"GeneDx"[submitter] AND "SPRY4"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 1292770	NM_001127496.3(SPRY4):c.*181G>A	SPRY4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1227299	NM_001127496.3(SPRY4):c.*98G>C	SPRY4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2575861	NM_001127496.3(SPRY4):c.892C>G (p.Pro298Ala)	SPRY4 (P298A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663549	NM_001127496.3(SPRY4):c.886G>A (p.Asp296Asn)	SPRY4 (D296N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500630	NM_001127496.3(SPRY4):c.819C>G (p.Cys273Trp)	SPRY4 (C273W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052425	NM_001127496.3(SPRY4):c.772G>A (p.Val258Met)	SPRY4 (V258M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 50874	NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr)	SPRY4 (S241Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1305355	NM_001127496.3(SPRY4):c.401A>G (p.Lys134Arg)	SPRY4 (K134R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731541	NM_001127496.3(SPRY4):c.231G>A (p.Thr77=)	SPRY4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 727400	NM_001127496.3(SPRY4):c.25G>A (p.Ala9Thr)	SPRY4 (A9T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1262633	NM_001127496.3(SPRY4):c.-47-4672C>T	SPRY4	Single nucleotide variant (intron variant)	not provided	GBenign