"Counsyl"[submitter] AND "AOPEP"[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552446	NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?)	AOPEP, FANCC	Duplication (frameshift variant +1 more)	Fanconi anemia complementation group C +1 more	GUncertain significance
Select item 234905	NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	AOPEP, FANCC (R555*)	Single nucleotide variant (nonsense)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 12043	NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	AOPEP, FANCC (L554P)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 370412	NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)	AOPEP, FANCC (S543*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 370395	NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter)	AOPEP, FANCC (W533*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 552605	NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs)	AOPEP, FANCC (Y531fs)	Duplication (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 552933	NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs)	AOPEP, FANCC (E517fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C +1 more	GPathogenic/Likely pathogenic
Select item 556701	NM_000136.3(FANCC):c.1534-1G>T	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group C +1 more	GLikely pathogenic
Select item 552953	NM_000136.3(FANCC):c.1534-2A>G	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 215636	NM_000136.3(FANCC):c.1533+9C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C +1 more	GLikely benign
Select item 371310	NM_000136.3(FANCC):c.1533+2T>C	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 370968	NM_000136.3(FANCC):c.1533+1G>C	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group C +2 more	GConflicting classifications of pathogenicity
Select item 370437	NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)	AOPEP, FANCC (W506*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C +1 more	GPathogenic/Likely pathogenic
Select item 371047	NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter)	FANCC, AOPEP (G500*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 551836	NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)	AOPEP, FANCC (Q473*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 182468	NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)	AOPEP, FANCC (A464fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 370186	NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)	FANCC, AOPEP (Q445*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 219721	NM_000136.3(FANCC):c.1330-8T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 557891	NM_000136.3(FANCC):c.1329+265T>G	AOPEP, FANCC	Single nucleotide variant (stop lost +1 more)	Fanconi anemia complementation group C	GUncertain significance
Select item 553160	NM_000136.3(FANCC):c.1329+246del	AOPEP, FANCC (F487fs)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group C	GLikely benign
Select item 550444	NM_000136.3(FANCC):c.1329+238C>T	AOPEP, FANCC (R484*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 134307	NM_000136.3(FANCC):c.1329+181_1329+183del	AOPEP, FANCC (P465del)	Deletion (inframe_deletion +1 more)	Fanconi anemia complementation group C	GLikely benign
Select item 553533	NM_000136.3(FANCC):c.1329+169C>T	AOPEP, FANCC (Q461*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group C	GUncertain significance
Select item 553463	NM_000136.3(FANCC):c.1329+166_1329+168del	AOPEP, FANCC (G460del)	Deletion (inframe_deletion +1 more)	Fanconi anemia complementation group C	GUncertain significance
Select item 553806	NM_000136.3(FANCC):c.1329+157C>T	AOPEP, FANCC (Q457*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group C	GUncertain significance
Select item 551118	NM_000136.3(FANCC):c.1329+134del	AOPEP, FANCC (A449fs)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group C	GUncertain significance
Select item 237067	NM_000136.3(FANCC):c.1329+5del	AOPEP, FANCC	Deletion (intron variant)	Fanconi anemia complementation group C +1 more	GUncertain significance
Select item 370350	NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)	AOPEP, FANCC (Q437*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 182467	NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	AOPEP, FANCC (G435fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 219717	NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)	FANCC, AOPEP (Y430*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 556133	NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter)	AOPEP, FANCC (S414*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 550052	NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg)	AOPEP, FANCC (W403R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 554474	NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter)	AOPEP, FANCC (W394*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 557322	NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs)	AOPEP, FANCC (S393fs)	Microsatellite (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 218427	NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	AOPEP, FANCC (G388*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 551788	NM_000136.3(FANCC):c.1155-1G>A	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 555232	NM_000136.3(FANCC):c.1151_1152del (p.His384fs)	AOPEP, FANCC (H384fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 370205	NM_000136.3(FANCC):c.1144del (p.Gln382fs)	AOPEP, FANCC (Q382fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 370987	NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)	AOPEP, FANCC (L368fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 554852	NM_000136.3(FANCC):c.1073-1G>C	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 237063	NM_000136.3(FANCC):c.1073-4G>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C +3 more	GConflicting classifications of pathogenicity
Select item 558360	NM_000136.3(FANCC):c.1072+1G>A	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 419252	NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)	AOPEP, FANCC (Q357*)	Single nucleotide variant (nonsense)	Fanconi anemia +3 more	GPathogenic/Likely pathogenic
Select item 370120	NM_000136.3(FANCC):c.1037dup (p.Ser347fs)	FANCC, AOPEP (S347fs)	Duplication (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 555274	NM_000136.3(FANCC):c.996+1G>A	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GLikely pathogenic
Select item 551720	NM_000136.3(FANCC):c.941_943dup (p.Thr314dup)	AOPEP, FANCC	Duplication (inframe_insertion)	Fanconi anemia complementation group C	GUncertain significance
Select item 237077	NM_000136.3(FANCC):c.897-8T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C +2 more	GConflicting classifications of pathogenicity
Select item 219407	NM_000136.3(FANCC):c.844-10_844-8del	AOPEP, FANCC	Deletion (intron variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 216291	NM_000136.3(FANCC):c.843+5G>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 557263	NM_000136.3(FANCC):c.843+1G>C	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group C +1 more	GLikely pathogenic
Select item 127547	NM_000136.3(FANCC):c.843+1G>A	FANCC, AOPEP	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group C +2 more	GPathogenic/Likely pathogenic
Select item 370818	NM_000136.3(FANCC):c.831del (p.Asp278fs)	AOPEP, FANCC (D278fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 420449	NM_000136.3(FANCC):c.808A>T (p.Arg270Ter)	AOPEP, FANCC (R270*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 371252	NM_000136.3(FANCC):c.686+1G>T	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group C +1 more	GLikely pathogenic
Select item 371351	NM_000136.3(FANCC):c.640dup (p.Ile214fs)	AOPEP, FANCC (I214fs)	Duplication (frameshift variant)	Fanconi anemia complementation group C +1 more	GPathogenic/Likely pathogenic
Select item 134305	NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	AOPEP, FANCC (D195V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 552614	NM_000136.3(FANCC):c.558_563del (p.Cys187_Val188del)	AOPEP, FANCC	Deletion (inframe_deletion)	Fanconi anemia complementation group C	GUncertain significance
Select item 235535	NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)	AOPEP, FANCC (R179*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 182499	NM_000136.3(FANCC):c.522-4A>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity

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Items: 59