LOC126862331[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 76

	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 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 provided +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 provided +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
Select item 1540205	NM_000632.4(ITGAM):c.390A>G (p.Leu130=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1385732	NM_000632.4(ITGAM):c.391C>T (p.Arg131Trp)	ITGAM, LOC126862331 (R131W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1362472	NM_000632.4(ITGAM):c.394C>T (p.Gln132Ter)	ITGAM, LOC126862331 (Q132*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2962138	NM_000632.4(ITGAM):c.395A>G (p.Gln132Arg)	ITGAM, LOC126862331 (Q132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721087	NM_000632.4(ITGAM):c.424C>T (p.Arg142Ter)	ITGAM, LOC126862331 (R142*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2063267	NM_000632.4(ITGAM):c.427+7T>C	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923542	NM_000632.4(ITGAM):c.427+10C>T	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 76