"DCDC1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041278	NM_001387274.1(DCDC1):c.3178C>T (p.Leu1060Phe)	DCDC1 (L1060F +1 more)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GBenign
Select item 3040380	NM_001387274.1(DCDC1):c.2653A>G (p.Asn885Asp)	DCDC1 (N885D)	Single nucleotide variant (missense variant +2 more)	DCDC1-related disorder	GLikely benign
Select item 3060329	NM_001387274.1(DCDC1):c.2592G>T (p.Arg864Ser)	DCDC1 (R864S)	Single nucleotide variant (missense variant +2 more)	DCDC1-related disorder	GBenign
Select item 3037630	NM_001387274.1(DCDC1):c.2492C>A (p.Thr831Asn)	DCDC1 (T831N)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GBenign
Select item 3051102	NM_001387274.1(DCDC1):c.2308C>G (p.Gln770Glu)	DCDC1 (Q770E)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GBenign
Select item 3041862	NM_001387274.1(DCDC1):c.2298+8C>T	DCDC1	Single nucleotide variant (intron variant)	DCDC1-related disorder	GBenign
Select item 3043008	NM_001387274.1(DCDC1):c.2254T>G (p.Ser752Ala)	DCDC1 (S752A)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GBenign
Select item 3041707	NM_001387274.1(DCDC1):c.2193T>C (p.Ala731=)	DCDC1	Single nucleotide variant (synonymous variant +1 more)	DCDC1-related disorder	GLikely benign
Select item 3049961	NM_001387274.1(DCDC1):c.2052A>G (p.Ala684=)	DCDC1	Single nucleotide variant (synonymous variant +1 more)	DCDC1-related disorder	GLikely benign
Select item 3041812	NM_001387274.1(DCDC1):c.1983+10T>C	DCDC1	Single nucleotide variant (intron variant)	DCDC1-related disorder	GLikely benign
Select item 3044015	NM_001387274.1(DCDC1):c.1955A>G (p.Asp652Gly)	DCDC1 (D652G)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GLikely benign
Select item 3042435	NM_001387274.1(DCDC1):c.1668del (p.Phe556fs)	DCDC1 (F556fs)	Deletion (frameshift variant +1 more)	DCDC1-related disorder	GBenign
Select item 3037505	NM_001387274.1(DCDC1):c.1657A>G (p.Met553Val)	DCDC1 (M553V)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GBenign
Select item 3051975	NM_001387274.1(DCDC1):c.1616A>G (p.Gln539Arg)	DCDC1 (Q539R)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GLikely benign
Select item 3044067	NM_001387274.1(DCDC1):c.1457C>T (p.Thr486Met)	DCDC1 (T486M)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GBenign
Select item 3050983	NM_001387274.1(DCDC1):c.1421A>G (p.Tyr474Cys)	DCDC1 (Y474C)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder	GLikely benign
Select item 3040257	NM_001387274.1(DCDC1):c.961-10dup	DCDC1	Duplication (intron variant)	DCDC1-related disorder	GLikely benign
Select item 2039651	NM_001387274.1(DCDC1):c.754+9G>T	DCDC1, LOC126861175	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 1951466	NM_001387274.1(DCDC1):c.534T>G (p.Ala178=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 813015	NM_001387274.1(DCDC1):c.247G>A (p.Val83Met)	DCDC1 (V83M)	Single nucleotide variant (missense variant +1 more)	DCDC1-related disorder +1 more	GBenign
Select item 3050634	NM_001387274.1(DCDC1):c.164+3A>G	DCDC1	Single nucleotide variant (intron variant)	DCDC1-related disorder	GLikely benign
Select item 1967410	NM_001387274.1(DCDC1):c.20A>G (p.Glu7Gly)	DCDC1 (E7G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign

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Items: 23