"GeneDx"[submitter] AND "CRELD1"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 144845	GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1	BRK1, CRELD1 +34 more	Copy number loss	See cases	GPathogenic
Select item 1164864	NM_153460.4(IL17RC):c.2133C>G (p.Gly711=)	CRELD1, IL17RC +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1253493	NC_000003.12:g.9933669A>G	CRELD1, LOC129936144	Single nucleotide variant	not provided	GBenign
Select item 1257973	NC_000003.12:g.9933702C>G	CRELD1, LOC129936144	Single nucleotide variant	not provided	GBenign
Select item 1259816	NM_001077415.3(CRELD1):c.-52C>T	CRELD1, LOC129936145	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1279512	NM_001077415.3(CRELD1):c.-19-244T>C	CRELD1, LOC129936145	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1275722	NM_001077415.3(CRELD1):c.-19-86G>T	CRELD1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 137033	NM_001077415.3(CRELD1):c.37= (p.Met13=)	CRELD1	Single nucleotide variant (no sequence alteration +1 more)	not specified +1 more	GBenign
Select item 2211407	NM_001077415.3(CRELD1):c.119C>G (p.Pro40Arg)	CRELD1 (P40R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1311086	NM_001077415.3(CRELD1):c.136T>G (p.Cys46Gly)	CRELD1 (C46G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365809	NM_001077415.3(CRELD1):c.174+5G>A	CRELD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 451405	NM_001077415.3(CRELD1):c.215A>G (p.Asn72Ser)	CRELD1 (N72S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1699713	NM_001077415.3(CRELD1):c.232G>C (p.Glu78Gln)	CRELD1 (E78Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817355	NM_001077415.3(CRELD1):c.254_257del (p.Asp85fs)	CRELD1 (D85fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1223326	NM_001077415.3(CRELD1):c.257+263C>T	CRELD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252369	NM_001077415.3(CRELD1):c.369-39A>G	CRELD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282127	NM_001077415.3(CRELD1):c.461-217A>G	CRELD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263162	NM_001077415.3(CRELD1):c.461-89A>G	CRELD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229493	NM_001077415.3(CRELD1):c.461-88AGGGAG[6]	CRELD1	Microsatellite (intron variant)	not provided	GBenign
Select item 238218	NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr)	CRELD1 (C192Y)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
Select item 1165985	NM_001077415.3(CRELD1):c.659G>A (p.Arg220Gln)	CRELD1 (R220Q)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
Select item 1305555	NM_001077415.3(CRELD1):c.699G>C (p.Lys233Asn)	CRELD1 (K233N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3369656	NM_001077415.3(CRELD1):c.733+2T>A	CRELD1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1308176	NM_001077415.3(CRELD1):c.784T>C (p.Cys262Arg)	CRELD1 (C262R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 841606	NM_001077415.3(CRELD1):c.796dup (p.Glu266fs)	CRELD1 (E266fs)	Duplication (frameshift variant +2 more)	not provided +1 more	GUncertain significance
Select item 3369449	NM_001077415.3(CRELD1):c.800G>C (p.Gly267Ala)	CRELD1 (G267A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2579575	NM_001077415.3(CRELD1):c.848G>C (p.Gly283Ala)	CRELD1 (G255A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 137034	NM_001077415.3(CRELD1):c.912C>T (p.Leu304=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1307344	NM_001077415.3(CRELD1):c.913+5G>A	CRELD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3428	NM_001077415.3(CRELD1):c.932C>T (p.Thr311Ile)	CRELD1 (T311I +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GLikely benign
Select item 137029	NM_001077415.3(CRELD1):c.945G>A (p.Pro315=)	CRELD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 546928	NM_001077415.3(CRELD1):c.959del (p.Gln320fs)	CRELD1 (Q320fs +1 more)	Deletion (frameshift variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
Select item 1809978	NM_001077415.3(CRELD1):c.983A>G (p.Tyr328Cys)	CRELD1 (Y300C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1276154	NM_001077415.3(CRELD1):c.1048+258T>C	CRELD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1408913	NM_001077415.3(CRELD1):c.1049-401C>T	CRELD1 (H375Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 137030	NM_001077415.3(CRELD1):c.1049-393C>T	CRELD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 137031	NM_001077415.3(CRELD1):c.1049-376T>C	CRELD1 (M379T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 534232	NM_001077415.3(CRELD1):c.1049-352C>T	CRELD1 (T387I +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GBenign/Likely benign
Select item 1427379	NM_001077415.3(CRELD1):c.1049-289G>A	CRELD1 (R408H +1 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect, susceptibility to, 2 +1 more	GUncertain significance
Select item 2579857	NM_001077415.3(CRELD1):c.1055C>T (p.Ala352Val)	CRELD1 (A324V +3 more)	Single nucleotide variant (nonsense +3 more)	not provided	GUncertain significance
Select item 2446700	NM_001077415.3(CRELD1):c.1071G>C (p.Glu357Asp)	CRELD1 (E329D +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1311085	NM_001077415.3(CRELD1):c.1090GTG[1] (p.Val365del)	CRELD1 (V337del +1 more)	Microsatellite (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 137032	NM_001077415.3(CRELD1):c.1104G>A (p.Gln368=)	CRELD1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 1207274	NM_001077415.3(CRELD1):c.1156G>A (p.Asp386Asn)	CRELD1 (D358N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 2429682	NM_001077415.3(CRELD1):c.1246T>C (p.Phe416Leu)	CRELD1 (F388L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3368706	NM_001077415.3(CRELD1):c.1252A>G (p.Lys418Glu)	CRELD1 (K390E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 253614	GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1	ARPC4, ARPC4-TTLL3 +39 more	Copy number loss	See cases	GPathogenic
Select item 253334	GRCh37/hg19 3p25.3(chr3:9405337-10168892)x3	MTMR14, IL17RC +21 more	Copy number gain	See cases	GLikely pathogenic
Select item 3361931	NM_001077415.3(CRELD1):c.460+1G>A	CRELD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3360571	NM_001077415.3(CRELD1):c.196dup (p.Asp66fs)	CRELD1 (D66fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3360139	NM_001077415.3(CRELD1):c.82T>G (p.Trp28Gly)	CRELD1 (W28G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 54