80114[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
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 2719220	NM_001080512.3(BICC1):c.21C>T (p.Pro7=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787162	NM_001080512.3(BICC1):c.26A>T (p.Tyr9Phe)	BICC1 (Y9F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934585	NM_001080512.3(BICC1):c.28C>T (p.Leu10=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992958	NM_001080512.3(BICC1):c.32C>G (p.Ala11Gly)	BICC1 (A11G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383883	NM_001080512.3(BICC1):c.41C>T (p.Ser14Leu)	BICC1 (S14L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2017880	NM_001080512.3(BICC1):c.46C>A (p.Pro16Thr)	BICC1 (P16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1048654	NM_001080512.3(BICC1):c.93del (p.Glu32fs)	BICC1 (E32fs)	Deletion (frameshift variant)	Renal dysplasia, cystic, susceptibility to	GPathogenic
Select item 2782401	NM_001080512.3(BICC1):c.121C>T (p.Leu41=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709315	NM_001080512.3(BICC1):c.129C>G (p.Ser43Arg)	BICC1 (S43R)	Single nucleotide variant (missense variant)	Renal dysplasia, cystic, susceptibility to	GUncertain significance
Select item 2066224	NM_001080512.3(BICC1):c.131C>T (p.Pro44Leu)	BICC1 (P44L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621211	NM_001080512.3(BICC1):c.138G>T (p.Trp46Cys)	BICC1 (W46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2194261	NM_001080512.3(BICC1):c.171A>G (p.Lys57=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868359	NM_001080512.3(BICC1):c.181A>G (p.Met61Val)	BICC1 (M61V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1571190	NM_001080512.3(BICC1):c.191-18G>A	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933239	NM_001080512.3(BICC1):c.207A>G (p.Lys69=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088367	NM_001080512.3(BICC1):c.237G>A (p.Lys79=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2955429	NM_001080512.3(BICC1):c.237+8G>A	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 31153	NM_001080512.3(BICC1):c.259C>T (p.Gln87Ter)	BICC1 (Q87*)	Single nucleotide variant (nonsense)	Renal dysplasia, cystic, susceptibility to	Grisk factor
Select item 2139140	NM_001080512.3(BICC1):c.288C>T (p.Ile96=)	BICC1	Single nucleotide variant (synonymous 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 2063098	NM_001080512.3(BICC1):c.312C>G (p.Pro104=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2259985	NM_001080512.3(BICC1):c.369G>A (p.Met123Ile)	BICC1 (M123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328431	NM_001080512.3(BICC1):c.387+1G>C	BICC1	Single nucleotide variant (splice donor variant)	Renal agenesis	GLikely pathogenic
Select item 2769545	NM_001080512.3(BICC1):c.387+14A>G	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2477813	NM_001080512.3(BICC1):c.409A>G (p.Met137Val)	BICC1 (M137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 71078	NM_001080512.3(BICC1):c.444C>T (p.Ile148=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2400910	NM_001080512.3(BICC1):c.487G>A (p.Gly163Arg)	BICC1 (G163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1946532	NM_001080512.3(BICC1):c.547-3T>C	BICC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2183691	NM_001080512.3(BICC1):c.549A>G (p.Val183=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080767	NM_001080512.3(BICC1):c.553A>G (p.Ile185Val)	BICC1 (I185V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3234034	NM_001080512.3(BICC1):c.600+1G>A	BICC1	Single nucleotide variant (splice donor variant)	Renal dysplasia, cystic, susceptibility to	GUncertain significance
Select item 2904207	NM_001080512.3(BICC1):c.600+7A>G	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934161	NM_001080512.3(BICC1):c.600+15C>G	BICC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1625728	NM_001080512.3(BICC1):c.601-18C>G	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2200362	NM_001080512.3(BICC1):c.601-7A>G	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052280	NM_001080512.3(BICC1):c.616G>A (p.Val206Met)	BICC1 (V206M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1206085	NM_001080512.3(BICC1):c.637A>G (p.Ile213Val)	BICC1 (I213V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2416779	NM_001080512.3(BICC1):c.656C>T (p.Pro219Leu)	BICC1 (P219L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3260876	NM_001080512.3(BICC1):c.667C>A (p.Pro223Thr)	BICC1 (P223T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510105	NM_001080512.3(BICC1):c.706A>C (p.Asn236His)	BICC1 (N236H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2019353	NM_001080512.3(BICC1):c.707A>C (p.Asn236Thr)	BICC1 (N236T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3235705	NM_001080512.3(BICC1):c.736C>T (p.Arg246Ter)	BICC1 (R246*)	Single nucleotide variant (nonsense)	Renal dysplasia, cystic, susceptibility to	GUncertain significance
