ClinVar for MedGen (Select 57721) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570678	NM_016642.4(SPTBN5):c.1288C>T (p.Arg430Cys)	SPTBN5 (R430C)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +4 more	GUncertain significance
Select item 2537941	NM_016642.4(SPTBN5):c.8419G>A (p.Glu2807Lys)	SPTBN5 (E2807K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 559443	NM_006295.3(VARS1):c.3214T>C (p.Phe1072Leu)	VARS1 (F1072L)	Single nucleotide variant (missense variant)	Microcephaly +7 more	GConflicting classifications of pathogenicity
Select item 559442	NM_006295.3(VARS1):c.65C>A (p.Ala22Asp)	VARS1 (A22D)	Single nucleotide variant (missense variant)	Generalized hypotonia +5 more	GUncertain significance
Select item 523532	NM_022489.4(INF2):c.3247A>G (p.Ser1083Gly)	INF2 (S1083G)	Single nucleotide variant (missense variant)	Birth length less than 3rd percentile +7 more	GUncertain significance
Select item 523348	NM_001042492.3(NF1):c.6109G>A (p.Ala2037Thr)	NF1 (A2016T +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 374175	NM_004278.4(PIGL):c.176C>A (p.Pro59His)	PIGL (P59H)	Single nucleotide variant (missense variant)	CHIME syndrome +8 more	GUncertain significance
Select item 268042	46;XY;t(18;20)(q21.1;p11.23)dn		Translocation	Chin with horizontal crease +26 more	GUncertain significance
Select item 210306	NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)	ARID1B (R1990* +5 more)	Single nucleotide variant (nonsense)	Dysphagia +12 more	GPathogenic
Select item 30544	NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	PIGL (L167P)	Single nucleotide variant (missense variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +3 more	GPathogenic
Select item 17326	NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)	COL1A1 (G593S)	Single nucleotide variant (missense variant)	Skeletal dysplasia +28 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 9641	NC_012920.1:m.8993T>G	MT-ND4L, MT-ND5 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database