LOC126861175[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 267195	NC_000011.10:g.30896521_31676711del	PAX6DRR, PAX6_HS8 +11 more	Deletion	Congenital aniridia	GPathogenic
Select item 267196	NC_000011.10:g.30988877_31725876del	DCDC1, DNAJC24 +13 more	Deletion	Congenital aniridia	GPathogenic
Select item 148438	GRCh38/hg38 11p13(chr11:31070635-31535274)x1	DCDC1, DNAJC24 +9 more	Copy number loss	See cases	GUncertain significance
Select item 267197	NC_000011.10:g.31130456_31671718del	DCDC1, DNAJC24 +10 more	Deletion	Congenital aniridia	GPathogenic
Select item 151268	GRCh38/hg38 11p13(chr11:31189295-31701133)x1	DCDC1, DNAJC24 +11 more	Copy number loss	See cases	GPathogenic
Select item 267198	NC_000011.10:g.31256273_31773692del	LOC129390273, LOC129390274 +13 more	Deletion	Congenital aniridia	GPathogenic
Select item 560036	Single allele	DCDC1, DNAJC24 +4 more	Deletion	not provided	GUncertain significance
Select item 147813	GRCh38/hg38 11p13(chr11:31299323-31726083)x1	DCDC1, DNAJC24 +12 more	Copy number loss	See cases	GUncertain significance
Select item 146313	GRCh38/hg38 11p13(chr11:31299323-31790071)x1	DCDC1, DNAJC24 +15 more	Copy number loss	See cases	GPathogenic
Select item 2039651	NM_001387274.1(DCDC1):c.754+9G>T	DCDC1, LOC126861175	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1662881	NM_001387274.1(DCDC1):c.672C>G (p.Leu224=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 1286561	NM_001387274.1(DCDC1):c.600G>A (p.Glu200=)	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 1588336	NM_001387274.1(DCDC1):c.591+13C>T	DCDC1, LOC126861175	Single nucleotide variant (intron variant)	not provided	GBenign
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 1951466	NM_001387274.1(DCDC1):c.534T>G (p.Ala178=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 1407634	NM_001387274.1(DCDC1):c.474G>T (p.Arg158=)	DCDC1, LOC126861175	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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Items: 27