Related gene-specific medical variations for Gene (Select 9353) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685960	GRCh37/hg19 4p15.31(chr4:19242239-20475165)x3	SLIT2	Copy number gain	not provided	GUncertain significance
Select item 1809377	GRCh37/hg19 4p15.31(chr4:20043475-20281330)x4	SLIT2	Copy number gain	not provided	GUncertain significance
Select item 684624	NM_004787.4(SLIT2):c.2712A>T (p.Lys904Asn)	SLIT2 (K896N +2 more)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GPathogenic
Select item 684623	NM_004787.4(SLIT2):c.292G>A (p.Ala98Thr)	SLIT2 (A98T)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GPathogenic
Select item 591830	NM_004787.4(SLIT2):c.3610G>T (p.Asp1204Tyr)	SLIT2 (D1204Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591690	NM_004787.4(SLIT2):c.151A>G (p.Arg51Gly)	SLIT2 (R51G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591413	NM_004787.4(SLIT2):c.4334dup (p.Asp1445fs)	SLIT2 (D1437fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 442343	GRCh37/hg19 4p15.31(chr4:19744024-20355050)x1	SLIT2	Copy number loss	See cases	GUncertain significance

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