"GeneDx"[submitter] AND "BICRA"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 3369156	NM_001394372.1(BICRA):c.50A>G (p.Gln17Arg)	BICRA (Q17R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342756	NM_001394372.1(BICRA):c.151-10C>T	BICRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3373560	NM_001394372.1(BICRA):c.172G>T (p.Gly58Cys)	BICRA (G58C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579920	NM_001394372.1(BICRA):c.337A>G (p.Ile113Val)	BICRA (I113V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327278	NM_001394372.1(BICRA):c.338T>G (p.Ile113Ser)	BICRA (I113S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279704	NM_001394372.1(BICRA):c.360C>T (p.Ala120=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1315590	NM_001394372.1(BICRA):c.458C>T (p.Ala153Val)	BICRA (A153V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1262228	NM_001394372.1(BICRA):c.519T>C (p.Pro173=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1218902	NM_001394372.1(BICRA):c.535C>T (p.Gln179Ter)	BICRA (Q179*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1878946	NM_001394372.1(BICRA):c.635C>T (p.Pro212Leu)	BICRA (P212L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1238835	NM_001394372.1(BICRA):c.687A>G (p.Thr229=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2574298	NM_001394372.1(BICRA):c.692G>C (p.Gly231Ala)	BICRA (G231A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577644	NM_001394372.1(BICRA):c.769G>C (p.Val257Leu)	BICRA (V257L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373255	NM_001394372.1(BICRA):c.899C>T (p.Thr300Met)	BICRA (T300M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806555	NM_001394372.1(BICRA):c.905A>G (p.Asn302Ser)	BICRA (N302S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878923	NM_001394372.1(BICRA):c.971C>T (p.Pro324Leu)	BICRA (P324L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364229	NM_001394372.1(BICRA):c.1075C>A (p.Leu359Met)	BICRA (L359M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573722	NM_001394372.1(BICRA):c.1181C>T (p.Pro394Leu)	BICRA (P394L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365818	NM_001394372.1(BICRA):c.1202CGG[1] (p.Ala402del)	BICRA (A402del)	Microsatellite	not provided	GUncertain significance
Select item 1810186	NM_001394372.1(BICRA):c.1224C>A (p.Asn408Lys)	BICRA (N408K)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12 +1 more	GUncertain significance
Select item 2503233	NM_001394372.1(BICRA):c.1244C>G (p.Pro415Arg)	BICRA (P415R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500607	NM_001394372.1(BICRA):c.1292C>T (p.Thr431Ile)	BICRA (T431I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372061	NM_001394372.1(BICRA):c.1343G>T (p.Ser448Ile)	BICRA (S448I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704040	NM_001394372.1(BICRA):c.1393A>G (p.Met465Val)	BICRA (M465V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344996	NM_001394372.1(BICRA):c.1399C>T (p.Pro467Ser)	BICRA (P467S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2504857	NM_001394372.1(BICRA):c.1639A>T (p.Ile547Phe)	BICRA (I547F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499723	NM_001394372.1(BICRA):c.1671G>T (p.Met557Ile)	BICRA (M557I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253377	NM_001394372.1(BICRA):c.1735G>A (p.Ala579Thr)	BICRA (A579T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412985	NM_001394372.1(BICRA):c.1828G>T (p.Ala610Ser)	BICRA (A610S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364218	NM_001394372.1(BICRA):c.1944_1976del (p.Pro651_Ala661del)	BICRA	Deletion	not provided	GUncertain significance
Select item 3364528	NM_001394372.1(BICRA):c.1951_1965del (p.Pro651_Ala655del)	BICRA	Deletion	not provided	GUncertain significance
Select item 1706314	NM_001394372.1(BICRA):c.1999_2003dup (p.Gly669fs)	BICRA (G669fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1257456	NM_001394372.1(BICRA):c.2047C>T (p.Pro683Ser)	BICRA (P683S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1318637	NM_001394372.1(BICRA):c.2075_2078del (p.Thr692fs)	BICRA (T692fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1318614	NM_001394372.1(BICRA):c.2106G>C (p.Gln702His)	BICRA (Q702H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229149	NM_001394372.1(BICRA):c.2106+14G>A	BICRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2442547	NM_001394372.1(BICRA):c.2343C>G (p.His781Gln)	BICRA (H781Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369675	NM_001394372.1(BICRA):c.2504T>G (p.Phe835Cys)	BICRA (F835C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662235	NM_001394372.1(BICRA):c.2810del (p.Pro937fs)	BICRA (P937fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1317446	NM_001394372.1(BICRA):c.2908A>G (p.Ile970Val)	BICRA (I970V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506844	NM_001394372.1(BICRA):c.3034G>T (p.Ala1012Ser)	BICRA (A1012S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572712	NM_001394372.1(BICRA):c.3148G>A (p.Ala1050Thr)	BICRA (A1050T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365268	NM_001394372.1(BICRA):c.3278G>T (p.Gly1093Val)	BICRA (G1093V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575758	NM_001394372.1(BICRA):c.3328G>A (p.Ala1110Thr)	BICRA (A1110T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315805	NM_001394372.1(BICRA):c.3348_3352del (p.Tyr1117fs)	BICRA (Y1117fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3363971	NM_001394372.1(BICRA):c.3595G>T (p.Asp1199Tyr)	BICRA, LOC121627883 (D1199Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499357	NM_001394372.1(BICRA):c.3620C>G (p.Ser1207Trp)	BICRA (S1207W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372664	NM_001394372.1(BICRA):c.3859G>A (p.Gly1287Ser)	BICRA (G1287S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800612	NM_001394372.1(BICRA):c.4081G>A (p.Gly1361Ser)	BICRA (G1361S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503341	NM_001394372.1(BICRA):c.4162C>T (p.Arg1388Cys)	BICRA (R1388C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320731	NM_001394372.1(BICRA):c.4190del (p.Gly1397fs)	BICRA (G1397fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3367565	NM_001394372.1(BICRA):c.4340C>A (p.Pro1447His)	BICRA (P1447H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444820	NM_001394372.1(BICRA):c.4342C>T (p.Pro1448Ser)	BICRA (P1448S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801890	NM_001394372.1(BICRA):c.4414G>T (p.Ala1472Ser)	BICRA (A1472S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700776	NM_001394372.1(BICRA):c.4438C>T (p.Pro1480Ser)	BICRA (P1480S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497945	NM_001394372.1(BICRA):c.4510G>A (p.Ala1504Thr)	BICRA (A1504T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707926	NM_001394372.1(BICRA):c.4579G>T (p.Ala1527Ser)	BICRA (A1527S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376010	NM_001394372.1(BICRA):c.4628C>T (p.Ala1543Val)	BICRA (A1543V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361280	NM_001394372.1(BICRA):c.3105_3107del (p.Asn1035del)	BICRA (N1035del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3359562	NM_001394372.1(BICRA):c.2070C>G (p.Ile690Met)	BICRA (I690M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 62