LOC129933186[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	APOB, APOB-ICR +131 more	Copy number loss	See cases	GPathogenic
Select item 154010	GRCh38/hg38 2p24.1(chr2:19667198-20009783)x3	LINC00954, LOC105373461 +8 more	Copy number gain	See cases	GLikely benign
Select item 538842	NM_020779.4(WDR35):c.2580G>A (p.Met860Ile)	LOC129933186, WDR35 (M871I +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 1385280	NM_020779.4(WDR35):c.2575G>C (p.Gly859Arg)	LOC129933186, WDR35 (G859R +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 774100	NM_020779.4(WDR35):c.2573T>C (p.Val858Ala)	LOC129933186, WDR35 (V869A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2925510	NM_020779.4(WDR35):c.2568C>T (p.Val856=)	LOC129933186, WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 93463	NM_020779.4(WDR35):c.2566G>T (p.Val856Phe)	LOC129933186, WDR35 (V867F +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 3332806	NM_020779.4(WDR35):c.2562G>A (p.Met854Ile)	LOC129933186, WDR35 (M865I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2113061	NM_020779.4(WDR35):c.2559A>T (p.Gln853His)	LOC129933186, WDR35 (Q853H +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 1696886	NM_020779.4(WDR35):c.2555C>T (p.Ala852Val)	LOC129933186, WDR35 (A852V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074139	NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)	LOC129933186, WDR35 (I862V +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance

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Items: 20