ClinVar for MedGen (Select 1613834) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572996	NM_017613.4(DONSON):c.129_144dup (p.Leu49fs)	DONSON (L49fs)	Duplication (frameshift variant)	Microcephaly, short stature, and limb abnormalities	GPathogenic
Select item 1173061	NM_017613.4(DONSON):c.494T>C (p.Phe165Ser)	DONSON (F165S)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1033429	NM_017613.4(DONSON):c.919A>G (p.Ile307Val)	DONSON (I307V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029476	NM_017613.4(DONSON):c.642C>G (p.Phe214Leu)	DONSON (F214L)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and limb abnormalities	GUncertain significance
Select item 977879	NM_017613.4(DONSON):c.1146C>G (p.Ile382Met)	DONSON (I382M)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and limb abnormalities	GLikely benign
Select item 587636	NM_017613.4(DONSON):c.1563+1G>T	DONSON	Single nucleotide variant (splice donor variant)	Microcephaly, short stature, and limb abnormalities +1 more	GPathogenic
Select item 585009	NM_017613.3(DONSON):c.[1466A>C];[536_540delCACAG]			Microcephaly, short stature, and limb abnormalities	GLikely pathogenic
Select item 521608	NM_017613.4(DONSON):c.1254dup (p.Lys419Ter)	DONSON (K419*)	Duplication (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 488493	NM_017613.4(DONSON):c.683G>A (p.Trp228Ter)	DONSON (W228*)	Single nucleotide variant (nonsense)	Microcephaly, short stature, and limb abnormalities	GPathogenic
Select item 431446	NM_017613.4(DONSON):c.82A>C (p.Ser28Arg)	DONSON (S28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 431445	NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)	DONSON (K489T)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and limb abnormalities +7 more	GConflicting classifications of pathogenicity
Select item 431420	NM_017613.4(DONSON):c.876C>G (p.Phe292Leu)	DONSON (F292L)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and limb abnormalities	GPathogenic
Select item 431419	NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter)	DONSON (Q428*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 431418	NM_017613.4(DONSON):c.1251_1256del (p.Asn417_Ser418del)	DONSON	Deletion (inframe_deletion)	Microcephaly, short stature, and limb abnormalities	GPathogenic
Select item 431417	NM_017613.3(DONSON):c.[1466A>C;786-33A>G82A>C]	DONSON (K489T +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly, short stature, and limb abnormalities	GPathogenic
Select item 431416	NM_017613.4(DONSON):c.786-22A>G	DONSON	Single nucleotide variant (intron variant)	Microcephaly-micromelia syndrome	GLikely pathogenic
Select item 431415	NM_017613.4(DONSON):c.1337T>C (p.Met446Thr)	DONSON (M446T)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and limb abnormalities	GPathogenic
Select item 431414	NM_017613.4(DONSON):c.1047-9A>G	DONSON	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity