RSL24D1[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 151013	GRCh38/hg38 15q21.3(chr15:54998301-55749136)x3	CCPG1, DNAAF4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2462029	NM_016304.3(RSL24D1):c.438A>T (p.Glu146Asp)	RSL24D1 (E146D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156675	NM_016304.3(RSL24D1):c.412C>T (p.Leu138Phe)	RSL24D1 (L138F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280884	NM_016304.3(RSL24D1):c.401T>C (p.Ile134Thr)	RSL24D1 (I134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289305	NM_016304.3(RSL24D1):c.395A>G (p.His132Arg)	RSL24D1 (H132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287202	NM_016304.3(RSL24D1):c.306G>T (p.Lys102Asn)	RSL24D1 (K102N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279277	NM_016304.3(RSL24D1):c.275C>T (p.Ala92Val)	RSL24D1 (A92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156674	NM_016304.3(RSL24D1):c.244C>G (p.Gln82Glu)	RSL24D1 (Q82E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315546	NM_016304.3(RSL24D1):c.227A>G (p.Asn76Ser)	RSL24D1 (N76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542303	NM_016304.3(RSL24D1):c.57G>A (p.Met19Ile)	RSL24D1 (M19I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606990	NM_016304.3(RSL24D1):c.16T>C (p.Cys6Arg)	RSL24D1 (C6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 1809173	GRCh37/hg19 15q21.3(chr15:55346224-55967397)x3	CCPG1, DNAAF4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815720	GRCh37/hg19 15q21.3(chr15:55453040-55510474)x1	RAB27A, RSL24D1	Copy number loss	not provided	GUncertain significance
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564202	GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3	LYSMD2, ARPP19 +36 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 226247	GRCh37/hg19 15q21.3(chr15:55354493-55956320)	RAB27A, PYGO1 +6 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 31