"GeneDx"[submitter] AND "WIPF1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 1263797	NM_001375834.1(WIPF1):c.1456+91G>C	WIPF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1229378	NM_001375834.1(WIPF1):c.1343-145C>T	WIPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287708	NM_001375834.1(WIPF1):c.1343-187C>T	WIPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403608	NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu)	WIPF1 (P198L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1233423	NM_001375834.1(WIPF1):c.358+238dup	WIPF1	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1222354	NM_001375834.1(WIPF1):c.358+238_358+239dup	WIPF1	Duplication (intron variant)	not provided	GBenign
Select item 252518	NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser)	WIPF1 (G70S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1277441	NM_001375834.1(WIPF1):c.182-208C>T	WIPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 253337	GRCh37/hg19 2q31.1(chr2:174586724-176423918)x1	ATF2, ATP5MC3 +9 more	Copy number loss	See cases	GLikely pathogenic