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

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

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 334975	NM_000751.3(CHRND):c.*52A>G	CHRND, CHRNG	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 334985	NM_000751.3(CHRND):c.*547G>C	CHRND, CHRNG	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +4 more	GBenign/Likely benign
Select item 334991	NM_000751.3(CHRND):c.*885T>C	CHRND, CHRNG	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 1220112	NC_000002.12:g.232539428C>T	CHRNG	Single nucleotide variant	not provided	GLikely benign
Select item 1194407	NC_000002.12:g.232539565A>T	CHRNG	Single nucleotide variant	not provided	GLikely benign
Select item 1293032	NC_000002.12:g.232539584C>G	CHRNG	Single nucleotide variant	not provided	GBenign
Select item 1296039	NC_000002.12:g.232539628CTGGCTGGG[3]	CHRNG	Microsatellite	not provided	GBenign
Select item 1290181	NM_005199.5(CHRNG):c.55+78G>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 195239	NM_005199.5(CHRNG):c.117dup (p.Asn40fs)	CHRNG (N40fs)	Duplication (frameshift variant)	Autosomal recessive multiple pterygium syndrome +2 more	GPathogenic
Select item 376837	NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)	CHRNG (R42Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 423846	NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr)	CHRNG (A44T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 18341	NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter)	CHRNG (R46*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 259665	NM_005199.5(CHRNG):c.144G>A (p.Ser48=)	CHRNG	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1708855	NM_005199.5(CHRNG):c.194T>C (p.Leu65Pro)	CHRNG (L65P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327696	NM_005199.5(CHRNG):c.195+19G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 397615	NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)	CHRNG (R86C)	Single nucleotide variant (missense variant)	Peripheral neuropathy +3 more	GPathogenic/Likely pathogenic
Select item 3378293	NM_005199.5(CHRNG):c.323G>C (p.Trp108Ser)	CHRNG (W108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1228682	NM_005199.5(CHRNG):c.350+229G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204840	NM_005199.5(CHRNG):c.350+328G>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188426	NM_005199.5(CHRNG):c.351-278TAT[7]	CHRNG	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1179387	NM_005199.5(CHRNG):c.351-278TAT[5]	CHRNG	Microsatellite (intron variant)	not provided	GBenign
Select item 1193457	NM_005199.5(CHRNG):c.351-257T>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278184	NM_005199.5(CHRNG):c.351-254G>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326275	NM_005199.5(CHRNG):c.351-9T>C	CHRNG	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 431955	NM_005199.5(CHRNG):c.397del (p.Ser133fs)	CHRNG (S133fs)	Deletion (frameshift variant)	Autosomal recessive multiple pterygium syndrome +2 more	GPathogenic
Select item 419026	NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)	CHRNG (P134fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 259667	NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr)	CHRND, CHRNG (A149T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 449338	NM_005199.5(CHRNG):c.459dup (p.Val154fs)	CHRNG (V154fs)	Duplication (frameshift variant)	Autosomal recessive multiple pterygium syndrome +3 more	GPathogenic
Select item 1246168	NM_005199.5(CHRNG):c.507-135T>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 198182	NM_005199.5(CHRNG):c.507-13C>T	CHRNG	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 897951	NM_005199.5(CHRNG):c.507-12G>A	CHRNG	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1260524	NM_005199.5(CHRNG):c.604+181T>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200058	NM_005199.5(CHRNG):c.605-173T>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271657	NM_005199.5(CHRNG):c.605-76G>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235325	NM_005199.5(CHRNG):c.605-10_605-3dup	CHRNG	Duplication (intron variant)	not provided	GBenign
Select item 18337	NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)	CHRNG (R239C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1334365	NM_005199.5(CHRNG):c.734TCA[1] (p.Ile246del)	CHRNG (I246del)	Microsatellite (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 18342	NM_005199.5(CHRNG):c.753_754del (p.Val253fs)	CHRNG (V253fs)	Deletion (frameshift variant)	CHRNG-related disorder +5 more	GPathogenic
Select item 1300953	NM_005199.5(CHRNG):c.806-69G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2663395	NM_005199.5(CHRNG):c.806-12G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1221579	NM_005199.5(CHRNG):c.921-97dup	CHRNG	Duplication (intron variant)	not provided	GBenign
Select item 1195734	NM_005199.5(CHRNG):c.920+98_921-97dup	CHRNG	Duplication (intron variant)	not provided	GLikely benign
Select item 1195300	NM_005199.5(CHRNG):c.920+96_921-97dup	CHRNG	Duplication (intron variant)	not provided	GLikely benign
Select item 1178703	NM_005199.5(CHRNG):c.920+97_921-97dup	CHRNG	Duplication (intron variant)	not provided	GBenign
Select item 1249577	NM_005199.5(CHRNG):c.921-97del	CHRNG	Deletion (intron variant)	not provided	GBenign
Select item 1706788	NM_005199.5(CHRNG):c.920+93C>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 801911	NM_005199.5(CHRNG):c.921-68del	CHRNG	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1282133	NM_005199.5(CHRNG):c.921-56C>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301023	NM_005199.5(CHRNG):c.921-40T>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259670	NM_005199.5(CHRNG):c.921-12C>T	CHRNG	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 335007	NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser)	CHRNG (T310S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 199105	NM_005199.5(CHRNG):c.951C>A (p.Ile317=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 259663	NM_005199.5(CHRNG):c.1035+25A>C	CHRNG	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 259664	NM_005199.5(CHRNG):c.1035+49C>T	CHRNG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1238675	NM_005199.5(CHRNG):c.1035+64C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237502	NM_005199.5(CHRNG):c.1035+105A>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181421	NM_005199.5(CHRNG):c.1036-64G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 235269	NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)	TIGD1, CHRNG (S372F)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1301024	NM_005199.5(CHRNG):c.1380+222C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1236773	NM_005199.5(CHRNG):c.1381-300G>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1182590	NM_005199.5(CHRNG):c.1381-217A>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1271623	NM_005199.5(CHRNG):c.1381-210G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1182660	NM_005199.5(CHRNG):c.1381-180del	CHRNG, TIGD1	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1227512	NM_005199.5(CHRNG):c.1381-155G>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1215946	NM_005199.5(CHRNG):c.1381-127C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 289818	NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg)	CHRNG, TIGD1 (G461R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 194064	NM_005199.5(CHRNG):c.1422C>T (p.Arg474=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant)	Autosomal recessive multiple pterygium syndrome +3 more	GBenign
Select item 235605	NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser)	CHRNG, TIGD1 (P506S)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity

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: 70