SLC50A1[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 3320006	NM_018845.4(SLC50A1):c.49G>C (p.Val17Leu)	SLC50A1 (G3A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3320007	NM_018845.4(SLC50A1):c.307A>G (p.Thr103Ala)	SLC50A1 (T48A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3165165	NM_018845.4(SLC50A1):c.338G>A (p.Gly113Asp)	SLC50A1 (G113D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464270	NM_018845.4(SLC50A1):c.374G>A (p.Arg125Gln)	SLC50A1 (R118Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515240	NM_018845.4(SLC50A1):c.509T>G (p.Leu170Arg)	SLC50A1 (L115R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307031	NM_018845.4(SLC50A1):c.604T>C (p.Phe202Leu)	SLC50A1 (F147L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 22