"GeneDx"[submitter] AND "SLIT2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2412958	NM_004787.4(SLIT2):c.242T>A (p.Leu81Gln)	SLIT2 (L81Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503158	NM_004787.4(SLIT2):c.635A>T (p.Tyr212Phe)	SLIT2 (Y212F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372913	NM_004787.4(SLIT2):c.685C>G (p.Arg229Gly)	SLIT2 (R229G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1261326	NM_004787.4(SLIT2):c.1059-12T>C	SLIT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579574	NM_004787.4(SLIT2):c.3350T>C (p.Met1117Thr)	SLIT2 (M1109T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801212	NM_004787.4(SLIT2):c.4475G>A (p.Cys1492Tyr)	SLIT2 (C1484Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 253400	GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	LAP3, CC2D2A +71 more	Copy number gain	See cases	GPathogenic
Select item 3361223	NM_004787.4(SLIT2):c.38T>C (p.Leu13Pro)	SLIT2 (L13P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance