ClinVar for MedGen (Select 52469) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684654	Single allele	IDH3G, PDZD4 +200 more	Deletion	Immunodeficiency 33 +5 more	GPathogenic
Select item 932238	NM_022575.4(VPS16):c.540G>T (p.Trp180Cys)	VPS16 (W180C)	Single nucleotide variant (missense variant)	Neutropenia +3 more	GUncertain significance
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 586963	NM_001282225.2(ADA2):c.144dup (p.Arg49fs)	ADA2 (R7fs +1 more)	Duplication (frameshift variant +1 more)	Splenomegaly +3 more	GPathogenic/Likely pathogenic
Select item 523417	NM_032638.5(GATA2):c.971A>G (p.Lys324Arg)	GATA2 (K324R)	Single nucleotide variant (missense variant)	Anemia +4 more	GUncertain significance
Select item 523313	NM_000043.6(FAS):c.536T>G (p.Leu179Arg)	FAS (L179R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 449095	NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	SBDS (K62*)	Single nucleotide variant (nonsense)	Intellectual disability +8 more	GPathogenic/Likely pathogenic
Select item 68290	NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)	SLC37A4 (N27K)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 48648	NM_032415.7(CARD11):c.367G>A (p.Gly123Ser)	CARD11, CARD11-AS1 (G123S)	Single nucleotide variant (missense variant)	BENTA disease +5 more	GPathogenic
Select item 15655	NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)	HBA2, HBA1 +1 more (L137P)	Single nucleotide variant (missense variant)	Splenomegaly +1 more	GPathogenic
Select item 14662	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	INSL6, JAK2 (V617F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 3196	NM_016038.4(SBDS):c.258+2T>C	SBDS	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +11 more	GPathogenic/Likely pathogenic