ClinVar for Gene (Select 129521) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2555345	NM_001011717.1(NMS):c.251T>C (p.Val84Ala)	NMS (V84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547867	NM_001011717.1(NMS):c.56T>C (p.Met19Thr)	NMS (M19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493414	NM_001011717.1(NMS):c.80T>C (p.Phe27Ser)	NMS (F27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371653	NM_001011717.1(NMS):c.172C>T (p.Arg58Cys)	NMS (R58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356752	NM_001011717.1(NMS):c.383C>T (p.Ala128Val)	NMS (A128V)	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 782803	NM_001011717.1(NMS):c.1A>G (p.Met1Val)	NMS (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562591	GRCh37/hg19 2q11.2(chr2:101022472-101536192)x3	NMS, NPAS2 +2 more	Copy number gain	not provided	GUncertain significance
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 394963	GRCh37/hg19 2q11.2(chr2:100890121-101188008)x3	CHST10, LONRF2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 155610	GRCh38/hg38 2q11.2(chr2:100406992-100919730)x3	CHST10, LINC01849 +8 more	Copy number gain	See cases	GUncertain significance
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 150512	GRCh38/hg38 2q11.2(chr2:100404604-100908738)x3	CHST10, LINC01849 +8 more	Copy number gain	See cases	GLikely benign
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 147769	GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3	AFF3, CHST10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 60183	GRCh38/hg38 2q11.2(chr2:98787057-100785053)x1	AFF3, C2orf15 +56 more	Copy number loss	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 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
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 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28