ClinVar for MedGen (Select 481926) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068194	NM_213622.4(STAMBP):c.113G>A (p.Arg38His)	LOC126806253, STAMBP (R38H)	Single nucleotide variant (missense variant +3 more)	Microcephaly-capillary malformation syndrome	GUncertain significance
Select item 2690758	NM_213622.4(STAMBP):c.1006-2A>T	STAMBP	Single nucleotide variant (splice acceptor variant)	Microcephaly-capillary malformation syndrome	GLikely pathogenic
Select item 2690164	NM_213622.4(STAMBP):c.767A>T (p.His256Leu)	STAMBP (H121L +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly-capillary malformation syndrome	GUncertain significance
Select item 2690163	NM_213622.4(STAMBP):c.1011C>T (p.His337=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	Microcephaly-capillary malformation syndrome	GUncertain significance
Select item 2671751	NM_213622.4(STAMBP):c.824C>G (p.Thr275Ser)	STAMBP (T140S +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly-capillary malformation syndrome	GUncertain significance
Select item 2637512	NM_213622.4(STAMBP):c.5_6dup (p.Asp3fs)	LOC126806253, STAMBP (D3fs)	Duplication (frameshift variant +3 more)	Microcephaly-capillary malformation syndrome	GPathogenic
Select item 1333643	NM_213622.4(STAMBP):c.112C>G (p.Arg38Gly)	STAMBP, LOC126806253 (R38G)	Single nucleotide variant (missense variant +3 more)	Microcephaly-capillary malformation syndrome +1 more	GUncertain significance
Select item 1034283	NM_213622.4(STAMBP):c.843_844del (p.Cys282fs)	STAMBP (C282fs +1 more)	Deletion (frameshift variant +1 more)	Microcephaly-capillary malformation syndrome	GPathogenic
Select item 1034282	NM_213622.4(STAMBP):c.475C>G (p.Gln159Glu)	STAMBP (Q24E +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly-capillary malformation syndrome	GUncertain significance
Select item 1034281	NM_213622.4(STAMBP):c.218A>G (p.Lys73Arg)	STAMBP (K73R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 813809	NM_213622.4(STAMBP):c.946G>A (p.Glu316Lys)	STAMBP (E316K +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly-capillary malformation syndrome	GUncertain significance
Select item 715248	NM_213622.4(STAMBP):c.33C>T (p.Pro11=)	LOC126806253, STAMBP	Single nucleotide variant (synonymous variant +3 more)	Microcephaly-capillary malformation syndrome +2 more	GLikely benign
Select item 492960	NM_213622.4(STAMBP):c.707C>T (p.Ser236Phe)	STAMBP (S236F +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly-capillary malformation syndrome	GPathogenic
Select item 436881	NM_213622.4(STAMBP):c.649C>T (p.Gln217Ter)	STAMBP (Q217* +1 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly-capillary malformation syndrome	GPathogenic
Select item 436880	NM_213622.4(STAMBP):c.764G>A (p.Arg255His)	STAMBP (R255H +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly-capillary malformation syndrome +2 more	GConflicting classifications of pathogenicity
Select item 212320	NM_213622.4(STAMBP):c.1119-6T>G	STAMBP	Single nucleotide variant (intron variant)	Microcephaly-capillary malformation syndrome	GLikely pathogenic
Select item 160046	NM_213622.4(STAMBP):c.921G>T (p.Gly307=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	Microcephaly-capillary malformation syndrome +1 more	GBenign
Select item 160045	NM_213622.4(STAMBP):c.499G>A (p.Glu167Lys)	STAMBP (E167K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 160044	NM_213622.4(STAMBP):c.12T>C (p.His4=)	LOC126806253, STAMBP	Single nucleotide variant (synonymous variant +3 more)	Microcephaly-capillary malformation syndrome +1 more	GBenign
Select item 160043	NM_213622.4(STAMBP):c.1259_1261del (p.Ile420del)	STAMBP (I420del +1 more)	Deletion (inframe_deletion +2 more)	not provided +1 more	GUncertain significance
Select item 160042	NM_213622.4(STAMBP):c.1230C>T (p.His410=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	Microcephaly-capillary malformation syndrome	GUncertain significance
Select item 50797	NM_213622.4(STAMBP):c.411del (p.Ile138fs)	STAMBP (I3fs +1 more)	Deletion (frameshift variant +1 more)	Microcephaly-capillary malformation syndrome	GPathogenic
Select item 50796	NM_213622.4(STAMBP):c.299T>A (p.Phe100Tyr)	STAMBP (F100Y)	Single nucleotide variant (missense variant +2 more)	Microcephaly-capillary malformation syndrome	GPathogenic
Select item 50795	NM_213622.4(STAMBP):c.1270C>T (p.Arg424Ter)	STAMBP (R424* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 50794	NM_213622.4(STAMBP):c.279+5G>T	STAMBP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 50793	NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)	LOC126806253, STAMBP (R38C)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 50792	NM_213622.4(STAMBP):c.532C>T (p.Arg178Ter)	STAMBP (R178* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 50791	NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly)	LOC126806253, STAMBP (E42G)	Single nucleotide variant (missense variant +3 more)	Microcephaly-capillary malformation syndrome	GLikely pathogenic

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Items: 28