ARL5C[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 3315157	NM_001143968.1(ARL5C):c.499G>A (p.Ala167Thr)	ARL5C (A167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561154	NM_001143968.1(ARL5C):c.487G>A (p.Glu163Lys)	ARL5C (E163K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213354	NM_001143968.1(ARL5C):c.452C>T (p.Ser151Leu)	ARL5C (S151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315167	NM_001143968.1(ARL5C):c.299T>C (p.Leu100Pro)	ARL5C (L100P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129565	NM_001143968.1(ARL5C):c.292C>T (p.Arg98Trp)	ARL5C (R98W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129564	NM_001143968.1(ARL5C):c.281C>T (p.Thr94Met)	ARL5C (T94M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384610	NM_001143968.1(ARL5C):c.104G>A (p.Arg35Gln)	ARL5C (R35Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399233	NM_001143968.1(ARL5C):c.32T>A (p.Ile11Asn)	ARL5C (I11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 688925	GRCh37/hg19 17q12(chr17:37190609-37868002)x3	ARL5C, CACNB1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	not provided	GUncertain significance
Select item 443556	GRCh37/hg19 17q12(chr17:37313691-37868516)x3	ARL5C, CACNB1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic