ClinVar for Gene (Select 284996) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314758	NM_173647.4(RNF149):c.592G>A (p.Gly198Ser)	RNF149 (G198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155102	NM_173647.4(RNF149):c.731A>G (p.Lys244Arg)	RNF149 (K244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155101	NM_173647.4(RNF149):c.724G>C (p.Glu242Gln)	RNF149 (E242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155099	NM_173647.4(RNF149):c.64G>A (p.Ala22Thr)	LOC129934463, RNF149 (A22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155098	NM_173647.4(RNF149):c.43G>A (p.Val15Met)	LOC129934463, RNF149 (V15M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155097	NM_173647.4(RNF149):c.356C>T (p.Thr119Ile)	LOC129934462, RNF149 (T119I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155096	NM_173647.4(RNF149):c.329T>C (p.Val110Ala)	LOC129934462, RNF149 (V110A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155094	NM_173647.4(RNF149):c.1184A>G (p.His395Arg)	RNF149 (H395R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3155093	NM_173647.4(RNF149):c.1148C>T (p.Thr383Met)	RNF149 (T383M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155092	NM_173647.4(RNF149):c.1071C>G (p.Ser357Arg)	RNF149 (S357R)	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 2596505	NM_173647.4(RNF149):c.103C>T (p.Leu35Phe)	LOC129934463, RNF149 (L35F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550509	NM_173647.4(RNF149):c.475G>C (p.Val159Leu)	RNF149 (V159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548810	NM_173647.4(RNF149):c.116C>T (p.Ser39Leu)	LOC129934463, RNF149 (S39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538493	NM_173647.4(RNF149):c.193G>A (p.Gly65Ser)	RNF149 (G65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520659	NM_173647.4(RNF149):c.976G>A (p.Val326Ile)	RNF149 (V326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519047	NM_173647.4(RNF149):c.474A>G (p.Ile158Met)	RNF149 (I158M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476129	NM_173647.4(RNF149):c.770A>G (p.His257Arg)	RNF149 (H257R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473089	NM_173647.4(RNF149):c.733A>G (p.Lys245Glu)	RNF149 (K245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403396	NM_173647.4(RNF149):c.775G>A (p.Glu259Lys)	RNF149 (E259K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326665	NM_173647.4(RNF149):c.444G>C (p.Leu148Phe)	LOC129934461, RNF149 (L148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305220	NM_173647.4(RNF149):c.1105C>T (p.Pro369Ser)	RNF149 (P369S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247839	NM_173647.4(RNF149):c.171C>A (p.Ser57Arg)	RNF149 (S57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245637	NM_173647.4(RNF149):c.578A>G (p.Gln193Arg)	RNF149 (Q193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214887	NM_173647.4(RNF149):c.464C>T (p.Thr155Ile)	RNF149 (T155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210219	NM_173647.4(RNF149):c.677G>A (p.Arg226His)	RNF149 (R226H)	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 1340175	GRCh37/hg19 2q11.2-12.2(chr2:101699537-106383710)x1	C2orf49, CNOT11 +21 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 442619	GRCh37/hg19 2q11.2(chr2:101320204-102094813)x3	CNOT11, CREG2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 154902	GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1	C2orf49, C2orf49-DT +111 more	Copy number loss	See cases	GPathogenic
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 152113	GRCh38/hg38 2q11.2(chr2:100705617-101466731)x3	CNOT11, CREG2 +31 more	Copy number gain	See cases	GUncertain significance
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 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 58878	GRCh38/hg38 2q11.2(chr2:101080018-101646523)x3	CNOT11, CREG2 +22 more	Copy number gain	See cases	GUncertain significance
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: 47