ClinVar for MedGen (Select 350933) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068050	NM_020928.2(ZSWIM6):c.3407C>A (p.Ala1136Asp)	ZSWIM6 (A1136D)	Single nucleotide variant (missense variant)	Acromelic frontonasal dysostosis	GUncertain significance
Select item 2444153	NM_020928.2(ZSWIM6):c.1760G>C (p.Arg587Thr)	ZSWIM6 (R587T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1806114	NM_020928.2(ZSWIM6):c.2248G>A (p.Gly750Arg)	ZSWIM6 (G750R)	Single nucleotide variant (missense variant)	Acromelic frontonasal dysostosis	GUncertain significance
Select item 1636238	NM_020928.2(ZSWIM6):c.498A>G (p.Ala166=)	ZSWIM6	Single nucleotide variant (synonymous variant)	Acromelic frontonasal dysostosis +2 more	GLikely benign
Select item 1489110	NM_020928.2(ZSWIM6):c.31G>A (p.Ala11Thr)	ZSWIM6 (A11T)	Single nucleotide variant (missense variant)	Acromelic frontonasal dysostosis +1 more	GUncertain significance
Select item 1472897	NM_020928.2(ZSWIM6):c.79_96dup (p.Ser27_Gly32dup)	ZSWIM6	Duplication (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 1469970	NM_020928.2(ZSWIM6):c.1781A>G (p.Asn594Ser)	ZSWIM6 (N594S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1049368	NM_020928.2(ZSWIM6):c.1472A>G (p.Asn491Ser)	ZSWIM6 (N491S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1033559	NM_020928.2(ZSWIM6):c.683A>G (p.His228Arg)	ZSWIM6 (H228R)	Single nucleotide variant (missense variant)	Acromelic frontonasal dysostosis	GUncertain significance
Select item 1033558	NM_020928.2(ZSWIM6):c.1991T>C (p.Met664Thr)	ZSWIM6 (M664T)	Single nucleotide variant (missense variant)	Acromelic frontonasal dysostosis +1 more	GUncertain significance
Select item 1029795	NM_020928.2(ZSWIM6):c.2281C>T (p.Arg761Trp)	ZSWIM6 (R761W)	Single nucleotide variant (missense variant)	Acromelic frontonasal dysostosis +1 more	GUncertain significance
Select item 931663	NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup)	ZSWIM6	Microsatellite (inframe_insertion)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 789474	NM_020928.2(ZSWIM6):c.1722C>T (p.Asp574=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 585031	NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met)	ZSWIM6 (V636M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 548607	NM_020928.2(ZSWIM6):c.440_454del (p.Ala147_Gly151del)	ZSWIM6	Deletion (inframe_deletion)	Acromelic frontonasal dysostosis	GUncertain significance
Select item 155772	NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)	ZSWIM6 (R1163W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic