Related gene-specific medical variations for Gene (Select 200894) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323467	NM_001001850.3(STX19):c.416C>A (p.Ala139Glu)	ARL13B, STX19 (A139E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246903	NC_000003.11:g.(?_93754155)_(93755618_?)del	ARL13B	Deletion	Joubert syndrome 8	GPathogenic
Select item 3171751	NM_001001850.3(STX19):c.601G>A (p.Glu201Lys)	ARL13B, STX19 (E201K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171750	NM_001001850.3(STX19):c.44T>C (p.Ile15Thr)	ARL13B, STX19 (I15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171749	NM_001001850.3(STX19):c.445T>C (p.Phe149Leu)	ARL13B, STX19 (F149L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171748	NM_001001850.3(STX19):c.424C>T (p.Arg142Cys)	ARL13B, STX19 (R142C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171747	NM_001001850.3(STX19):c.251G>C (p.Arg84Thr)	ARL13B, STX19 (R84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171746	NM_001001850.3(STX19):c.233T>C (p.Leu78Pro)	ARL13B, STX19 (L78P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515922	NM_001001850.3(STX19):c.83C>T (p.Thr28Ile)	ARL13B, STX19 (T28I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511305	NM_001001850.3(STX19):c.461C>A (p.Thr154Lys)	ARL13B, STX19 (T154K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482026	NM_001001850.3(STX19):c.854G>A (p.Cys285Tyr)	ARL13B, STX19 (C285Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481060	NM_001001850.3(STX19):c.173A>T (p.Gln58Leu)	ARL13B, STX19 (Q58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345608	NM_001001850.3(STX19):c.757A>G (p.Thr253Ala)	ARL13B, STX19 (T253A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319991	NM_001001850.3(STX19):c.235G>A (p.Val79Met)	ARL13B, STX19 (V79M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286403	NM_001001850.3(STX19):c.743A>G (p.Asn248Ser)	ARL13B, STX19 (N248S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251843	NM_001001850.3(STX19):c.201T>A (p.Asn67Lys)	ARL13B, STX19 (N67K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1704628	NC_000003.11:g.93714775_(93722753_93754174)del	ARL13B	Deletion	Joubert syndrome and related disorders	GLikely pathogenic
Select item 425302	NM_001174150.2(ARL13B):c.625C>T (p.Arg209Cys)	ARL13B (R209C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 263014	NM_001174150.2(ARL13B):c.380+36G>A	ARL13B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 217551	NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly)	ARL13B (V22G)	Single nucleotide variant (missense variant +3 more)	Joubert syndrome 8	GPathogenic

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Links from Gene

Items: 20