2436[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 150377	GRCh38/hg38 22q12.3-13.1(chr22:36904830-37555510)x1	C1QTNF6, CARD10 +62 more	Copy number loss	See cases	GUncertain significance
Select item 1271192	NM_000395.3(CSF2RB):c.-172-230T>C	CSF2RB, LOC130067337	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178164	NM_000395.3(CSF2RB):c.-172-164C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266043	NM_000395.3(CSF2RB):c.-172-108A>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238097	NM_000395.3(CSF2RB):c.-172-64G>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283425	NM_000395.3(CSF2RB):c.-172-45C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215938	NM_000395.3(CSF2RB):c.-129T>G	CSF2RB	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1187413	NM_000395.3(CSF2RB):c.-75C>T	CSF2RB	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1427365	NM_000395.3(CSF2RB):c.1A>T (p.Met1Leu)	CSF2RB (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2970220	NM_000395.3(CSF2RB):c.8T>A (p.Leu3Gln)	CSF2RB (L3Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366699	NM_000395.3(CSF2RB):c.17G>T (p.Gly6Val)	CSF2RB (G6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495547	NM_000395.3(CSF2RB):c.28A>G (p.Met10Val)	CSF2RB (M10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949896	NM_000395.3(CSF2RB):c.36G>A (p.Leu12=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2422111	NM_000395.3(CSF2RB):c.56G>A (p.Arg19His)	CSF2RB (R19H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1644619	NM_000395.3(CSF2RB):c.57C>T (p.Arg19=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168184	NM_000395.3(CSF2RB):c.60C>A (p.Ser20Arg)	CSF2RB (S20R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2758083	NM_000395.3(CSF2RB):c.68G>C (p.Gly23Ala)	CSF2RB (G23A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165704	NM_000395.3(CSF2RB):c.69G>A (p.Gly23=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1498578	NM_000395.3(CSF2RB):c.76+4A>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2081051	NM_000395.3(CSF2RB):c.76+9C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989369	NM_000395.3(CSF2RB):c.76+10G>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987817	NM_000395.3(CSF2RB):c.76+14C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225537	NM_000395.3(CSF2RB):c.76+101C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263392	NM_000395.3(CSF2RB):c.76+121G>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183637	NM_000395.3(CSF2RB):c.76+154G>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275922	NM_000395.3(CSF2RB):c.76+190T>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245390	NM_000395.3(CSF2RB):c.77-277G>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264734	NM_000395.3(CSF2RB):c.77-205T>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2879997	NM_000395.3(CSF2RB):c.77-13C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918755	NM_000395.3(CSF2RB):c.77-12C>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823034	NM_000395.3(CSF2RB):c.77-11C>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009202	NM_000395.3(CSF2RB):c.77-10C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1583805	NM_000395.3(CSF2RB):c.77-10C>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1963499	NM_000395.3(CSF2RB):c.77-9del	CSF2RB	Deletion (intron variant)	not provided	GLikely benign
Select item 1657569	NM_000395.3(CSF2RB):c.77-6T>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743867	NM_000395.3(CSF2RB):c.77-5G>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735044	NM_000395.3(CSF2RB):c.84C>T (p.Ile28=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3000500	NM_000395.3(CSF2RB):c.86C>T (p.Pro29Leu)	CSF2RB (P29L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901109	NM_000395.3(CSF2RB):c.87G>A (p.Pro29=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1482459	NM_000395.3(CSF2RB):c.89T>C (p.Leu30Pro)	CSF2RB (L30P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642214	NM_000395.3(CSF2RB):c.96C>G (p.Thr32=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012208	NM_000395.3(CSF2RB):c.100C>T (p.Arg34Cys)	CSF2RB (R34C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101290	NM_000395.3(CSF2RB):c.100C>A (p.Arg34Ser)	CSF2RB (R34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429654	NM_000395.3(CSF2RB):c.101G>A (p.Arg34His)	CSF2RB (R34H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590595	NM_000395.3(CSF2RB):c.111C>T (p.Asn37=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177111	NM_000395.3(CSF2RB):c.112G>A (p.Asp38Asn)	CSF2RB (D38N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011953	NM_000395.3(CSF2RB):c.117C>T (p.Tyr39=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435738	NM_000395.3(CSF2RB):c.149C>T (p.Thr50Ile)	CSF2RB (T50I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1430211	NM_000395.3(CSF2RB):c.163C>T (p.Arg55Trp)	CSF2RB (R55W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388218	