CD1E[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 549574	NC_000001.10:g.158323371_158352947del29577	CD1E	Deletion	Primary amenorrhea	GLikely benign
Select item 2601710	NM_030893.4(CD1E):c.65A>G (p.Gln22Arg)	CD1E (Q22R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216111	NM_030893.4(CD1E):c.113G>A (p.Arg38His)	CD1E (R38H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411328	NM_030893.4(CD1E):c.154C>T (p.His52Tyr)	CD1E (H52Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392758	NM_030893.4(CD1E):c.223C>T (p.Arg75Cys)	CD1E (R75C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 775146	NM_030893.4(CD1E):c.305A>G (p.His102Arg)	CD1E (H102R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2357201	NM_030893.4(CD1E):c.329C>T (p.Ala110Val)	CD1E (A110V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368730	NM_030893.4(CD1E):c.379G>A (p.Ala127Thr)	CD1E (A28T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268105	NM_030893.4(CD1E):c.428A>G (p.Gln143Arg)	CD1E (Q143R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589274	NM_030893.4(CD1E):c.584C>T (p.Ala195Val)	CD1E (A96V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382657	NM_030893.4(CD1E):c.590T>C (p.Leu197Pro)	CD1E (L197P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329944	NM_030893.4(CD1E):c.769G>C (p.Gly257Arg)	CD1E (G167R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256369	NM_030893.4(CD1E):c.775G>A (p.Val259Ile)	CD1E (V160I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 711776	NM_030893.4(CD1E):c.792C>T (p.Asp264=)	CD1E	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2596242	NM_030893.4(CD1E):c.1030C>T (p.Pro344Ser)	CD1E (P254S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2391592	NM_030893.4(CD1E):c.1039G>C (p.Val347Leu)	CD1E (V245L +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456705	NM_030893.4(CD1E):c.1142A>G (p.Lys381Arg)	CD1E (K279R +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590913	NM_030893.4(CD1E):c.1147C>T (p.Arg383Cys)	CD1E (R284C +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378702	NM_030893.4(CD1E):c.1148G>A (p.Arg383His)	CD1E (R194H +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809095	GRCh37/hg19 1q23.1(chr1:158167184-158427171)x3	CD1A, CD1B +4 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NEK7, OR2L2 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 28