464.5(TMEM138):c.216C>T (p.Asn72=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1492296	NM_016464.5(TMEM138):c.217C>T (p.Leu73Phe)	TMEM138 (L15F +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1501313	NM_016464.5(TMEM138):c.227A>G (p.His76Arg)	TMEM138 (H18R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 2134428	NM_016464.5(TMEM138):c.230A>T (p.Lys77Met)	TMEM138 (K19M +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1644414	NM_016464.5(TMEM138):c.231G>A (p.Lys77=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16	GLikely benign
Select item 287964	NM_016464.5(TMEM138):c.247A>G (p.Ile83Val)	TMEM138 (I83V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1355832	NM_016464.5(TMEM138):c.248T>C (p.Ile83Thr)	TMEM138 (I25T +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 3326791	NM_016464.5(TMEM138):c.253A>T (p.Thr85Ser)	TMEM138 (T27S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 130586	NM_016464.5(TMEM138):c.261G>A (p.Val87=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16 +2 more	GBenign
Select item 880046	NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg)	TMEM138 (S34R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1605251	NM_016464.5(TMEM138):c.276C>T (p.Ser92=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16	GLikely benign
Select item 1353903	NM_016464.5(TMEM138):c.281C>G (p.Ser94Cys)	TMEM138 (S36C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 31188	NM_016464.5(TMEM138):c.287A>G (p.His96Arg)	TMEM138 (H96R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16 +1 more	GPathogenic/Likely pathogenic
Select item 2010707	NM_016464.5(TMEM138):c.288T>C (p.His96=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16	GLikely benign
Select item 1139248	NM_016464.5(TMEM138):c.300+13G>A	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 1539819	NM_016464.5(TMEM138):c.300+17G>A	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 1209450	NM_016464.5(TMEM138):c.300+235CTTTT[4]	TMEM138	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1215550	NM_016464.5(TMEM138):c.300+238T>C	TMEM138	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205334	NM_016464.5(TMEM138):c.300+270dup	TMEM138	Duplication (intron variant)	not provided	GLikely benign
Select item 1208101	NM_016464.5(TMEM138):c.300+284G>A	TMEM138	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671928	NM_016464.5(TMEM138):c.300+292G>A	TMEM138	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667551	NM_016464.5(TMEM138):c.301-266A>G	TMEM138	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2873201	NM_016464.5(TMEM138):c.301-18A>G	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 1912783	NM_016464.5(TMEM138):c.301-16C>T	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 1930109	NM_016464.5(TMEM138):c.301-13A>G	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 2722238	NM_016464.5(TMEM138):c.301-12C>T	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 1584302	NM_016464.5(TMEM138):c.301-9C>A	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 1642631	NM_016464.5(TMEM138):c.303C>T (p.Asn101=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16	GLikely benign
Select item 2018227	NM_016464.5(TMEM138):c.306dup (p.Arg103fs)	TMEM138 (R103fs +1 more)	Duplication (frameshift variant +1 more)	Joubert syndrome 16	GPathogenic
Select item 1505578	NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs)	TMEM138 (R103fs +1 more)	Duplication (frameshift variant +1 more)	Joubert syndrome 16	GPathogenic

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