10617[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 1194103	NM_213622.4(STAMBP):c.-12-276C>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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 286829	NM_213622.4(STAMBP):c.106_108delinsAA (p.Tyr36fs)	LOC126806253, STAMBP (Y36fs)	Indel (frameshift variant +3 more)	not provided	GPathogenic
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 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 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 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
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 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 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 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 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 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 1364920	NM_213622.4(STAMBP):c.203+5G>A	LOC126806253, STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2787464	NM_213622.4(STAMBP):c.203+8A>T	LOC126806253, STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826557	NM_213622.4(STAMBP):c.203+12A>G	LOC126806253, STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970739	NM_213622.4(STAMBP):c.204-5C>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895049	NM_213622.4(STAMBP):c.207C>T (p.Leu69=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1956089	NM_213622.4(STAMBP):c.207C>G (p.Leu69=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2183831	NM_213622.4(STAMBP):c.212T>C (p.Ile71Thr)	STAMBP (I71T)	Single nucleotide variant (missense variant +2 more)	not provided	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 424125	NM_213622.4(STAMBP):c.230A>G (p.His77Arg)	STAMBP (H77R)	Single nucleotide variant (missense variant +2 more)	STAMBP-related disorder +1 more	GLikely pathogenic
Select item 817554	NM_213622.4(STAMBP):c.232C>T (p.Arg78Ter)	STAMBP (R78*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 2122219	NM_213622.4(STAMBP):c.234A>C (p.Arg78=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2122600	NM_213622.4(STAMBP):c.243A>C (p.Lys81Asn)	STAMBP (K81N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2589115	NM_213622.4(STAMBP):c.256C>A (p.Pro86Thr)	STAMBP (P86T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2175326	NM_213622.4(STAMBP):c.257C>T (p.Pro86Leu)	STAMBP (P86L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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 1901811	NM_213622.4(STAMBP):c.279+18T>C	STAMBP	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1219150	NM_213622.4(STAMBP):c.279+43G>A	STAMBP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1209403	NM_213622.4(STAMBP):c.279+51G>A	STAMBP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3015239	NM_213622.4(STAMBP):c.280-10T>C	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2352109	NM_213622.4(STAMBP):c.301C>T (p.Pro101Ser)	STAMBP (P101S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2901329	NM_213622.4(STAMBP):c.318G>C (p.Leu106=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2020273	NM_213622.4(STAMBP):c.321G>A (p.Lys107=)	STAMBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1451758	NM_213622.4(STAMBP):c.337C>T (p.Arg113Ter)	STAMBP (R113*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2651030	NM_213622.4(STAMBP):c.348A>G (p.Lys116=)	STAMBP	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1722947	NM_213622.4(STAMBP):c.348A>C (p.Lys116Asn)	STAMBP (K116N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3170908	NM_213622.4(STAMBP):c.362A>G (p.Tyr121Cys)	STAMBP (Y121C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 425204	NM_213622.4(STAMBP):c.362A>T (p.Tyr121Phe)	STAMBP (Y121F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2798543	NM_213622.4(STAMBP):c.375+7A>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564825	NM_213622.4(STAMBP):c.375+9A>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674398	NM_213622.4(STAMBP):c.375+12A>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186187	NM_213622.4(STAMBP):c.375+77A>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296945	NM_213622.4(STAMBP):c.376-290_376-289dup	STAMBP	Duplication (intron variant)	not provided	GBenign
Select item 1263436	NM_213622.4(STAMBP):c.376-291_376-289dup	STAMBP	Duplication (intron variant)	not provided	GBenign
Select item 1212104	NM_213622.4(STAMBP):c.376-306C>A	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199068	NM_213622.4(STAMBP):c.376-289dup	STAMBP	Duplication (intron variant)	not provided	GLikely benign
Select item 1196026	NM_213622.4(STAMBP):c.376-289del	STAMBP	Deletion (intron variant)	not provided	GLikely benign
Select item 1630252	NM_213622.4(STAMBP):c.376-13T>C	STAMBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 723819	NM_213622.4(STAMBP):c.376-4G>A	STAMBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1946139	NM_213622.4(STAMBP):c.376-3T>G	STAMBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2868747	NM_213622.4(STAMBP):c.398C>T (p.Ala133Val)	STAMBP (A133V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1439399	NM_213622.4(STAMBP):c.400C>T (p.Arg134Trp)	STAMBP (R134W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2167484	NM_213622.4(STAMBP):c.401G>A (p.Arg134Gln)	STAMBP (R134Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2189868	NM_213622.4(STAMBP):c.406A>G (p.Met136Val)	STAMBP (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2336139	NM_213622.4(STAMBP):c.409G>A (p.Ala137Thr)	STAMBP (A2T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1337743	NM_213622.4(STAMBP):c.414C>G (p.Ile138Met)	STAMBP (I138M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 837152	NM_213622.4(STAMBP):c.418C>T (p.Gln140Ter)	STAMBP (Q140* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2046847	NM_213622.4(STAMBP):c.424C>G (p.Leu142Val)	STAMBP (L142V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2069879	NM_213622.4(STAMBP):c.443G>A (p.Arg148Lys)	STAMBP (R13K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1513047	NM_213622.4(STAMBP):c.457A>G (p.Lys153Glu)	STAMBP (K153E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 722352	NM_213622.4(STAMBP):c.465G>T (p.Gln155His)	STAMBP (Q20H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2526692	NM_213622.4(STAMBP):c.470T>G (p.Leu157Trp)	STAMBP (L157W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2028025	NM_213622.4(STAMBP):c.487dup (p.His163fs)	STAMBP (H163fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1974707	NM_213622.4(STAMBP):c.487C>T (p.His163Tyr)	STAMBP (H163Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 503843	NM_213622.4(STAMBP):c.503_524del (p.Met168fs)	STAMBP (M168fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1918035	NM_213622.4(STAMBP):c.508C>T (p.Arg170Trp)	STAMBP (R170W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1487139	NM_213622.4(STAMBP):c.509G>A (p.Arg170Gln)	STAMBP (R35Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1997989	NM_213622.4(STAMBP):c.522A>G (p.Leu174=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1901983	NM_213622.4(STAMBP):c.557G>A (p.Gly186Glu)	STAMBP (G51E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3170909	NM_213622.4(STAMBP):c.583C>T (p.Pro195Ser)	STAMBP (P195S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170910	NM_213622.4(STAMBP):c.584C>T (p.Pro195Leu)	STAMBP (P195L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2173425	NM_213622.4(STAMBP):c.597C>T (p.Asp199=)	STAMBP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 2015834	NM_213622.4(STAMBP):c.653C>G (p.Pro218Arg)	STAMBP (P218R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2551716	NM_213622.4(STAMBP):c.658G>A (p.Asp220Asn)	STAMBP (D85N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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