ITGAM[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 1049767	NC_000016.10:g.31257008_31257021delinsC	ITGAM	Indel	not provided	GUncertain significance
Select item 1049353	NC_000016.10:g.31258314_31258316dup	ITGAM	Duplication	not provided	GUncertain significance
Select item 2707877	NM_000632.4(ITGAM):c.4G>T (p.Ala2Ser)	ITGAM (A2S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168374	NM_000632.4(ITGAM):c.7C>T (p.Leu3Phe)	ITGAM (L3F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052199	NM_000632.4(ITGAM):c.8T>G (p.Leu3Arg)	ITGAM (L3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490534	NM_000632.4(ITGAM):c.14T>C (p.Val5Ala)	ITGAM (V5A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695140	NM_000632.4(ITGAM):c.15C>G (p.Val5=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434930	NM_000632.4(ITGAM):c.28+5A>C	ITGAM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1657194	NM_000632.4(ITGAM):c.28+7G>A	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1550918	NM_000632.4(ITGAM):c.28+13G>C	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670129	NM_000632.4(ITGAM):c.28+14_28+15insCAC	ITGAM	Insertion (intron variant)	not provided	GLikely benign
Select item 2802165	NM_000632.4(ITGAM):c.28+17T>A	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1538088	NM_000632.4(ITGAM):c.29-13A>C	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877900	NM_000632.4(ITGAM):c.29-6C>T	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784047	NM_000632.4(ITGAM):c.55T>C (p.Leu19=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2006976	NM_000632.4(ITGAM):c.58G>A (p.Asp20Asn)	ITGAM (D20N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378132	NM_000632.4(ITGAM):c.59A>G (p.Asp20Gly)	ITGAM (D20G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192967	NM_000632.4(ITGAM):c.62C>T (p.Thr21Ile)	ITGAM (T21I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898123	NM_000632.4(ITGAM):c.69C>T (p.Asn23=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968348	NM_000632.4(ITGAM):c.90C>T (p.Asn30=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655598	NM_000632.4(ITGAM):c.96G>A (p.Arg32=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638909	NM_000632.4(ITGAM):c.102C>T (p.Phe34=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1524198	NM_000632.4(ITGAM):c.103G>A (p.Gly35Arg)	ITGAM (G35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652756	NM_000632.4(ITGAM):c.111C>T (p.Ser37=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1412109	NM_000632.4(ITGAM):c.112G>A (p.Val38Met)	ITGAM (V38M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354817	NM_000632.4(ITGAM):c.122T>A (p.Leu41His)	ITGAM (L41H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809948	NM_000632.4(ITGAM):c.132C>A (p.Ser44=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901249	NM_000632.4(ITGAM):c.134G>A (p.Arg45Lys)	ITGAM (R45K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477971	NM_000632.4(ITGAM):c.134+4A>T	ITGAM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1170102	NM_000632.4(ITGAM):c.134+11T>C	ITGAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2114534	NM_000632.4(ITGAM):c.134+19G>A	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528922	NM_000632.4(ITGAM):c.135-17C>T	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549374	NM_000632.4(ITGAM):c.135-16C>T	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1408469	NM_000632.4(ITGAM):c.135-1G>A	ITGAM, LOC126862331	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1362383	NM_000632.4(ITGAM):c.136G>A (p.Val46Met)	ITGAM, LOC126862331 (V46M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1367092	NM_000632.4(ITGAM):c.142G>A (p.Val48Ile)	ITGAM, LOC126862331 (V48I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809244	NM_000632.4(ITGAM):c.146G>T (p.Gly49Val)	ITGAM, LOC126862331 (G49V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467725	NM_000632.4(ITGAM):c.146G>C (p.Gly49Ala)	ITGAM, LOC126862331 (G49A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806911	NM_000632.4(ITGAM):c.148G>A (p.Ala50Thr)	ITGAM, LOC126862331 (A50T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058184	NM_000632.4(ITGAM):c.149C>G (p.Ala50Gly)	ITGAM, LOC126862331 (A50G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066717	NM_000632.4(ITGAM):c.150C>T (p.Ala50=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900254	NM_000632.4(ITGAM):c.153C>G (p.Pro51=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044104	NM_000632.4(ITGAM):c.161T>C (p.Ile54Thr)	ITGAM, LOC126862331 (I54T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434435	NM_000632.4(ITGAM):c.182G>A (p.Gly61Asp)	ITGAM, LOC126862331 (G61D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735533	NM_000632.4(ITGAM):c.192C>T (p.Tyr64=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999131	NM_000632.4(ITGAM):c.198C>T (p.Cys66=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904674	NM_000632.4(ITGAM):c.204C>T (p.Tyr68=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134709	NM_000632.4(ITGAM):c.205A>T (p.Ser69Cys)	ITGAM, LOC126862331 (S69C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1513887	NM_000632.4(ITGAM):c.217T>G (p.Cys73Gly)	ITGAM, LOC126862331 (C73G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437382	