NM_000395.3(CSF2RB):c.164G>A (p.Arg55Gln)	CSF2RB (R55Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172451	NM_000395.3(CSF2RB):c.168C>T (p.Leu56=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1514708	NM_000395.3(CSF2RB):c.169G>A (p.Val57Ile)	CSF2RB (V57I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1414517	NM_000395.3(CSF2RB):c.175G>A (p.Val59Met)	CSF2RB (V59M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385816	NM_000395.3(CSF2RB):c.178A>G (p.Thr60Ala)	CSF2RB (T60A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485508	NM_000395.3(CSF2RB):c.187C>T (p.Arg63Cys)	CSF2RB (R63C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380501	NM_000395.3(CSF2RB):c.188G>A (p.Arg63His)	CSF2RB (R63H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1630832	NM_000395.3(CSF2RB):c.189C>G (p.Arg63=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885260	NM_000395.3(CSF2RB):c.190C>T (p.Arg64Trp)	CSF2RB (R64W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898567	NM_000395.3(CSF2RB):c.191G>A (p.Arg64Gln)	CSF2RB (R64Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021383	NM_000395.3(CSF2RB):c.192G>A (p.Arg64=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1605674	NM_000395.3(CSF2RB):c.195G>A (p.Val65=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930613	NM_000395.3(CSF2RB):c.200+1G>A	CSF2RB	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2959556	NM_000395.3(CSF2RB):c.200+12T>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170100	NM_000395.3(CSF2RB):c.200+16G>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268262	NM_000395.3(CSF2RB):c.200+27C>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221095	NM_000395.3(CSF2RB):c.200+180G>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288895	NM_000395.3(CSF2RB):c.201-294C>T	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181284	NM_000395.3(CSF2RB):c.201-247C>G	LOC126863140, CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288350	NM_000395.3(CSF2RB):c.201-169G>A	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277712	NM_000395.3(CSF2RB):c.201-56T>C	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1937963	NM_000395.3(CSF2RB):c.201-18C>T	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980644	NM_000395.3(CSF2RB):c.201-17G>T	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170943	NM_000395.3(CSF2RB):c.201-17G>A	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2995807	NM_000395.3(CSF2RB):c.201-16T>C	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655278	NM_000395.3(CSF2RB):c.201-12C>G	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705794	NM_000395.3(CSF2RB):c.201-8C>T	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1616065	NM_000395.3(CSF2RB):c.204C>T (p.Asp68=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808512	NM_000395.3(CSF2RB):c.211G>A (p.Glu71Lys)	CSF2RB, LOC126863140 (E71K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827081	NM_000395.3(CSF2RB):c.218T>A (p.Val73Glu)	CSF2RB, LOC126863140 (V73E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1552922	NM_000395.3(CSF2RB):c.237T>C (p.Asp79=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1573849	NM_000395.3(CSF2RB):c.246C>G (p.Pro82=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559404	NM_000395.3(CSF2RB):c.267C>T (p.Pro89=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049837	NM_000395.3(CSF2RB):c.269G>A (p.Arg90His)	CSF2RB, LOC126863140 (R90H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788754	NM_000395.3(CSF2RB):c.273C>T (p.Cys91=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1302214	NM_000395.3(CSF2RB):c.274G>A (p.Val92Met)	CSF2RB, LOC126863140 (V92M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1930484	NM_000395.3(CSF2RB):c.291C>T (p.Val97=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829998	NM_000395.3(CSF2RB):c.299G>T (p.Cys100Phe)	CSF2RB, LOC126863140 (C100F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871431	NM_000395.3(CSF2RB):c.304A>T (p.Ser102Cys)	CSF2RB, LOC126863140 (S102C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887829	NM_000395.3(CSF2RB):c.305G>A (p.Ser102Asn)	CSF2RB, LOC126863140 (S102N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009716	NM_000395.3(CSF2RB):c.312C>T (p.Val104=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1638210	NM_000395.3(CSF2RB):c.313G>A (p.Val105Ile)	CSF2RB, LOC126863140 (V105I)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 5 +1 more	GConflicting classifications of pathogenicity
Select item 2919238	NM_000395.3(CSF2RB):c.318T>C (p.Thr106=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594723	NM_000395.3(CSF2RB):c.321C>T (p.Asp107=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435767	NM_000395.3(CSF2RB):c.322G>A (p.Val108Ile)	CSF2RB, LOC126863140 (V108I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968569	NM_000395.3(CSF2RB):c.323T>C (p.Val108Ala)	CSF2RB, LOC126863140 (V108A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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