C4518785[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 717271	NM_002204.4(ITGA3):c.84C>T (p.Cys28=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1647064	NM_002204.4(ITGA3):c.207-18C>T	ITGA3	Single nucleotide variant (intron variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GBenign/Likely benign
Select item 732306	NM_002204.4(ITGA3):c.222C>T (p.Ala74=)	ITGA3	Single nucleotide variant (synonymous variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GBenign/Likely benign
Select item 1539287	NM_002204.4(ITGA3):c.234C>T (p.Leu78=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 598269	NM_002204.4(ITGA3):c.607G>A (p.Gly203Ser)	ITGA3 (G203S)	Single nucleotide variant (missense variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GUncertain significance
Select item 755740	NM_002204.4(ITGA3):c.645C>T (p.Pro215=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1439970	NM_002204.4(ITGA3):c.646G>A (p.Gly216Ser)	ITGA3 (G216S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 753561	NM_002204.4(ITGA3):c.759G>A (p.Thr253=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 723326	NM_002204.4(ITGA3):c.840G>A (p.Ala280=)	ITGA3	Single nucleotide variant (synonymous variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GLikely benign
Select item 730382	NM_002204.4(ITGA3):c.1047G>A (p.Ala349=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 718299	NM_002204.4(ITGA3):c.1290C>T (p.Phe430=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 208455	NM_002204.4(ITGA3):c.1387C>T (p.Arg463Trp)	ITGA3 (R463W)	Single nucleotide variant (missense variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	GLikely pathogenic
Select item 749616	NM_002204.4(ITGA3):c.1392C>T (p.Pro464=)	ITGA3	Single nucleotide variant (synonymous variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GLikely benign
Select item 785824	NM_002204.4(ITGA3):c.1420G>A (p.Val474Met)	ITGA3 (V474M)	Single nucleotide variant (missense variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GLikely benign
Select item 723099	NM_002204.4(ITGA3):c.1509C>T (p.Ala503=)	ITGA3	Single nucleotide variant (synonymous variant)	ITGA3-related condition +2 more	GLikely benign
Select item 1600855	NM_002204.4(ITGA3):c.1537+16C>T	ITGA3	Single nucleotide variant (intron variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GBenign/Likely benign
Select item 746397	NM_002204.4(ITGA3):c.1538-4G>A	ITGA3	Single nucleotide variant (intron variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GLikely benign
Select item 1347927	NM_002204.4(ITGA3):c.1597G>A (p.Gly533Ser)	ITGA3 (G533S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 749148	NM_002204.4(ITGA3):c.1675-8C>T	ITGA3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 792862	NM_002204.4(ITGA3):c.1764G>A (p.Leu588=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1339481	NM_002204.4(ITGA3):c.1766G>C (p.Arg589Pro)	ITGA3 (R589P)	Single nucleotide variant (missense variant)	Anemia +9 more	GUncertain significance
Select item 1639358	NM_002204.4(ITGA3):c.1825-15C>T	ITGA3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1334379	NM_002204.4(ITGA3):c.1994G>A (p.Arg665His)	ITGA3 (R665H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1195297	NM_002204.4(ITGA3):c.2046C>T (p.Ala682=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1547022	NM_002204.4(ITGA3):c.2184C>T (p.His728=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1407591	NM_002204.4(ITGA3):c.2233G>A (p.Asp745Asn)	ITGA3 (D745N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 708030	NM_002204.4(ITGA3):c.2289G>T (p.Ser763=)	ITGA3	Single nucleotide variant (synonymous variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GLikely benign
Select item 1554436	NM_002204.4(ITGA3):c.2400+7G>A	ITGA3	Single nucleotide variant (intron variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GBenign/Likely benign
Select item 817532	NM_002204.4(ITGA3):c.2623C>T (p.Arg875Ter)	ITGA3 (R875*)	Single nucleotide variant (nonsense)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GLikely pathogenic
Select item 786319	NM_002204.4(ITGA3):c.2707-8C>T	ITGA3	Single nucleotide variant (intron variant)	ITGA3-related condition +2 more	GLikely benign
Select item 753333	NM_002204.4(ITGA3):c.2920-8C>G	ITGA3	Single nucleotide variant (intron variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GLikely benign
Select item 754274	NM_002204.4(ITGA3):c.2964C>T (p.Ala988=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 717272	NM_002204.4(ITGA3):c.3046-5C>T	ITGA3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1509628	NM_002204.4(ITGA3):c.3104C>T (p.Ala1035Val)	ITGA3 (A1035V)	Single nucleotide variant (missense variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GUncertain significance
Select item 1198819	NM_002204.4(ITGA3):c.*14C>G	ITGA3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign

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Items: 35