16046[HGNC] - ClinVar

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Items: 37

	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 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
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 670015	NM_014044.7(UNC50):c.-26C>T	COA5, UNC50	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3060880	NM_014044.7(UNC50):c.-4-46T>A	UNC50 (M1K)	Single nucleotide variant (missense variant +2 more)	UNC50-related disorder	GBenign
Select item 3186569	NM_014044.7(UNC50):c.117C>A (p.Phe39Leu)	UNC50 (F39L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288604	NM_014044.7(UNC50):c.119G>A (p.Arg40His)	UNC50 (R40H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186570	NM_014044.7(UNC50):c.121T>G (p.Phe41Val)	UNC50 (F41V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526996	NM_014044.7(UNC50):c.164A>G (p.Tyr55Cys)	UNC50 (Y72C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 692294	NM_014044.7(UNC50):c.287C>G (p.Thr96Ser)	UNC50 (T96S +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 2350667	NM_014044.7(UNC50):c.313A>G (p.Met105Val)	UNC50 (M105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982439	NM_014044.7(UNC50):c.360A>G (p.Ile120Met)	UNC50 (I120M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2279543	NM_014044.7(UNC50):c.391A>T (p.Thr131Ser)	UNC50 (T148S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337226	NM_014044.7(UNC50):c.422T>C (p.Leu141Ser)	UNC50 (L141S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186571	NM_014044.7(UNC50):c.470T>C (p.Phe157Ser)	UNC50 (F157S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309304	NM_014044.7(UNC50):c.544G>A (p.Val182Ile)	UNC50 (V182I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242982	NM_014044.7(UNC50):c.614A>T (p.Tyr205Phe)	UNC50 (Y205F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186572	NM_014044.7(UNC50):c.617T>C (p.Ile206Thr)	UNC50 (I206T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052492	NM_014044.7(UNC50):c.640A>G (p.Ser214Gly)	UNC50 (S214G +1 more)	Single nucleotide variant (missense variant)	UNC50-related disorder	GBenign
Select item 3060568	NM_014044.7(UNC50):c.644-27dup	UNC50	Duplication (intron variant)	UNC50-related disorder	GBenign
Select item 3056460	NM_014044.7(UNC50):c.644-30T>A	UNC50	Single nucleotide variant (intron variant)	UNC50-related disorder	GBenign
Select item 3056380	NM_014044.7(UNC50):c.644-28_644-27dup	UNC50	Duplication (intron variant)	UNC50-related disorder	GBenign
Select item 3049710	NM_014044.7(UNC50):c.696G>A (p.Leu232=)	UNC50 (D240N)	Single nucleotide variant (missense variant +1 more)	UNC50-related disorder	GLikely benign
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 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 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 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: 37