25012[HGNC] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60180	GRCh38/hg38 2p15-14(chr2:63311999-67309291)x1	ACTR2, AFTPH +173 more	Copy number loss	See cases	GPathogenic
Select item 2537142	NM_014181.3(LGALSL):c.14T>C (p.Val5Ala)	LGALSL, LOC129933911 (V5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118512	NM_014181.3(LGALSL):c.34G>A (p.Val12Met)	LGALSL, LOC129933911 (V12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215739	NM_014181.3(LGALSL):c.43G>A (p.Asp15Asn)	LGALSL (D15N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290538	NM_014181.3(LGALSL):c.86C>T (p.Ala29Val)	LGALSL (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599562	NM_014181.3(LGALSL):c.122G>A (p.Cys41Tyr)	LGALSL (C41Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266811	NM_014181.3(LGALSL):c.130A>G (p.Ile44Val)	LGALSL (I44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118511	NM_014181.3(LGALSL):c.274A>G (p.Thr92Ala)	LGALSL (T92A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386010	NM_014181.3(LGALSL):c.326A>T (p.Glu109Val)	LGALSL (E109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782084	NM_014181.3(LGALSL):c.387T>C (p.Leu129=)	LGALSL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3290537	NM_014181.3(LGALSL):c.443A>G (p.Tyr148Cys)	LGALSL (Y148C)	Single nucleotide variant (missense variant)	not specified	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 1526796	GRCh37/hg19 2p14(chr2:64103740-64802404)	AFTPH, LGALSL +3 more	Copy number gain	not specified	GUncertain significance
Select item 687379	GRCh37/hg19 2p15-14(chr2:63536353-65793944)x1	ACTR2, AFTPH +11 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443366	GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1	ACTR2, AFTPH +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443261	GRCh37/hg19 2p15-14(chr2:63234780-67908846)x1	ACTR2, AFTPH +16 more	Copy number loss	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: 23