C3280906[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 260747	NM_016464.5(TMEM138):c.216C>T (p.Asn72=)	TMEM138	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 16 +1 more	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)	not provided +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 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 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 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 880047	NM_016464.5(TMEM138):c.379G>T (p.Ala127Ser)	TMEM138 (A69S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
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 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 877257	NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu)	TMEM138 (K155E +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 305067	NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln)	TMEM138 (R161Q +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 16	GConflicting classifications of pathogenicity
Select item 305068	NM_016464.5(TMEM138):c.*92G>C	TMEM138	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 305069	NM_016464.5(TMEM138):c.*228C>G	TMEM138	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 305070	NM_016464.5(TMEM138):c.*264C>G	TMEM138	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 877258	NM_016464.5(TMEM138):c.*354C>G	TMEM138	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 305071	NM_016464.5(TMEM138):c.*407G>C	TMEM138	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 878301	NM_016464.5(TMEM138):c.*547C>T	TMEM138	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance
Select item 878302	NM_016464.5(TMEM138):c.*548G>A	TMEM138	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 16	GUncertain significance

ClinVar

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Items: 27