ClinVar for MedGen (Select 65991) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233357	NM_001035006.5(RPL17):c.452del (p.Thr151fs)	RPL17, RPL17-C18orf32 (T113fs +3 more)	Deletion (frameshift variant)	Autism +9 more	GLikely pathogenic
Select item 577672	NM_012452.3(TNFRSF13B):c.58C>T (p.Arg20Cys)	TNFRSF13B (R20C)	Single nucleotide variant (missense variant)	not provided +12 more	GUncertain significance
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 411584	NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	SYNGAP1, SYNGAP1-AS1 (R687*)	Single nucleotide variant (nonsense)	See cases +15 more	GPathogenic/Likely pathogenic
Select item 268026	46;XX;t(7;14)(p15;q24)dn		Translocation	Anteriorly placed anus +13 more	GUncertain significance
Select item 268019	46;XY;t(1;4)(q32;q11)		Translocation	Narrow nasal base +9 more	GUncertain significance
Select item 267857	46;XX;inv(5)(q14q35)dn		Inversion	Global developmental delay +14 more	GPathogenic
Select item 267797	46;XX;inv(2)(p11q13)dn		Inversion	Prominent forehead +9 more	GUncertain significance
Select item 159398	NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	NSD1 (R2017Q +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome +16 more	GPathogenic/Likely pathogenic
Select item 13978	NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	BRAF (E501G +7 more)	Single nucleotide variant (missense variant)	not provided +13 more	GPathogenic/Likely pathogenic
Select item 13271	NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)	FGFR2 (S347C +3 more)	Single nucleotide variant (missense variant +2 more)	Pfeiffer syndrome +25 more	GPathogenic/Likely pathogenic
Select item 8813	NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp)	BMPR2 (G182D)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database