NM_000632.4(ITGAM):c.219C>T (p.Cys73=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868687	NM_000632.4(ITGAM):c.220G>A (p.Glu74Lys)	ITGAM, LOC126862331 (E74K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409930	NM_000632.4(ITGAM):c.229C>T (p.Arg77Cys)	ITGAM, LOC126862331 (R77C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1164965	NM_000632.4(ITGAM):c.230G>A (p.Arg77His)	ITGAM, LOC126862331 (R77H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2791400	NM_000632.4(ITGAM):c.238+12C>T	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657640	NM_000632.4(ITGAM):c.238+15C>T	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902776	NM_000632.4(ITGAM):c.238+16G>A	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630204	NM_000632.4(ITGAM):c.238+18C>T	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667111	NM_000632.4(ITGAM):c.238+19G>C	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1019309	NM_000632.4(ITGAM):c.238+19G>A	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050149	NM_000632.4(ITGAM):c.238+20G>A	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007122	NM_000632.4(ITGAM):c.239-6C>T	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1483870	NM_000632.4(ITGAM):c.239-6C>A	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1933950	NM_000632.4(ITGAM):c.239-4G>A	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2965441	NM_000632.4(ITGAM):c.243C>T (p.Pro81=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1419004	NM_000632.4(ITGAM):c.244G>A (p.Val82Met)	ITGAM, LOC126862331 (V82M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1417765	NM_000632.4(ITGAM):c.244G>C (p.Val82Leu)	ITGAM, LOC126862331 (V82L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605384	NM_000632.4(ITGAM):c.252C>T (p.Ala84=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776007	NM_000632.4(ITGAM):c.253G>T (p.Val85Leu)	ITGAM, LOC126862331 (V85L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355903	NM_000632.4(ITGAM):c.253G>A (p.Val85Met)	ITGAM, LOC126862331 (V85M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2798473	NM_000632.4(ITGAM):c.281_282delinsGT (p.Ala94Gly)	ITGAM, LOC126862331 (A94G)	Indel (missense variant)	not provided	GUncertain significance
Select item 2184353	NM_000632.4(ITGAM):c.294C>T (p.Ser98=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1407789	NM_000632.4(ITGAM):c.294C>A (p.Ser98Arg)	ITGAM, LOC126862331 (S98R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1529360	NM_000632.4(ITGAM):c.297C>A (p.Pro99=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097265	NM_000632.4(ITGAM):c.298C>A (p.Pro100Thr)	ITGAM, LOC126862331 (P100T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2999419	NM_000632.4(ITGAM):c.299C>T (p.Pro100Leu)	ITGAM, LOC126862331 (P100L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2761631	NM_000632.4(ITGAM):c.302_303delinsCA (p.Gln101Pro)	ITGAM, LOC126862331 (Q101P)	Indel (missense variant)	not provided	GUncertain significance
Select item 2914520	NM_000632.4(ITGAM):c.309+8G>C	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1573614	NM_000632.4(ITGAM):c.309+13C>T	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2980443	NM_000632.4(ITGAM):c.309+14G>A	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1558659	NM_000632.4(ITGAM):c.309+14G>T	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566495	NM_000632.4(ITGAM):c.310-19A>G	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759270	NM_000632.4(ITGAM):c.310-7C>T	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848860	NM_000632.4(ITGAM):c.310-4C>T	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650056	NM_000632.4(ITGAM):c.310-4C>A	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1358255	NM_000632.4(ITGAM):c.319C>T (p.Pro107Ser)	ITGAM, LOC126862331 (P107S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010645	NM_000632.4(ITGAM):c.320C>T (p.Pro107Leu)	ITGAM, LOC126862331 (P107L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1557658	NM_000632.4(ITGAM):c.324C>T (p.Thr108=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512482	NM_000632.4(ITGAM):c.325G>A (p.Val109Met)	ITGAM, LOC126862331 (V109M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880025	NM_000632.4(ITGAM):c.338G>A (p.Cys113Tyr)	ITGAM, LOC126862331 (C113Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158695	NM_000632.4(ITGAM):c.342T>A (p.Ser114Arg)	ITGAM, LOC126862331 (S114R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994584	NM_000632.4(ITGAM):c.350C>T (p.Thr117Met)	ITGAM, LOC126862331 (T117M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550125	NM_000632.4(ITGAM):c.351G>A (p.Thr117=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103258	NM_000632.4(ITGAM):c.364C>T (p.Leu122Phe)	ITGAM, LOC126862331 (L122F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2812731	NM_000632.4(ITGAM):c.375G>A (p.Leu125=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672466	NM_000632.4(ITGAM):c.375G>C (p.Leu125=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987678	NM_000632.4(ITGAM):c.378T>C (p.Phe126=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3111360	NM_000632.4(ITGAM):c.386A>G (p.Asn129Ser)	ITGAM, LOC126862331 (N129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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