"GeneDx"[submitter] AND "BICC1"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 1223334	NM_001080512.3(BICC1):c.-196T>C	BICC1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1219757	NM_001080512.3(BICC1):c.-96C>T	BICC1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1274741	NM_001080512.3(BICC1):c.-51G>A	BICC1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1280720	NM_001080512.3(BICC1):c.190+28T>C	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261535	NM_001080512.3(BICC1):c.190+62C>A	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275954	NM_001080512.3(BICC1):c.190+104_190+107del	BICC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1247029	NM_001080512.3(BICC1):c.191-62C>T	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301517	NM_001080512.3(BICC1):c.237+44A>G	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191053	NM_001080512.3(BICC1):c.238-142dup	BICC1	Duplication (intron variant)	not provided	GLikely benign
Select item 1253578	NM_001080512.3(BICC1):c.307+193C>G	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258665	NM_001080512.3(BICC1):c.387+205C>T	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251425	NM_001080512.3(BICC1):c.387+221C>A	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204778	NM_001080512.3(BICC1):c.387+246A>G	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201380	NM_001080512.3(BICC1):c.387+272T>C	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311699	NM_001080512.3(BICC1):c.506C>G (p.Pro169Arg)	BICC1 (P169R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333060	NM_001080512.3(BICC1):c.547-218A>G	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263949	NM_001080512.3(BICC1):c.600+93G>A	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235221	NM_001080512.3(BICC1):c.601-189G>A	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190245	NM_001080512.3(BICC1):c.601-59C>T	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181881	NM_001080512.3(BICC1):c.707A>G (p.Asn236Ser)	BICC1 (N236S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 786158	NM_001080512.3(BICC1):c.846T>C (p.Ala282=)	BICC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1312347	NM_001080512.3(BICC1):c.974A>G (p.Asn325Ser)	BICC1 (N325S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 383742	NM_001080512.3(BICC1):c.994G>A (p.Val332Ile)	BICC1 (V332I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201256	NM_001080512.3(BICC1):c.1048-205C>T	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304890	NM_001080512.3(BICC1):c.1179+1G>A	BICC1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1197437	NM_001080512.3(BICC1):c.1179+233A>G	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280534	NM_001080512.3(BICC1):c.1180-241A>G	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186376	NM_001080512.3(BICC1):c.1366+4T>C	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1244614	NM_001080512.3(BICC1):c.1366+228A>G	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281697	NM_001080512.3(BICC1):c.1366+242G>A	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187651	NM_001080512.3(BICC1):c.1366+292A>C	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234039	NM_001080512.3(BICC1):c.1367-34A>T	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230467	NM_001080512.3(BICC1):c.1725+35G>C	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273430	NM_001080512.3(BICC1):c.1858+248G>C	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312346	NM_001080512.3(BICC1):c.1910C>A (p.Ser637Tyr)	BICC1 (S637Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 716212	NM_001080512.3(BICC1):c.2046A>T (p.Glu682Asp)	BICC1 (E682D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1526374	NM_001080512.3(BICC1):c.2047C>T (p.Leu683=)	BICC1	Single nucleotide variant (synonymous variant)	Renal dysplasia, cystic, susceptibility to +1 more	GBenign/Likely benign
Select item 1202567	NM_001080512.3(BICC1):c.2132A>C (p.Asn711Thr)	BICC1 (N711T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1264514	NM_001080512.3(BICC1):c.2181+60G>C	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294570	NM_001080512.3(BICC1):c.2182-207G>A	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707155	NM_001080512.3(BICC1):c.2182-182G>A	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282993	NM_001080512.3(BICC1):c.2182-91A>G	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265571	NM_001080512.3(BICC1):c.2221+90A>G	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208191	NM_001080512.3(BICC1):c.2222-116A>G	BICC1, LOC126860938	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304123	NM_001080512.3(BICC1):c.2240T>C (p.Val747Ala)	BICC1, LOC126860938 (V747A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189720	NM_001080512.3(BICC1):c.2377-105G>A	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192766	NM_001080512.3(BICC1):c.2399G>A (p.Arg800Gln)	BICC1 (R800Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 382305	NM_001080512.3(BICC1):c.2411G>A (p.Arg804His)	BICC1 (R804H)	Single nucleotide variant (missense variant)	Renal dysplasia, cystic, susceptibility to +1 more	GUncertain significance
Select item 1302250	NM_001080512.3(BICC1):c.2455C>T (p.Arg819Ter)	BICC1 (R819*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1231983	NM_001080512.3(BICC1):c.2533+7G>T	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249703	NM_001080512.3(BICC1):c.2534-66C>T	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245068	NM_001080512.3(BICC1):c.2605T>C (p.Leu869=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770964	NM_001080512.3(BICC1):c.2608A>G (p.Asn870Asp)	BICC1 (N870D)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1686676	NM_001080512.3(BICC1):c.2695-31A>G	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1313089	NM_001080512.3(BICC1):c.2711T>C (p.Phe904Ser)	BICC1 (F904S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190867	NM_001080512.3(BICC1):c.2795-275A>G	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264364	NM_001080512.3(BICC1):c.2795-56G>A	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226932	NM_001080512.3(BICC1):c.2795-46T>C	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297297	NM_001080512.3(BICC1):c.2827T>C (p.Ser943Pro)	BICC1 (S943P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785318	NM_001080512.3(BICC1):c.2834A>G (p.Asn945Ser)	BICC1 (N945S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 385341	NM_001080512.3(BICC1):c.2881C>T (p.Arg961Cys)	BICC1 (R961C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191358	NM_001080512.3(BICC1):c.*234A>C	BICC1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1219975	NM_001080512.3(BICC1):c.*239C>A	BICC1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1294505	NM_001080512.3(BICC1):c.*299G>T	BICC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 66