STX19[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155713	GRCh38/hg38 3q11.1-11.2(chr3:93800620-94792824)x3	ARL13B, DHFR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 148990	GRCh38/hg38 3q11.1-11.2(chr3:93808831-94785647)x3	ARL13B, DHFR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 144282	GRCh38/hg38 3q11.1-11.2(chr3:93856441-94708419)x3	ARL13B, DHFR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 154553	GRCh38/hg38 3q11.1-11.2(chr3:93856445-94026979)x3	ARL13B, LOC123002313 +4 more	Copy number gain	See cases	GUncertain significance
Select item 150280	GRCh38/hg38 3q11.1-11.2(chr3:93856445-94039745)x3	ARL13B, LOC123002313 +4 more	Copy number gain	See cases	GLikely benign
Select item 472995	NC_000003.12:g.(?_93874239)_(94053268_?)del	LOC129937098, LOC129937099 +4 more	Deletion	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3024628	GRCh37/hg19 3q11.1-11.2(chr3:93519764-95321276)x3	ARL13B, DHFR2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2422858	NC_000003.11:g.(?_93593089)_(93772107_?)dup	ARL13B, PROS1 +1 more	Duplication	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 1808663	GRCh37/hg19 3q11.1-11.2(chr3:93519465-94372131)x1	ARL13B, DHFR2 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 1683409	NC_000003.11:g.(?_93698982)_(93774523_?)dup	ARL13B, STX19	Duplication	not specified	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527031	GRCh37/hg19 3q11.1-11.2(chr3:93519464-94500476)	ARL13B, DHFR2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527030	GRCh37/hg19 3q11.1(chr3:93519464-93743920)	ARL13B, PROS1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1457416	NC_000003.11:g.(?_93593089)_(93845334_?)del	ARL13B, DHFR2 +3 more	Deletion	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 833008	NC_000003.12:g.(?_93973674)_(94126490_?)dup	ARL13B, DHFR2 +3 more	Duplication	Joubert syndrome 8	GUncertain significance
Select item 831583	NC_000003.12:g.(?_93874245)_(94015269_?)dup	ARL13B, PROS1 +1 more	Duplication	Joubert syndrome 8	GUncertain significance
Select item 813267	Single allele	ARL13B, DHFR2 +3 more	Deletion	Protein S deficiency disease +1 more	GLikely pathogenic
Select item 688251	GRCh37/hg19 3q11.1(chr3:93519464-93756719)x3	ARL13B, PROS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562795	GRCh37/hg19 3q11.1(chr3:93519464-93767476)x3	STX19, PROS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253850	GRCh37/hg19 3q11.1(chr3:93617407-93747377)x3	ARL13B, PROS1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253784	GRCh37/hg19 3q11.1(chr3:93592858-93747377)x3	ARL13B, STX19 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 44