C1839163[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135408	NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg)	WAS (G14R)	Indel (missense variant)	X-linked severe congenital neutropenia +2 more	GUncertain significance
Select item 1566018	NM_000377.3(WAS):c.273+14C>T	WAS	Single nucleotide variant (intron variant)	X-linked severe congenital neutropenia +2 more	GBenign/Likely benign
Select item 701065	NM_000377.3(WAS):c.339C>T (p.Phe113=)	WAS	Single nucleotide variant (synonymous variant)	X-linked severe congenital neutropenia +2 more	GLikely benign
Select item 135413	NM_000377.3(WAS):c.391G>A (p.Glu131Lys)	WAS (E131K)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +3 more	GConflicting classifications of pathogenicity
Select item 1088030	NM_000377.3(WAS):c.420C>T (p.Leu140=)	WAS	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 647802	NM_000377.3(WAS):c.463+3G>C	WAS	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 1153131	NM_000377.3(WAS):c.470G>A (p.Arg157His)	WAS (R157H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 1529895	NM_000377.3(WAS):c.498C>G (p.Ala166=)	WAS	Single nucleotide variant (synonymous variant)	X-linked severe congenital neutropenia +2 more	GLikely benign
Select item 1166818	NM_000377.3(WAS):c.559+3G>A	WAS	Single nucleotide variant (intron variant)	X-linked severe congenital neutropenia +2 more	GBenign/Likely benign
Select item 1602334	NM_000377.3(WAS):c.560-5dup	WAS	Duplication (intron variant)	X-linked severe congenital neutropenia +2 more	GBenign/Likely benign
Select item 1018255	NM_000377.3(WAS):c.802C>T (p.Arg268Trp)	WAS (R268W)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 1461223	NM_000377.3(WAS):c.803G>A (p.Arg268Gln)	WAS (R268Q)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GConflicting classifications of pathogenicity
Select item 707431	NM_000377.3(WAS):c.867T>C (p.Leu289=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 255965	NM_000377.3(WAS):c.873C>T (p.Tyr291=)	WAS	Single nucleotide variant (synonymous variant)	X-linked severe congenital neutropenia +3 more	GBenign/Likely benign
Select item 528224	NM_000377.3(WAS):c.897G>A (p.Gly299=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 1169688	NM_000377.3(WAS):c.941C>T (p.Pro314Leu)	WAS (P314L)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +2 more	GBenign
Select item 863583	NM_000377.3(WAS):c.946C>A (p.Pro316Thr)	WAS (P316T)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +2 more	GUncertain significance
Select item 1047669	NM_000377.3(WAS):c.962G>A (p.Arg321Gln)	WAS (R321Q)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 1335766	NM_000377.3(WAS):c.975G>C (p.Gln325His)	WAS (Q325H)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +3 more	GUncertain significance
Select item 839782	NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)	WAS (R364*)	Single nucleotide variant (nonsense)	X-linked severe congenital neutropenia +3 more	GPathogenic
Select item 695313	NM_000377.3(WAS):c.1110A>C (p.Pro370=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 1336214	NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)	WAS (P384S)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +4 more	GConflicting classifications of pathogenicity
Select item 1023401	NM_000377.3(WAS):c.1156C>T (p.Pro386Ser)	WAS (P386S)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +4 more	GUncertain significance
Select item 1597253	NM_000377.3(WAS):c.1191G>A (p.Pro397=)	WAS	Single nucleotide variant (synonymous variant)	X-linked severe congenital neutropenia +2 more	GLikely benign
Select item 1037693	NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup)	WAS	Duplication (inframe_insertion)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 444802	NM_000377.3(WAS):c.1208C>T (p.Pro403Leu)	WAS (P403L)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +4 more	GUncertain significance
Select item 958225	NM_000377.3(WAS):c.1219G>A (p.Gly407Arg)	WAS (G407R)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 1100272	NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)	WAS (P427L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1563586	NM_000377.3(WAS):c.1339-18G>A	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GBenign/Likely benign
Select item 1378400	NM_000377.3(WAS):c.1388C>T (p.Ser463Leu)	WAS (S463L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 945050	NM_000377.3(WAS):c.1391A>G (p.Glu464Gly)	WAS (E464G)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +2 more	GUncertain significance
Select item 418541	NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)	WAS (D485N)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +3 more	GPathogenic
Select item 255962	NM_000377.3(WAS):c.1453+16C>T	WAS	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign

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Items: 33