ClinVar for MedGen (Select 19766) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570654	NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)	WNK3 (R1287fs +1 more)	Duplication (frameshift variant)	Motor stereotypies +8 more	GLikely pathogenic
Select item 1706640	NM_032199.3(ARID5B):c.1302del (p.Asn434fs)	ARID5B (N191fs +1 more)	Deletion (frameshift variant)	Blue sclerae +7 more	GUncertain significance
Select item 638278	NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	NSD2 (E1099K)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +14 more	GConflicting classifications of pathogenicity
Select item 523360	NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp)	ABCC8 (G342W +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +13 more	GConflicting classifications of pathogenicity
Select item 369680	NM_002296.4(LBR):c.1747C>T (p.Arg583Ter)	LBR (R583*)	Single nucleotide variant (nonsense)	Pelger-Huët anomaly +6 more	GConflicting classifications of pathogenicity
Select item 268030	46;XY;t(10;17)(p13;q23)dn		Translocation	Cleft soft palate +13 more	GUncertain significance
Select item 268011	46;XX;t(17;22)(q23;q12.2)dn		Translocation	Arachnodactyly +10 more	GUncertain significance
Select item 267961	46;XY;t(4;14)(p15.1;q13)		Translocation	Retrognathia +2 more	GUncertain significance
Select item 242882	NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)	ANKRD11 (E1773*)	Single nucleotide variant (nonsense)	Hypertelorism +9 more	GPathogenic

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