ClinVar for Gene (Select 1329) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076470	NM_001862.3(COX5B):c.325G>A (p.Glu109Lys)	COX5B (E109K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685860	GRCh37/hg19 2q11.2(chr2:98165095-98974536)x3	ACTR1B, ANKRD36B +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	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 2651169	NM_001862.3(COX5B):c.21C>T (p.Arg7=)	COX5B, LOC129934385	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2556527	NM_001862.3(COX5B):c.335G>A (p.Arg112Gln)	COX5B (R112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527502	NM_001862.3(COX5B):c.93G>T (p.Met31Ile)	COX5B (M31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521666	NM_001862.3(COX5B):c.301G>A (p.Val101Ile)	COX5B (V101I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454194	NM_001862.3(COX5B):c.29G>A (p.Gly10Glu)	COX5B, LOC129934385 (G10E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334973	NM_001862.3(COX5B):c.34C>G (p.Leu12Val)	COX5B, LOC129934385 (L12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334090	NM_001862.3(COX5B):c.12G>C (p.Arg4Ser)	COX5B, LOC129934385 (R4S)	Single nucleotide variant (missense variant)	not specified	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 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 547151	GRCh37/hg19 2q11.2(chr2:98021533-98274335)x3	ACTR1B, ANKRD36B +1 more	Copy number gain	not provided	GLikely benign
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 394928	GRCh37/hg19 2q11.2(chr2:98264419-98274890)x3	ACTR1B, COX5B	Copy number gain	See cases	GLikely benign
Select item 394680	GRCh37/hg19 2q11.2(chr2:98263858-98274890)x3	ACTR1B, COX5B	Copy number gain	See cases	GBenign
Select item 394445	GRCh37/hg19 2q11.2(chr2:98262523-98274890)x3	ACTR1B, COX5B	Copy number gain	See cases	GBenign
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 155611	GRCh38/hg38 2q11.2(chr2:97422165-98203456)x3	ACTR1B, ANKRD36B +32 more	Copy number gain	See cases	GLikely benign
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
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 58877	GRCh38/hg38 2q11.2(chr2:97634165-97841153)x3	ACTR1B, C2orf92 +13 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 31