"Genetic Services Laboratory, University of Chicago"[submitter] AND "P - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 620603	NM_016734.3(PAX5):c.1169G>A (p.Arg390His)	PAX5 (R390H +10 more)	Single nucleotide variant (missense variant +1 more)	Leukemia, acute lymphoblastic, susceptibility to, 3	GUncertain significance
Select item 1336961	NM_016734.3(PAX5):c.1161C>T (p.Ala387=)	PAX5 (P281L +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1337669	NM_016734.3(PAX5):c.1137C>T (p.Ala379=)	PAX5 (P273L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 1337759	NM_016734.3(PAX5):c.1126G>A (p.Ala376Thr)	PAX5 (A205T +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1336248	NM_016734.3(PAX5):c.1100-11G>A	PAX5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 436160	NM_016734.3(PAX5):c.1099+12C>T	PAX5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2443201	NM_016734.3(PAX5):c.1089G>A (p.Pro363=)	PAX5 (R286Q)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 1337493	NM_016734.3(PAX5):c.1027G>A (p.Gly343Arg)	PAX5 (G235R +4 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 436161	NM_016734.3(PAX5):c.1026C>T (p.Ser342=)	PAX5 (P265L)	Single nucleotide variant (synonymous variant +3 more)	not specified +1 more	GLikely benign
Select item 1337664	NM_016734.3(PAX5):c.1013-7T>C	PAX5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1337908	NM_016734.3(PAX5):c.990G>A (p.Pro330=)	PAX5	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1336590	NM_016734.3(PAX5):c.961C>T (p.Pro321Ser)	PAX5 (P213S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1336140	NM_016734.3(PAX5):c.957C>T (p.Val319=)	PAX5	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 738476	NM_016734.3(PAX5):c.954C>T (p.His318=)	PAX5	Single nucleotide variant (synonymous variant +2 more)	PAX5-related disorder +2 more	GBenign/Likely benign
Select item 436163	NM_016734.3(PAX5):c.923C>T (p.Ala308Val)	PAX5 (A308V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 1336045	NM_016734.3(PAX5):c.910+9A>G	PAX5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 436162	NM_016734.3(PAX5):c.825C>T (p.Asp275=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1337695	NM_016734.3(PAX5):c.822G>A (p.Leu274=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1337094	NM_016734.3(PAX5):c.819G>C (p.Gly273=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2443203	NM_016734.3(PAX5):c.780+10G>A	PAX5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1337574	NM_016734.3(PAX5):c.774C>T (p.Pro258=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	PAX5-related disorder +2 more	GLikely benign
Select item 1337749	NM_016734.3(PAX5):c.717C>T (p.Arg239=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1337936	NM_016734.3(PAX5):c.700C>T (p.Leu234=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1338050	NM_016734.3(PAX5):c.662G>A (p.Arg221Gln)	PAX5 (R113Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 135001	NM_016734.3(PAX5):c.638C>T (p.Ser213Leu)	PAX5 (S213L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1336047	NM_016734.3(PAX5):c.630C>T (p.Asn210=)	PAX5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1338554	NM_016734.3(PAX5):c.605G>A (p.Gly202Asp)	PAX5 (G136D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 134999	NM_016734.3(PAX5):c.244G>A (p.Val82Ile)	PAX5 (V82I)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GBenign
Select item 1337694	NM_016734.3(PAX5):c.234C>T (p.Ile78=)	PAX5	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 134997	NM_016734.3(PAX5):c.6T>A (p.Asp2Glu)	PAX5 (D2E)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign

ClinVar

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Items: 30