"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "TMEM138 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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	GConflicting classifications of pathogenicity
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)	Joubert syndrome 16 +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 16 +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 2149912	NM_016464.5(TMEM138):c.128+19T>G	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	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 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 +1 more	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	GConflicting classifications of pathogenicity
Select item 287964	NM_016464.5(TMEM138):c.247A>G (p.Ile83Val)	TMEM138 (I83V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16 +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 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 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 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/Likely pathogenic
Select item 2056392	NM_016464.5(TMEM138):c.307C>G (p.Arg103Gly)	TMEM138 (R45G +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 2046391	NM_016464.5(TMEM138):c.307del (p.Arg103fs)	TMEM138 (R45fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 16 +1 more	GPathogenic/Likely pathogenic
Select item 1401571	NM_016464.5(TMEM138):c.307C>T (p.Arg103Cys)	TMEM138 (R45C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 305062	NM_016464.5(TMEM138):c.308G>A (p.Arg103His)	TMEM138 (R103H +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1982443	NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)	TMEM138 (W46* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 16	GPathogenic
Select item 1513723	NM_016464.5(TMEM138):c.311G>T (p.Trp104Leu)	TMEM138 (W104L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1410314	NM_016464.5(TMEM138):c.317A>T (p.Asn106Ile)	TMEM138 (N106I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 2083693	NM_016464.5(TMEM138):c.322A>G (p.Asn108Asp)	TMEM138 (N50D +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 305063	NM_016464.5(TMEM138):c.327C>T (p.Ser109=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305064	NM_016464.5(TMEM138):c.352A>T (p.Met118Leu)	TMEM138 (M118L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16 +1 more	GUncertain significance
Select item 2125017	NM_016464.5(TMEM138):c.359T>A (p.Phe120Tyr)	TMEM138 (F62Y +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1973060	NM_016464.5(TMEM138):c.377-19T>C	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GLikely benign
Select item 389311	NM_016464.5(TMEM138):c.377-11C>T	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16 +1 more	GLikely benign
Select item 1351401	NM_016464.5(TMEM138):c.377-3C>T	TMEM138	Single nucleotide variant (intron variant)	Joubert syndrome 16	GUncertain significance
Select item 1356604	NM_016464.5(TMEM138):c.377C>T (p.Ala126Val)	TMEM138 (A68V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 2698117	NM_016464.5(TMEM138):c.384G>A (p.Val128=)	TMEM138	Single nucleotide variant (synonymous variant +3 more)	Joubert syndrome 16	GLikely benign
Select item 305065	NM_016464.5(TMEM138):c.387G>A (p.Leu129=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16 +1 more	GBenign/Likely benign
Select item 31191	NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)	TMEM138 (Y130C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16 +1 more	GConflicting classifications of pathogenicity
Select item 1516213	NM_016464.5(TMEM138):c.392G>C (p.Cys131Ser)	TMEM138 (C73S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 852535	NM_016464.5(TMEM138):c.406C>T (p.Arg136Trp)	TMEM138 (R136W +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16 +1 more	GUncertain significance
Select item 1638765	NM_016464.5(TMEM138):c.414C>T (p.Ala138=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 837999	NM_016464.5(TMEM138):c.415G>A (p.Val139Ile)	TMEM138 (V139I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16 +2 more	GConflicting classifications of pathogenicity
Select item 305066	NM_016464.5(TMEM138):c.420A>G (p.Arg140=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16	GConflicting classifications of pathogenicity
Select item 1445668	NM_016464.5(TMEM138):c.426C>T (p.Gly142=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16	GLikely benign
Select item 1995866	NM_016464.5(TMEM138):c.430_439del (p.Pro144fs)	TMEM138 (P144fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1347735	NM_016464.5(TMEM138):c.431C>T (p.Pro144Leu)	TMEM138 (P86L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 2073863	NM_016464.5(TMEM138):c.435C>T (p.His145=)	TMEM138	Single nucleotide variant (synonymous variant +3 more)	Joubert syndrome 16	GLikely benign
Select item 2122104	NM_016464.5(TMEM138):c.448T>A (p.Ser150Thr)	TMEM138 (S150T +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1993171	NM_016464.5(TMEM138):c.449C>G (p.Ser150Cys)	TMEM138 (S150C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1488772	NM_016464.5(TMEM138):c.451_452del (p.Leu151fs)	TMEM138 (L151fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 2010354	NM_016464.5(TMEM138):c.454T>A (p.Trp152Arg)	TMEM138 (W152R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 1352515	NM_016464.5(TMEM138):c.457C>G (p.Leu153Val)	TMEM138 (L95V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 2144723	NM_016464.5(TMEM138):c.459G>A (p.Leu153=)	TMEM138	Single nucleotide variant (synonymous variant +3 more)	Joubert syndrome 16	GLikely benign
Select item 2152797	NM_016464.5(TMEM138):c.460C>T (p.Arg154Cys)	TMEM138 (R154C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 570566	NM_016464.5(TMEM138):c.461G>A (p.Arg154His)	TMEM138 (R154H +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GConflicting classifications of pathogenicity

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