EXTL2[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +194 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 3091298	NM_001033025.3(EXTL2):c.895A>C (p.Lys299Gln)	EXTL2 (K299Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363865	NM_001033025.3(EXTL2):c.834T>A (p.Ser278Arg)	EXTL2 (S277R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332560	NM_001033025.3(EXTL2):c.704C>T (p.Ala235Val)	EXTL2 (A243V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091297	NM_001033025.3(EXTL2):c.493T>G (p.Ser165Ala)	EXTL2 (S165A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091296	NM_001033025.3(EXTL2):c.473C>T (p.Pro158Leu)	EXTL2 (P158L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524127	NM_001033025.3(EXTL2):c.356T>C (p.Ile119Thr)	EXTL2 (I119T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569948	NM_001033025.3(EXTL2):c.320C>A (p.Pro107Gln)	EXTL2 (P107Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484101	NM_001033025.3(EXTL2):c.268C>T (p.Pro90Ser)	EXTL2 (P90S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091295	NM_001033025.3(EXTL2):c.265G>A (p.Val89Ile)	EXTL2 (V97I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2230642	NM_001033025.3(EXTL2):c.113C>T (p.Ala38Val)	EXTL2 (A38V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338084	NM_001033025.3(EXTL2):c.32G>A (p.Gly11Glu)	EXTL2 (G11E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205120	NM_001033025.3(EXTL2):c.16A>G (p.Ile6Val)	EXTL2 (I14V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685521	GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1	AGL, AMY1A +23 more	Copy number loss	not provided	GUncertain significance
Select item 2424320	NC_000001.10:g.(?_100316599)_(101709564_?)dup	AGL, CDC14A +13 more	Duplication	Maple syrup urine disease	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1341033	GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1	AGL, AMY1A +22 more	Copy number loss	not provided	GUncertain significance
Select item 992749	Single allele	AMY1B, AMY1C +10 more	Deletion	Seizure	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	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: 24