EPDR1[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 3089473	NM_017549.5(EPDR1):c.13G>T (p.Ala5Ser)	EPDR1, LOC129998266 (A5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472026	NM_017549.5(EPDR1):c.56T>C (p.Leu19Pro)	EPDR1, LOC129998266 (L19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266881	NM_017549.5(EPDR1):c.116C>A (p.Pro39Gln)	EPDR1, LOC129998266 (P39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515796	NM_017549.5(EPDR1):c.139C>A (p.Gln47Lys)	EPDR1, LOC129998266 (Q47K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238345	NM_017549.5(EPDR1):c.179G>C (p.Gly60Ala)	EPDR1, LOC129998266 (G60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275856	NM_017549.5(EPDR1):c.219C>G (p.Asn73Lys)	EPDR1, LOC129998266 (N73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275859	NM_017549.5(EPDR1):c.223C>A (p.Arg75Ser)	EPDR1, LOC129998266 (R75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257320	NM_017549.5(EPDR1):c.320A>G (p.Asp107Gly)	EPDR1 (D107G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270786	NM_017549.5(EPDR1):c.361C>A (p.Pro121Thr)	EPDR1 (P121T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347609	NM_017549.5(EPDR1):c.362C>T (p.Pro121Leu)	EPDR1 (P121L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601920	NM_017549.5(EPDR1):c.416T>C (p.Ile139Thr)	EPDR1 (I78T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275857	NM_017549.5(EPDR1):c.455C>T (p.Ser152Leu)	EPDR1 (S152L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089474	NM_017549.5(EPDR1):c.518A>G (p.Tyr173Cys)	EPDR1 (Y112C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2257054	NM_017549.5(EPDR1):c.527A>C (p.Gln176Pro)	EPDR1 (Q115P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3089475	NM_017549.5(EPDR1):c.568C>T (p.Arg190Trp)	EPDR1 (R129W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062981	GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1	AMPH, ANLN +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 814958	GRCh37/hg19 7p14.1(chr7:37202606-39500521)x3	ELMO1, AMPH +8 more	Copy number gain	not provided	GUncertain significance
Select item 689243	GRCh37/hg19 7p14.1(chr7:37818456-37987652)x3	EPDR1, NME8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 35