ClinVar for MedGen (Select 67453) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1174579	NM_005585.5(SMAD6):c.1285A>T (p.Lys429Ter)	SMAD6 (K429*)	Single nucleotide variant (nonsense +1 more)	Radioulnar synostosis +3 more	GPathogenic
Select item 1174575	NM_005585.5(SMAD6):c.572T>C (p.Leu191Pro)	SMAD6 (L191P)	Single nucleotide variant (missense variant +1 more)	Plagiocephaly +4 more	GConflicting classifications of pathogenicity
Select item 599005	NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs)	LOC102724058, SCN1A (S1110fs +5 more)	Duplication (non-coding transcript variant +1 more)	Polymicrogyria +11 more	GPathogenic
Select item 598985	NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)	GNS (P532A)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D +22 more	GUncertain significance
Select item 598959	NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)	CREBBP (R1868Q +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +12 more	GPathogenic/Likely pathogenic
Select item 598958	NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile)	COL5A2 (M614I)	Single nucleotide variant (missense variant)	High palate +9 more	GUncertain significance
Select item 577672	NM_012452.3(TNFRSF13B):c.58C>T (p.Arg20Cys)	TNFRSF13B (R20C)	Single nucleotide variant (missense variant)	Immunoglobulin A deficiency 2 +11 more	GUncertain significance
Select item 523309	GRCh37/hg19 Xq13.1(chrX:68058460-68059931)	EFNB1	Copy number loss	Frontal bossing +2 more	GPathogenic
Select item 268026	46;XX;t(7;14)(p15;q24)dn		Translocation	Anteriorly placed anus +13 more	GUncertain significance
Select item 267924	46;XY;t(16;20)(q23.1;p11.22)		Translocation	Hyperhydroxyprolinemia +24 more	GUncertain significance
Select item 267922	46;XY;ins(7;10)(q32;q22.1q24.3);t(9;16)(q22;q12.1)dn		Translocation	Athetosis +14 more	GUncertain significance
Select item 8813	NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp)	BMPR2 (G182D)	Single nucleotide variant (missense variant)	Abnormal basal ganglia morphology +11 more	GConflicting classifications of pathogenicity
Select item 432	NM_000110.4(DPYD):c.1905+1G>A	DPYD	Single nucleotide variant (splice donor variant)	tegafur response - Toxicity +3 more	Gdrug response