"GeneDx"[submitter] AND "SLMAP"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1262629	NM_001377540.1(SLMAP):c.-133G>A	SLMAP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 516748	NM_001377540.1(SLMAP):c.-42=	SLMAP	Single nucleotide variant (no sequence alteration +1 more)	not specified	GLikely benign
Select item 1268180	NM_001377540.1(SLMAP):c.346+238A>G	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296356	NM_001377540.1(SLMAP):c.347-172G>A	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233161	NM_001377540.1(SLMAP):c.347-142A>G	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235285	NM_001377540.1(SLMAP):c.419+167A>G	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233467	NM_001377540.1(SLMAP):c.420-101C>T	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231251	NM_001377540.1(SLMAP):c.519+202T>A	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246542	NM_001377540.1(SLMAP):c.687+205A>G	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260135	NM_001377540.1(SLMAP):c.828+11C>A	SLMAP	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1263201	NM_001377540.1(SLMAP):c.828+285del	SLMAP	Deletion (intron variant)	not provided	GBenign
Select item 1263735	NM_001377540.1(SLMAP):c.829-153T>C	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280335	NM_001377540.1(SLMAP):c.1360+104T>C	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2429708	NM_001377540.1(SLMAP):c.1441+107dup	SLMAP	Duplication (intron variant)	not provided	GLikely benign
Select item 516749	NM_001377540.1(SLMAP):c.1443C>T (p.Asp481=)	SLMAP	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 1264515	NM_001377540.1(SLMAP):c.1502-104A>G	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287512	NM_001377540.1(SLMAP):c.1624+310T>C	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 57729	GRCh38/hg38 3p14.3(chr3:57911290-58409928)x3	ABHD6, DNASE1L3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1282824	NM_001377540.1(SLMAP):c.1700-297T>A	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298253	NM_001377540.1(SLMAP):c.1700-223A>G	SLMAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 240722	NM_001377540.1(SLMAP):c.1968T>A (p.Leu656=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1810066	NM_001377540.1(SLMAP):c.2138+175del	SLMAP	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 416635	NM_001377540.1(SLMAP):c.2145G>A (p.Gln715=)	SLMAP	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1318335	NM_001377540.1(SLMAP):c.2310+232A>T	SLMAP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1257777	NM_001377540.1(SLMAP):c.2311-13del	SLMAP	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1244743	NM_001377540.1(SLMAP):c.*7-157dup	SLMAP	Duplication (intron variant)	not provided	GBenign
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 27