Related gene-specific medical variations for Gene (Select 341019) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271036	NM_001387274.1(DCDC1):c.533C>T (p.Ala178Val)	DCDC1, LOC126861175 (A178V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244793	NC_000011.9:g.(?_31305244)_(31349768_?)del	DCDC1	Deletion	not provided	GUncertain significance
Select item 3080420	NM_001387274.1(DCDC1):c.562G>T (p.Ala188Ser)	DCDC1, LOC126861175 (A188S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040658	NM_001387274.1(DCDC1):c.616C>T (p.Leu206=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	DCDC1-related disorder	GLikely benign
Select item 2732816	NM_001387274.1(DCDC1):c.476A>G (p.Asn159Ser)	DCDC1, LOC126861175 (N159S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2617160	NM_001387274.1(DCDC1):c.648C>G (p.Phe216Leu)	DCDC1, LOC126861175 (F216L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251829	NM_001387274.1(DCDC1):c.745A>C (p.Lys249Gln)	DCDC1, LOC126861175 (K249Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2039651	NM_001387274.1(DCDC1):c.754+9G>T	DCDC1, LOC126861175	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2039560	NM_001387274.1(DCDC1):c.717G>A (p.Thr239=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2038236	NM_001387274.1(DCDC1):c.716C>T (p.Thr239Met)	DCDC1, LOC126861175 (T239M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1951466	NM_001387274.1(DCDC1):c.534T>G (p.Ala178=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1951186	NM_001387274.1(DCDC1):c.592-18C>T	DCDC1, LOC126861175	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1662881	NM_001387274.1(DCDC1):c.672C>G (p.Leu224=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1588336	NM_001387274.1(DCDC1):c.591+13C>T	DCDC1, LOC126861175	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1407634	NM_001387274.1(DCDC1):c.474G>T (p.Arg158=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1286561	NM_001387274.1(DCDC1):c.600G>A (p.Glu200=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 395589	GRCh37/hg19 11p13(chr11:31210842-31312348)x1	DCDC1	Copy number loss	See cases	GUncertain significance
Select item 395224	GRCh37/hg19 11p13(chr11:31292909-31357084)x1	DCDC1	Copy number loss	See cases	GLikely benign
Select item 254003	GRCh37/hg19 11p13(chr11:31312348-31345582)x1	DCDC1	Copy number loss	See cases	GUncertain significance
Select item 253711	GRCh37/hg19 11p13(chr11:31311902-31349768)x1	DCDC1	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 20