"ITGAM-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1164965	NM_000632.4(ITGAM):c.230G>A (p.Arg77His)	ITGAM, LOC126862331 (R77H)	Single nucleotide variant (missense variant)	ITGAM-related disorder +1 more	GBenign
Select item 2184353	NM_000632.4(ITGAM):c.294C>T (p.Ser98=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1672860	NM_000632.4(ITGAM):c.510G>A (p.Lys170=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1164966	NM_000632.4(ITGAM):c.559-4G>A	ITGAM	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2630050	NM_000632.4(ITGAM):c.704+5G>A	ITGAM	Single nucleotide variant (intron variant)	ITGAM-related disorder	GUncertain significance
Select item 1164967	NM_000632.4(ITGAM):c.704+10C>G	ITGAM	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 1168701	NM_000632.4(ITGAM):c.953T>A (p.Phe318Tyr)	ITGAM (F318Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3050736	NM_000632.4(ITGAM):c.1032C>T (p.Ser344=)	ITGAM	Single nucleotide variant (synonymous variant)	ITGAM-related disorder	GLikely benign
Select item 1562501	NM_000632.4(ITGAM):c.1263G>T (p.Leu421=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1168376	NM_000632.4(ITGAM):c.1322T>C (p.Met441Thr)	ITGAM (M441T)	Single nucleotide variant (missense variant)	ITGAM-related disorder +1 more	GBenign
Select item 1960508	NM_000632.4(ITGAM):c.1674C>T (p.Thr558=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1450034	NM_000632.4(ITGAM):c.1737G>C (p.Arg579Ser)	ITGAM (R579S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 768775	NM_000632.4(ITGAM):c.1944C>T (p.Ala648=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1487249	NM_000632.4(ITGAM):c.2047G>A (p.Gly683Ser)	ITGAM (G683S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2637060	NM_000632.4(ITGAM):c.2248C>G (p.Pro750Ala)	ITGAM (P750A +1 more)	Single nucleotide variant (missense variant)	ITGAM-related disorder	GUncertain significance
Select item 786639	NM_000632.4(ITGAM):c.2430T>C (p.Gly810=)	ITGAM	Single nucleotide variant (synonymous variant)	ITGAM-related disorder +1 more	GLikely benign
Select item 1164321	NM_000632.4(ITGAM):c.2499G>A (p.Thr833=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1164968	NM_000632.4(ITGAM):c.2573C>T (p.Ala858Val)	ITGAM (A858V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1546654	NM_000632.4(ITGAM):c.2646G>A (p.Thr882=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1636816	NM_000632.4(ITGAM):c.2670C>G (p.Ser890=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1529873	NM_000632.4(ITGAM):c.2868+10T>C	ITGAM	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1559888	NM_000632.4(ITGAM):c.3213G>C (p.Glu1071Asp)	ITGAM (E1071D +1 more)	Single nucleotide variant (missense variant)	ITGAM-related disorder +1 more	GBenign/Likely benign
Select item 1164969	NM_000632.4(ITGAM):c.3436C>T (p.Pro1146Ser)	ITGAM (P1146S +1 more)	Single nucleotide variant (missense variant)	ITGAM-related disorder +1 more	GBenign

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Items: 25