Select item 745084	NM_001080512.3(BICC1):c.738A>C (p.Arg246=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016378	NM_001080512.3(BICC1):c.775A>G (p.Asn259Asp)	BICC1 (N259D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2374068	NM_001080512.3(BICC1):c.790G>T (p.Val264Leu)	BICC1 (V264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1613202	NM_001080512.3(BICC1):c.796-14C>A	BICC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1930195	NM_001080512.3(BICC1):c.796-13C>T	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1943791	NM_001080512.3(BICC1):c.796-6T>A	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2145086	NM_001080512.3(BICC1):c.826G>T (p.Ala276Ser)	BICC1 (A276S)	Single nucleotide variant (missense variant)	not specified +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 2009478	NM_001080512.3(BICC1):c.858C>T (p.Ser286=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1975369	NM_001080512.3(BICC1):c.863A>T (p.Gln288Leu)	BICC1 (Q288L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2550398	NM_001080512.3(BICC1):c.890T>C (p.Leu297Pro)	BICC1 (L297P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2779992	NM_001080512.3(BICC1):c.894T>C (p.Phe298=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133845	NM_001080512.3(BICC1):c.905G>A (p.Arg302Gln)	BICC1 (R302Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 830010	NM_001080512.3(BICC1):c.933G>A (p.Met311Ile)	BICC1 (M311I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992392	NM_001080512.3(BICC1):c.937A>G (p.Arg313Gly)	BICC1 (R313G)	Single nucleotide variant (missense variant)	Renal dysplasia, cystic, susceptibility to	GUncertain significance
Select item 2549305	NM_001080512.3(BICC1):c.968C>G (p.Pro323Arg)	BICC1 (P323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2893123	NM_001080512.3(BICC1):c.990T>C (p.Ser330=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710043	NM_001080512.3(BICC1):c.991A>G (p.Thr331Ala)	BICC1 (T331A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 988242	NM_001080512.3(BICC1):c.1005G>T (p.Gln335His)	BICC1 (Q335H)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 1601688	NM_001080512.3(BICC1):c.1038A>G (p.Gln346=)	BICC1	Single nucleotide variant (synonymous variant)	Renal dysplasia, cystic, susceptibility to +1 more	GBenign
Select item 1201256	NM_001080512.3(BICC1):c.1048-205C>T	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846737	NM_001080512.3(BICC1):c.1048-19C>G	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908512	NM_001080512.3(BICC1):c.1048-14G>A	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544689	NM_001080512.3(BICC1):c.1065G>A (p.Val355=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3260874	NM_001080512.3(BICC1):c.1115C>T (p.Ala372Val)	BICC1 (A372V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2068962	NM_001080512.3(BICC1):c.1134T>C (p.Leu378=)	BICC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045754	NM_001080512.3(BICC1):c.1148G>C (p.Ser383Thr)	BICC1 (S383T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2176158	NM_001080512.3(BICC1):c.1150A>G (p.Ile384Val)	BICC1 (I384V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3133838	NM_001080512.3(BICC1):c.1154A>C (p.Lys385Thr)	BICC1 (K385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3236040	NM_001080512.3(BICC1):c.1179+1G>T	BICC1	Single nucleotide variant (splice donor variant)	Renal dysplasia, cystic, susceptibility to	GLikely pathogenic
Select item 1304890	NM_001080512.3(BICC1):c.1179+1G>A	BICC1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1940896	NM_001080512.3(BICC1):c.1179+12G>A	BICC1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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