"Ambry Genetics"[submitter] AND "ENTREP2"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3089198	NM_015307.2(ENTREP2):c.1597G>A (p.Ala533Thr)	ENTREP2 (A488T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089197	NM_015307.2(ENTREP2):c.1571G>A (p.Arg524His)	ENTREP2 (R524H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275576	NM_015307.2(ENTREP2):c.1547G>T (p.Arg516Leu)	ENTREP2 (R471L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089196	NM_015307.2(ENTREP2):c.1439T>C (p.Leu480Ser)	ENTREP2 (L480S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089195	NM_015307.2(ENTREP2):c.1391C>G (p.Pro464Arg)	ENTREP2 (P419R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591490	NM_015307.2(ENTREP2):c.1388G>A (p.Arg463Gln)	ENTREP2 (R367Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089194	NM_015307.2(ENTREP2):c.1387C>T (p.Arg463Trp)	ENTREP2 (R322W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275575	NM_015307.2(ENTREP2):c.1386A>T (p.Gln462His)	ENTREP2 (Q366H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089193	NM_015307.2(ENTREP2):c.1372T>C (p.Trp458Arg)	ENTREP2 (W317R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089192	NM_015307.2(ENTREP2):c.1357G>T (p.Gly453Trp)	ENTREP2 (G357W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089191	NM_015307.2(ENTREP2):c.1355C>T (p.Ala452Val)	ENTREP2 (A407V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089190	NM_015307.2(ENTREP2):c.1304C>T (p.Ala435Val)	ENTREP2 (A294V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552975	NM_015307.2(ENTREP2):c.1302C>G (p.Ser434Arg)	ENTREP2 (S338R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089189	NM_015307.2(ENTREP2):c.1273G>A (p.Ala425Thr)	ENTREP2 (A284T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275579	NM_015307.2(ENTREP2):c.1253C>G (p.Ser418Trp)	ENTREP2 (S322W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464978	NM_015307.2(ENTREP2):c.1250C>T (p.Pro417Leu)	ENTREP2 (P372L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089188	NM_015307.2(ENTREP2):c.1204A>C (p.Thr402Pro)	ENTREP2 (T357P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089187	NM_015307.2(ENTREP2):c.1187G>A (p.Arg396His)	ENTREP2 (R255H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089186	NM_015307.2(ENTREP2):c.1117C>T (p.Pro373Ser)	ENTREP2 (P373S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275574	NM_015307.2(ENTREP2):c.970G>A (p.Asp324Asn)	ENTREP2 (D279N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089220	NM_015307.2(ENTREP2):c.967G>A (p.Gly323Arg)	ENTREP2 (G182R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089219	NM_015307.2(ENTREP2):c.955G>A (p.Glu319Lys)	ENTREP2 (E223K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479866	NM_015307.2(ENTREP2):c.890C>T (p.Pro297Leu)	ENTREP2 (P201L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089218	NM_015307.2(ENTREP2):c.886C>G (p.Pro296Ala)	ENTREP2 (P296A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089217	NM_015307.2(ENTREP2):c.886C>A (p.Pro296Thr)	ENTREP2 (P155T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518247	NM_015307.2(ENTREP2):c.859G>A (p.Gly287Ser)	ENTREP2 (G191S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089216	NM_015307.2(ENTREP2):c.829A>C (p.Thr277Pro)	ENTREP2 (T181P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275577	NM_015307.2(ENTREP2):c.826G>A (p.Gly276Ser)	ENTREP2 (G180S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3275578	NM_015307.2(ENTREP2):c.815C>A (p.Pro272Gln)	ENTREP2 (P176Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089215	NM_015307.2(ENTREP2):c.733C>G (p.Pro245Ala)	ENTREP2 (P245A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089214	NM_015307.2(ENTREP2):c.728C>G (p.Pro243Arg)	ENTREP2 (P102R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089213	NM_015307.2(ENTREP2):c.681C>G (p.His227Gln)	ENTREP2 (H182Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466485	NM_015307.2(ENTREP2):c.656C>T (p.Ala219Val)	ENTREP2 (A78V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089211	NM_015307.2(ENTREP2):c.638C>T (p.Pro213Leu)	ENTREP2 (P213L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089208	NM_015307.2(ENTREP2):c.616G>A (p.Asp206Asn)	ENTREP2 (D110N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089207	NM_015307.2(ENTREP2):c.607G>A (p.Val203Ile)	ENTREP2 (V107I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089206	NM_015307.2(ENTREP2):c.600G>A (p.Met200Ile)	ENTREP2 (M155I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454929	NM_015307.2(ENTREP2):c.568G>A (p.Val190Met)	ENTREP2 (V145M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089205	NM_015307.2(ENTREP2):c.536G>T (p.Ser179Ile)	ENTREP2 (S38I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089204	NM_015307.2(ENTREP2):c.482C>T (p.Pro161Leu)	ENTREP2 (P161L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089203	NM_015307.2(ENTREP2):c.460G>A (p.Gly154Arg)	ENTREP2 (G154R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089202	NM_015307.2(ENTREP2):c.401G>T (p.Ser134Ile)	ENTREP2 (S134I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089201	NM_015307.2(ENTREP2):c.344G>A (p.Cys115Tyr)	ENTREP2 (C115Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1426978	NM_138704.4(NSMCE3):c.194C>T (p.Pro65Leu)	ENTREP2, NSMCE3 (P65L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1425967	NM_138704.4(NSMCE3):c.133G>C (p.Glu45Gln)	ENTREP2, NSMCE3 (E45Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2342926	NM_138704.4(NSMCE3):c.42G>C (p.Gln14His)	ENTREP2, NSMCE3 (Q14H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2045081	NM_138704.4(NSMCE3):c.41A>C (p.Gln14Pro)	ENTREP2, NSMCE3 (Q14P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3089200	NM_015307.2(ENTREP2):c.238A>G (p.Ile80Val)	ENTREP2 (I80V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089199	NM_015307.2(ENTREP2):c.184G>T (p.Val62Phe)	ENTREP2 (V62F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089212	NM_015307.2(ENTREP2):c.67C>A (p.Arg23Ser)	ENTREP2 (R23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089210	NM_015307.2(ENTREP2):c.62G>T (p.Arg21Leu)	ENTREP2 (R21L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 51