Related gene-specific medical variations for Gene (Select 126806253) - ClinVar

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Items: 32

	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 2826557	NM_213622.4(STAMBP):c.203+12A>G	LOC126806253, STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787464	NM_213622.4(STAMBP):c.203+8A>T	LOC126806253, STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2576825	NM_213622.4(STAMBP):c.32C>T (p.Pro11Leu)	LOC126806253, STAMBP (P11L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2488165	NM_213622.4(STAMBP):c.190A>G (p.Asn64Asp)	LOC126806253, STAMBP (N64D)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2198812	NM_213622.4(STAMBP):c.186C>G (p.Leu62=)	LOC126806253, STAMBP	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1950585	NM_213622.4(STAMBP):c.67A>G (p.Ser23Gly)	LOC126806253, STAMBP (S23G)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1936077	NM_213622.4(STAMBP):c.34G>A (p.Glu12Lys)	LOC126806253, STAMBP (E12K)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1719223	NM_213622.4(STAMBP):c.83A>G (p.Asn28Ser)	LOC126806253, STAMBP (N28S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1671599	NM_213622.4(STAMBP):c.171A>G (p.Glu57=)	LOC126806253, STAMBP	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1558282	NM_213622.4(STAMBP):c.72G>A (p.Ala24=)	LOC126806253, STAMBP	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 1509503	NM_213622.4(STAMBP):c.12T>A (p.His4Gln)	LOC126806253, STAMBP (H4Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1493517	NM_213622.4(STAMBP):c.197A>T (p.Tyr66Phe)	LOC126806253, STAMBP (Y66F)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1472454	NM_213622.4(STAMBP):c.87A>C (p.Glu29Asp)	LOC126806253, STAMBP (E29D)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1469518	NM_213622.4(STAMBP):c.59A>G (p.Gln20Arg)	LOC126806253, STAMBP (Q20R)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 1412908	NM_213622.4(STAMBP):c.29C>T (p.Pro10Leu)	LOC126806253, STAMBP (P10L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1409709	NM_213622.4(STAMBP):c.71C>T (p.Ala24Val)	LOC126806253, STAMBP (A24V)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1398534	NM_213622.4(STAMBP):c.41G>A (p.Arg14Gln)	LOC126806253, STAMBP (R14Q)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1367249	NM_213622.4(STAMBP):c.14G>A (p.Gly5Glu)	LOC126806253, STAMBP (G5E)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1364920	NM_213622.4(STAMBP):c.203+5G>A	LOC126806253, STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1360305	NM_213622.4(STAMBP):c.49G>C (p.Ala17Pro)	LOC126806253, STAMBP (A17P)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1351413	NM_213622.4(STAMBP):c.100C>T (p.Arg34Cys)	LOC126806253, STAMBP (R34C)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1333643	NM_213622.4(STAMBP):c.112C>G (p.Arg38Gly)	LOC126806253, STAMBP (R38G)	Single nucleotide variant (missense variant +3 more)	Microcephaly-capillary malformation syndrome +1 more	GUncertain significance
Select item 1298814	NM_213622.4(STAMBP):c.188A>G (p.Tyr63Cys)	LOC126806253, STAMBP (Y63C)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1194103	NM_213622.4(STAMBP):c.-12-276C>T	LOC126806253, STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 711304	NM_213622.4(STAMBP):c.183C>T (p.Ile61=)	LOC126806253, STAMBP	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 286829	NM_213622.4(STAMBP):c.106_108delinsAA (p.Tyr36fs)	LOC126806253, STAMBP (Y36fs)	Indel (frameshift variant +3 more)	not provided	GPathogenic
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 50793	NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)	LOC126806253, STAMBP (R38C)	Single nucleotide variant (missense variant +3 more)	Microcephaly-capillary malformation syndrome +1 more	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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Links from Gene

Items: 32