ClinVar for Gene (Select 731220) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3026849	NM_001145664.2(RFX8):c.466G>A (p.Gly156Ser)	RFX8 (G156S)	Single nucleotide variant (missense variant +1 more)	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 2684631	GRCh37/hg19 2q11.2-12.2(chr2:101933587-106547126)x1	C2orf49, CREG2 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2651209	NM_001145664.2(RFX8):c.246C>T (p.Asp82=)	RFX8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2553183	NM_001145664.2(RFX8):c.938A>G (p.His313Arg)	RFX8 (H313R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522643	NM_001145664.2(RFX8):c.685G>A (p.Ala229Thr)	RFX8 (A58T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511383	NM_001145664.2(RFX8):c.635A>T (p.Gln212Leu)	RFX8 (Q41L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507507	NM_001145664.2(RFX8):c.47A>C (p.Gln16Pro)	RFX8 (Q16P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495377	NM_001145664.2(RFX8):c.638G>C (p.Gly213Ala)	RFX8 (G42A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2468201	NM_001145664.2(RFX8):c.202G>A (p.Glu68Lys)	RFX8 (E68K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462414	NM_001145664.2(RFX8):c.934T>C (p.Trp312Arg)	RFX8 (W141R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458158	NM_001145664.2(RFX8):c.201C>G (p.Asp67Glu)	RFX8 (D67E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398819	NM_001145664.2(RFX8):c.186G>A (p.Met62Ile)	RFX8 (M62I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365723	NM_001145664.2(RFX8):c.233G>A (p.Arg78Gln)	RFX8 (R78Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2362633	NM_001145664.2(RFX8):c.1180G>T (p.Val394Leu)	RFX8 (V223L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360527	NM_001145664.2(RFX8):c.16G>A (p.Val6Met)	RFX8 (V6M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2348463	NM_001145664.2(RFX8):c.254C>G (p.Thr85Ser)	RFX8 (T85S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337564	NM_001145664.2(RFX8):c.1073A>G (p.Gln358Arg)	RFX8 (Q358R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269511	NM_001145664.2(RFX8):c.862C>A (p.Leu288Met)	RFX8 (L117M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263611	NM_001145664.2(RFX8):c.1048G>T (p.Asp350Tyr)	RFX8 (D179Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257393	NM_001145664.2(RFX8):c.578T>G (p.Leu193Trp)	RFX8 (L193W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244396	NM_001145664.2(RFX8):c.1283G>A (p.Ser428Asn)	RFX8 (S428N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244058	NM_001145664.2(RFX8):c.1291A>C (p.Lys431Gln)	RFX8 (K260Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215914	NM_001145664.2(RFX8):c.632A>G (p.Asn211Ser)	RFX8 (N211S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2215046	NM_001145664.2(RFX8):c.184A>G (p.Met62Val)	RFX8 (M62V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 787239	NM_001145664.2(RFX8):c.57G>C (p.Pro19=)	RFX8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 787238	NM_001145664.2(RFX8):c.305C>T (p.Pro102Leu)	RFX8 (P102L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 771127	NM_001145664.2(RFX8):c.481T>G (p.Leu161Val)	RFX8 (L161V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +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	LINC01935, LINC02946 +205 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 49