"GeneDx"[submitter] AND "TMEM138"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305054	NM_016464.4(TMEM138):c.-239C>T	TMEM138	Single nucleotide variant	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
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 305060	NM_016464.5(TMEM138):c.-24G>A	TMEM138	Single nucleotide variant (intron variant +1 more)	Joubert syndrome 16 +1 more	GBenign
Select item 437008	NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser)	TMEM138 (N25S)	Single nucleotide variant (non-coding transcript variant +2 more)	Joubert syndrome 16 +2 more	GUncertain significance
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 1210849	NM_016464.5(TMEM138):c.129-126G>A	TMEM138	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 429352	NM_016464.5(TMEM138):c.136G>C (p.Asp46His)	TMEM138 (D46H)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 16 +1 more	GUncertain significance
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 130586	NM_016464.5(TMEM138):c.261G>A (p.Val87=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16 +1 more	GBenign
Select item 31188	NM_016464.5(TMEM138):c.287A>G (p.His96Arg)	TMEM138 (H96R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 305063	NM_016464.5(TMEM138):c.327C>T (p.Ser109=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	TMEM138-related condition +2 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 1187955	NM_016464.5(TMEM138):c.376+134G>A	TMEM138	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270997	NM_016464.5(TMEM138):c.376+207T>C	TMEM138	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199016	NM_016464.5(TMEM138):c.376+214TTTG[8]	TMEM138	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1235953	NM_016464.5(TMEM138):c.376+214TTTG[6]	TMEM138	Microsatellite (intron variant)	not provided	GBenign
Select item 1258456	NM_016464.5(TMEM138):c.376+288G>T	TMEM138	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 389311	NM_016464.5(TMEM138):c.377-11C>T	TMEM138	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 382230	NM_016464.5(TMEM138):c.377-8C>G	TMEM138	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 305065	NM_016464.5(TMEM138):c.387G>A (p.Leu129=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1192960	NM_016464.5(TMEM138):c.*229C>G	TMEM138	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign

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Items: 28