LOC126862332[gene] - ClinVar

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

Search results

Items: 35

	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 2998828	NM_000632.4(ITGAM):c.706C>T (p.Arg236Ter)	ITGAM, LOC126862332 (R236*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1641034	NM_000632.4(ITGAM):c.717T>C (p.Phe239=)	ITGAM, LOC126862332	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000060	NM_000632.4(ITGAM):c.718A>G (p.Asn240Asp)	ITGAM, LOC126862332 (N240D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2324882	NM_000632.4(ITGAM):c.721A>C (p.Ile241Leu)	ITGAM, LOC126862332 (I241L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1403129	NM_000632.4(ITGAM):c.725C>A (p.Thr242Asn)	LOC126862332, ITGAM (T242N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1617966	NM_000632.4(ITGAM):c.729C>T (p.Asn243=)	ITGAM, LOC126862332	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507397	NM_000632.4(ITGAM):c.730G>A (p.Gly244Arg)	ITGAM, LOC126862332 (G244R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164680	NM_000632.4(ITGAM):c.737G>A (p.Arg246Gln)	ITGAM, LOC126862332 (R246Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1491309	NM_000632.4(ITGAM):c.739A>G (p.Lys247Glu)	ITGAM, LOC126862332 (K247E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406355	NM_000632.4(ITGAM):c.745G>A (p.Ala249Thr)	ITGAM, LOC126862332 (A249T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738458	NM_000632.4(ITGAM):c.753G>A (p.Lys251=)	ITGAM, LOC126862332	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967648	NM_000632.4(ITGAM):c.756C>T (p.Ile252=)	ITGAM, LOC126862332	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792265	NM_000632.4(ITGAM):c.761T>C (p.Val254Ala)	ITGAM, LOC126862332 (V254A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481731	NM_000632.4(ITGAM):c.777A>T (p.Gly259=)	ITGAM, LOC126862332	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752578	NM_000632.4(ITGAM):c.778G>A (p.Glu260Lys)	ITGAM, LOC126862332 (E260K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550774	NM_000632.4(ITGAM):c.789C>T (p.Gly263=)	ITGAM, LOC126862332	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355397	NM_000632.4(ITGAM):c.790G>A (p.Asp264Asn)	ITGAM, LOC126862332 (D264N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1653519	NM_000632.4(ITGAM):c.792T>C (p.Asp264=)	ITGAM, LOC126862332	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3055598	NM_000632.4(ITGAM):c.795C>T (p.Pro265=)	ITGAM, LOC126862332	Single nucleotide variant (synonymous variant)	ITGAM-related disorder	GLikely benign
Select item 1989171	NM_000632.4(ITGAM):c.802T>A (p.Tyr268Asn)	ITGAM, LOC126862332 (Y268N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2771579	NM_000632.4(ITGAM):c.803A>T (p.Tyr268Phe)	ITGAM, LOC126862332 (Y268F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705666	NM_000632.4(ITGAM):c.805G>T (p.Glu269Ter)	ITGAM, LOC126862332 (E269*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1996800	NM_000632.4(ITGAM):c.805G>A (p.Glu269Lys)	ITGAM, LOC126862332 (E269K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370915	NM_000632.4(ITGAM):c.808G>A (p.Asp270Asn)	ITGAM, LOC126862332 (D270N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3052286	NM_000632.4(ITGAM):c.823G>C (p.Ala275Pro)	ITGAM, LOC126862332 (A275P)	Single nucleotide variant (missense variant)	ITGAM-related disorder	GUncertain significance
Select item 1722171	NM_000632.4(ITGAM):c.830G>T (p.Arg277Ile)	ITGAM, LOC126862332 (R277I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1602057	NM_000632.4(ITGAM):c.834G>A (p.Glu278=)	ITGAM, LOC126862332	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870853	NM_000632.4(ITGAM):c.835G>A (p.Gly279Arg)	ITGAM, LOC126862332 (G279R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076340	NM_000632.4(ITGAM):c.849C>T (p.Tyr283=)	ITGAM, LOC126862332	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1044609	NM_000632.4(ITGAM):c.850G>A (p.Val284Ile)	ITGAM, LOC126862332 (V284I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938089	NM_000632.4(ITGAM):c.851T>A (p.Val284Asp)	LOC126862332, ITGAM (V284D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005251	NM_000632.4(ITGAM):c.858+16del	ITGAM, LOC126862332	Deletion (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: 35