ClinVar for MedGen (Select 42531) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997075	GRCh37/hg19 22q11.21(chr22:21075575-21454721)	AIFM3, CRKL +7 more	Copy number loss	Hydronephrosis +1 more	GLikely pathogenic
Select item 638159	NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)	TBX4 (W134*)	Single nucleotide variant (nonsense)	Aplasia/hypoplasia involving bones of the lower limbs +5 more	GPathogenic
Select item 617640	NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)	FLNA (R1312C)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +5 more	GConflicting classifications of pathogenicity
Select item 599008	NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro)	GATA4 (A32P)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +11 more	GUncertain significance
Select item 599007	NM_006494.4(ERF):c.1636C>T (p.Arg546Ter)	ERF (R546* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +11 more	GUncertain significance
Select item 598996	NM_000379.4(XDH):c.1172C>T (p.Pro391Leu)	XDH (P391L)	Single nucleotide variant (missense variant)	Protein-losing enteropathy +9 more	GUncertain significance
Select item 598973	NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)	WFS1 (Q667*)	Single nucleotide variant (nonsense)	not provided +20 more	GPathogenic/Likely pathogenic
Select item 598972	NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)	KIF1A (H917Y +7 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +22 more	GUncertain significance
Select item 598971	NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	CHN1 (A223T +3 more)	Single nucleotide variant (missense variant +1 more)	See cases +19 more	GLikely pathogenic
Select item 523513	NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg)	SETBP1 (G872R)	Single nucleotide variant (missense variant)	Atrial septal defect +7 more	GLikely pathogenic
Select item 335760	NM_000379.4(XDH):c.3647C>A (p.Pro1216His)	XDH (P1216H)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +12 more	GConflicting classifications of pathogenicity
Select item 267941	46;XY;inv(6)(p22q13)dn		Inversion	Hypotonia +22 more	GPathogenic
Select item 242885	NM_138425.4(C12orf57):c.53-2A>G	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	Temtamy syndrome	GPathogenic