ClinVar for Gene (Select 415117) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2515922	NM_001001850.3(STX19):c.83C>T (p.Thr28Ile)	ARL13B, STX19 (T28I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511305	NM_001001850.3(STX19):c.461C>A (p.Thr154Lys)	ARL13B, STX19 (T154K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482026	NM_001001850.3(STX19):c.854G>A (p.Cys285Tyr)	ARL13B, STX19 (C285Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481060	NM_001001850.3(STX19):c.173A>T (p.Gln58Leu)	ARL13B, STX19 (Q58L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2345608	NM_001001850.3(STX19):c.757A>G (p.Thr253Ala)	STX19, ARL13B (T253A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319991	NM_001001850.3(STX19):c.235G>A (p.Val79Met)	STX19, ARL13B (V79M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286403	NM_001001850.3(STX19):c.743A>G (p.Asn248Ser)	ARL13B, STX19 (N248S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251843	NM_001001850.3(STX19):c.201T>A (p.Asn67Lys)	STX19, ARL13B (N67K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 472995	NC_000003.12:g.(?_93874239)_(94053268_?)del	ARL13B, LOC123002313 +4 more	Deletion	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +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
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 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	ABI3BP, ADGRG7 +171 more	Copy number gain	See cases	GLikely pathogenic
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 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
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 148990	GRCh38/hg38 3q11.1-11.2(chr3:93808831-94785647)x3	ARL13B, DHFR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 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 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 42