"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PLXNB3"[ge - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2661715	NM_005393.3(PLXNB3):c.5G>A (p.Cys2Tyr)	PLXNB3, PLXNB3-AS1 (C2Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661716	NM_005393.3(PLXNB3):c.39C>G (p.His13Gln)	PLXNB3, PLXNB3-AS1 (H13Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2673267	NM_005393.3(PLXNB3):c.46-613G>A	PLXNB3, PLXNB3-AS1 (R17Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661717	NM_005393.3(PLXNB3):c.294C>T (p.Cys98=)	PLXNB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370885	NM_005393.3(PLXNB3):c.374G>A (p.Arg125His)	PLXNB3 (R125H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2661718	NM_005393.3(PLXNB3):c.786C>T (p.Tyr262=)	PLXNB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661719	NM_005393.3(PLXNB3):c.948C>G (p.Ala316=)	PLXNB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661720	NM_005393.3(PLXNB3):c.1095C>T (p.Pro365=)	PLXNB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661721	NM_005393.3(PLXNB3):c.1179C>T (p.Leu393=)	PLXNB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067624	NM_005393.3(PLXNB3):c.1633A>T (p.Thr545Ser)	PLXNB3 (T545S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807842	NM_005393.3(PLXNB3):c.2085G>A (p.Val695=)	PLXNB3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2661722	NM_005393.3(PLXNB3):c.2257T>C (p.Tyr753His)	PLXNB3 (Y753H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2594002	NM_005393.3(PLXNB3):c.2365G>A (p.Ala789Thr)	PLXNB3 (A812T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2661723	NM_005393.3(PLXNB3):c.2379G>A (p.Pro793=)	PLXNB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661724	NM_005393.3(PLXNB3):c.3080G>A (p.Arg1027Gln)	PLXNB3 (R1027Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661725	NM_005393.3(PLXNB3):c.3247G>A (p.Ala1083Thr)	PLXNB3 (A1083T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2321292	NM_005393.3(PLXNB3):c.3289G>A (p.Val1097Ile)	PLXNB3 (V1097I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2354345	NM_005393.3(PLXNB3):c.3479G>A (p.Arg1160His)	PLXNB3 (R1160H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 444830	NM_005393.3(PLXNB3):c.3745G>A (p.Ala1249Thr)	PLXNB3 (A1249T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661726	NM_005393.3(PLXNB3):c.4141C>T (p.Leu1381Phe)	PLXNB3 (L1381F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661727	NM_005393.3(PLXNB3):c.4302C>T (p.Tyr1434=)	PLXNB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807843	NM_005393.3(PLXNB3):c.4817C>T (p.Thr1606Ile)	PLXNB3 (T1606I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067635	NM_005393.3(PLXNB3):c.5100+2T>C	PLXNB3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2661728	NM_005393.3(PLXNB3):c.5547C>T (p.Ser1849=)	PLXNB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic

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Items: 25