693[HGNC] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129551	NM_001667.4(ARL2):c.29T>C (p.Met10Thr)	ARL2, ARL2-SNX15 +1 more (M10T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 983502	NM_001667.4(ARL2):c.44G>T (p.Arg15Leu)	ARL2, ARL2-SNX15 +1 more (R15L)	Single nucleotide variant (non-coding transcript variant +1 more)	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1	GPathogenic
Select item 3129550	NM_001667.4(ARL2):c.118G>A (p.Asp40Asn)	ARL2, ARL2-SNX15 (D40N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2480801	NM_001667.4(ARL2):c.124G>A (p.Asp42Asn)	ARL2, ARL2-SNX15 (D42N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2334969	NM_001667.4(ARL2):c.221G>A (p.Arg74Gln)	ARL2, ARL2-SNX15 (R74Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2406706	NM_001667.4(ARL2):c.287G>A (p.Arg96His)	ARL2, ARL2-SNX15 (R96H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3129552	NM_001667.4(ARL2):c.316C>A (p.Leu106Ile)	ARL2, ARL2-SNX15 (L106I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2393174	NM_001667.4(ARL2):c.416G>A (p.Arg139His)	ARL2, ARL2-SNX15 (R139H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3351658	NM_001667.4(ARL2):c.417C>T (p.Arg139=)	ARL2, ARL2-SNX15	Single nucleotide variant (synonymous variant +1 more)	ARL2-related condition	GLikely benign
Select item 2234319	NM_001667.4(ARL2):c.419A>T (p.Glu140Val)	ARL2, ARL2-SNX15 (E140V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462426	NM_001667.4(ARL2):c.442C>T (p.Arg148Cys)	ARL2, ARL2-SNX15 (R121C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406741	NM_001667.4(ARL2):c.443G>A (p.Arg148His)	ARL2, ARL2-SNX15 (R148H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315048	NM_001667.4(ARL2):c.478G>A (p.Val160Ile)	ARL2, ARL2-SNX15 (V133I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307491	NM_001667.4(ARL2):c.500C>T (p.Pro167Leu)	ARL2, ARL2-SNX15 (P140L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	GPHA2, POLA2 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 687992	GRCh37/hg19 11q13.1(chr11:64396501-64883447)x3	ARL2, ATG2A +21 more	Copy number gain	not provided	GUncertain significance
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 26