ClinVar for MedGen (Select 107860) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374170	NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)	IGHMBP2 (G61R)	Single nucleotide variant (missense variant)	Progressive muscle weakness +6 more	GConflicting classifications of pathogenicity
Select item 374169	NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)	IGHMBP2 (R320*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +6 more	GPathogenic/Likely pathogenic
Select item 288385	NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr)	COL6A3 (A2787T +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +8 more	GConflicting classifications of pathogenicity
Select item 268005	46;XX;t(8;14)(q21.2;q12)dn		Translocation	Hypoplasia of the frontal lobes +11 more	GLikely pathogenic
Select item 267935	46;XX;inv(6)(p24q11)dn		Inversion	Microcephaly +5 more	GUncertain significance
Select item 267933	46;XY;t(1;14)(p21.2;q11.2)dn;t(4;10)(p13;q11.2)dn		Translocation	Severe global developmental delay +4 more	GLikely pathogenic
Select item 267905	46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dn		Translocation	Posteriorly placed tongue +17 more	GLikely pathogenic
Select item 267874	46;XX;inv(2)(p23q31.3)		Inversion	Microcephaly +3 more	GPathogenic
Select item 267836	46;XY;t(1;6)(q23;q13)dn		Translocation	Gastrostomy tube feeding in infancy +12 more	GUncertain significance
Select item 267815	46;X;t(X;5)(p11.23;q35)dn		Translocation	High myopia +14 more	GPathogenic
Select item 265316	NM_001367721.1(CASK):c.2521-2A>G	CASK	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1 (L95P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypotonia +2 more	GPathogenic/Likely pathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic
Select item 204815	NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)	ADSL (R141W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 204807	NM_000026.4(ADSL):c.340T>C (p.Tyr114His)	ADSL (Y114H +1 more)	Single nucleotide variant (missense variant +1 more)	Adenylosuccinate lyase deficiency +7 more	GPathogenic
Select item 1147	NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	BBS12 (R355*)	Single nucleotide variant (nonsense)	Abnormal cardiovascular system morphology +5 more	GPathogenic