ClinVar for Gene (Select 64806) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285847	NM_172314.2(IL25):c.106C>A (p.Leu36Met)	IL25 (L36M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285846	NM_172314.2(IL25):c.157C>T (p.Arg53Cys)	IL25 (R53C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109343	NM_172314.2(IL25):c.467G>A (p.Arg156Gln)	IL25 (R156Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109342	NM_172314.2(IL25):c.277C>T (p.Arg93Cys)	IL25 (R93C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109341	NM_172314.2(IL25):c.241G>T (p.Asp81Tyr)	IL25 (D81Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109340	NM_172314.2(IL25):c.170C>A (p.Ser57Tyr)	IL25 (S57Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109339	NM_172314.2(IL25):c.121G>C (p.Val41Leu)	IL25 (V41L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2556691	NM_172314.2(IL25):c.44A>C (p.His15Pro)	IL25 (H15P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463290	NM_172314.2(IL25):c.394G>A (p.Glu132Lys)	IL25 (E132K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2424248	NC_000014.8:g.(?_23586696)_(23902941_?)del	BCL2L2, BCL2L2-PABPN1 +14 more	Deletion	Specific granule deficiency	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 2391621	NM_172314.2(IL25):c.349C>G (p.Leu117Val)	IL25 (L133V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330582	NM_172314.2(IL25):c.440G>A (p.Arg147His)	IL25 (R147H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295733	NM_172314.2(IL25):c.428G>T (p.Arg143Leu)	IL25 (R143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293240	NM_172314.2(IL25):c.382C>G (p.Pro128Ala)	IL25 (P144A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241620	NM_172314.2(IL25):c.265C>G (p.Leu89Val)	IL25 (L105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241330	NM_172314.2(IL25):c.410A>G (p.Lys137Arg)	IL25 (K137R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211994	NM_172314.2(IL25):c.458T>C (p.Val153Ala)	IL25 (V153A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206167	NM_172314.2(IL25):c.55C>T (p.His19Tyr)	IL25 (H19Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203934	NM_172314.2(IL25):c.65G>A (p.Ser22Asn)	IL25 (S22N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 791055	NM_172314.2(IL25):c.473G>A (p.Arg158His)	IL25 (R174H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775101	NM_172314.2(IL25):c.376C>T (p.Arg126Trp)	IL25 (R126W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564100	GRCh37/hg19 14q11.2(chr14:23840034-24057640)x1	AP1G2, CMTM5 +9 more	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 43