LYG1[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 60183	GRCh38/hg38 2q11.2(chr2:98787057-100785053)x1	AFF3, C2orf15 +56 more	Copy number loss	See cases	GPathogenic
Select item 152516	GRCh38/hg38 2q11.2(chr2:99217507-99295925)x4	LYG1, LYG2	Copy number gain	See cases	GLikely benign
Select item 147769	GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3	AFF3, CHST10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 3121658	NM_174898.3(LYG1):c.518A>G (p.Asp173Gly)	LYG1 (D173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121657	NM_174898.3(LYG1):c.510C>A (p.Ser170Arg)	LYG1 (S170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121656	NM_174898.3(LYG1):c.506G>A (p.Arg169Gln)	LYG1 (R169Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121655	NM_174898.3(LYG1):c.391A>C (p.Thr131Pro)	LYG1 (T131P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292370	NM_174898.3(LYG1):c.355A>G (p.Thr119Ala)	LYG1 (T119A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592925	NM_174898.3(LYG1):c.263G>T (p.Gly88Val)	LYG1 (G88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275282	NM_174898.3(LYG1):c.181G>A (p.Asp61Asn)	LYG1 (D61N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604071	NM_174898.3(LYG1):c.128G>A (p.Arg43His)	LYG1 (R43H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357214	NM_174898.3(LYG1):c.127C>T (p.Arg43Cys)	LYG1 (R43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329521	NM_174898.3(LYG1):c.100C>G (p.Pro34Ala)	LYG1 (P34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533720	NM_174898.3(LYG1):c.48G>C (p.Leu16Phe)	LYG1 (L16F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 1809205	GRCh37/hg19 2q11.2(chr2:99865439-100005128)x1	EIF5B, LYG1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
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 980468	GRCh37/hg19 2q11.2(chr2:99356669-99984607)x3	LYG2, TXNDC9 +8 more	Copy number gain	not provided	GUncertain significance
Select item 814286	GRCh37/hg19 2q11.2(chr2:99870148-100416209)x3	AFF3, LYG1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688876	GRCh37/hg19 2q11.2(chr2:99542665-100190293)x1	AFF3, C2orf15 +10 more	Copy number loss	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
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
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394950	GRCh37/hg19 2q11.2(chr2:99858723-99914955)x1	LYG1, LYG2	Copy number loss	See cases	GBenign
Select item 394949	GRCh37/hg19 2q11.2(chr2:99858723-99914955)x3	LYG1, LYG2	Copy number gain	See cases	GBenign/Likely benign
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic

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Items: 36