20743[HGNC] - ClinVar

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Items: 38

	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 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 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 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	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 545241	NC_000002.12:g.(?_11177745)_(16113827_?)del	MYCNUT, NBAS +100 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 147945	GRCh38/hg38 2p24.3(chr2:13664310-16228425)x1	DDX1, GACAT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 3119830	NM_145175.4(LRATD1):c.81C>G (p.Asp27Glu)	LRATD1 (D27E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598418	NM_145175.4(LRATD1):c.101C>G (p.Ala34Gly)	LRATD1 (A34G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119824	NM_145175.4(LRATD1):c.120T>G (p.Asp40Glu)	LRATD1 (D40E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3119825	NM_145175.4(LRATD1):c.176C>T (p.Pro59Leu)	LRATD1 (P59L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119826	NM_145175.4(LRATD1):c.410C>T (p.Pro137Leu)	LRATD1 (P137L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119827	NM_145175.4(LRATD1):c.505G>A (p.Ala169Thr)	LRATD1 (A169T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526350	NM_145175.4(LRATD1):c.515C>G (p.Ala172Gly)	LRATD1 (A172G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554648	NM_145175.4(LRATD1):c.613G>C (p.Glu205Gln)	LRATD1 (E205Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119828	NM_145175.4(LRATD1):c.744C>G (p.His248Gln)	LRATD1 (H248Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119829	NM_145175.4(LRATD1):c.809G>A (p.Arg270His)	LRATD1 (R270H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291206	NM_145175.4(LRATD1):c.830G>A (p.Arg277His)	LRATD1 (R277H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494708	NM_145175.4(LRATD1):c.868G>T (p.Asp290Tyr)	LRATD1 (D290Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062616	GRCh37/hg19 2p24.3(chr2:12289529-16104486)x1	DDX1, LRATD1 +4 more	Copy number loss	not specified	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808496	GRCh37/hg19 2p24.3(chr2:14712689-14901673)x1	LRATD1	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1675850	GRCh37/hg19 2p24.3(chr2:14774068-15679480)x1	LRATD1, NBAS	Copy number loss	not provided	GLikely pathogenic
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 686578	GRCh37/hg19 2p24.3-24.2(chr2:12269293-18259781)x3	CYRIA, DDX1 +11 more	Copy number gain	not provided	GPathogenic
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 38