"GeneDx"[submitter] AND "RBBP8"[gene] - ClinVar

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Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 1267225	NM_002894.3(RBBP8):c.-99+17_-99+24del	RBBP8	Deletion (intron variant)	not provided	GBenign
Select item 684037	NM_002894.3(RBBP8):c.-98-343C>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684038	NM_002894.3(RBBP8):c.-98-336C>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 212018	NM_002894.3(RBBP8):c.109+6A>G	RBBP8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1212649	NM_002894.3(RBBP8):c.109+106G>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202926	NM_002894.3(RBBP8):c.109+225A>G	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219069	NM_002894.3(RBBP8):c.110-300C>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257848	NM_002894.3(RBBP8):c.110-239A>G	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205082	NM_002894.3(RBBP8):c.110-172del	RBBP8	Deletion (intron variant)	not provided	GLikely benign
Select item 392730	NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter)	RBBP8 (Q47*)	Single nucleotide variant (nonsense)	Seckel syndrome 2 +1 more	GLikely pathogenic
Select item 1233294	NM_002894.3(RBBP8):c.152+24A>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200957	NM_002894.3(RBBP8):c.152+153G>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190316	NM_002894.3(RBBP8):c.153-79A>G	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382549	NM_002894.3(RBBP8):c.153-3T>C	RBBP8	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2150681	NM_002894.3(RBBP8):c.220C>T (p.His74Tyr)	RBBP8 (H74Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295463	NM_002894.3(RBBP8):c.248+179G>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200786	NM_002894.3(RBBP8):c.248+210T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234102	NM_002894.3(RBBP8):c.249-286T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206084	NM_002894.3(RBBP8):c.329G>A (p.Arg110Gln)	RBBP8 (R110Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1185715	NM_002894.3(RBBP8):c.361+269dup	RBBP8	Duplication (intron variant)	not provided	GLikely benign
Select item 1249924	NM_002894.3(RBBP8):c.361+269del	RBBP8	Deletion (intron variant)	not provided	GBenign
Select item 509584	NM_002894.3(RBBP8):c.362-7T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512215	NM_002894.3(RBBP8):c.428+18A>C	RBBP8	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 673936	NM_002894.3(RBBP8):c.428+37T>C	RBBP8	Single nucleotide variant (intron variant)	Jawad syndrome +2 more	GBenign
Select item 1258853	NM_002894.3(RBBP8):c.428+167G>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507413	NM_002894.3(RBBP8):c.429-16T>C	RBBP8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 212023	NM_002894.3(RBBP8):c.592G>A (p.Val198Met)	RBBP8 (V198M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 669107	NM_002894.3(RBBP8):c.604+162G>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220319	NM_002894.3(RBBP8):c.605-196A>G	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263878	NM_002894.3(RBBP8):c.605-48TCA[2]	RBBP8	Microsatellite (intron variant)	Seckel syndrome 2 +2 more	GBenign
Select item 1704692	NM_002894.3(RBBP8):c.631A>G (p.Thr211Ala)	RBBP8 (T211A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509855	NM_002894.3(RBBP8):c.709+12dup	RBBP8	Duplication (intron variant)	not specified	GLikely benign
Select item 1174297	NM_002894.3(RBBP8):c.709+139T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274312	NM_002894.3(RBBP8):c.709+269T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670487	NM_002894.3(RBBP8):c.710-247G>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 326221	NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala)	RBBP8 (P246A)	Single nucleotide variant (missense variant)	Seckel syndrome 2 +2 more	GBenign/Likely benign
Select item 1194280	NM_002894.3(RBBP8):c.807+90A>G	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298093	NM_002894.3(RBBP8):c.807+182A>G	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258786	NM_002894.3(RBBP8):c.808-196A>G	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1550614	NM_002894.3(RBBP8):c.808-11del	RBBP8	Deletion (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 392428	NM_002894.3(RBBP8):c.808-8T>C	RBBP8	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 509000	NM_002894.3(RBBP8):c.843G>A (p.Glu281=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1185937	NM_002894.3(RBBP8):c.921-97C>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 130102	NM_002894.3(RBBP8):c.1071A>C (p.Lys357Asn)	RBBP8 (K357N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 130103	NM_002894.3(RBBP8):c.1367A>G (p.His456Arg)	RBBP8 (H456R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 130104	NM_002894.3(RBBP8):c.1644T>C (p.Asp548=)	RBBP8	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 546227	NM_002894.3(RBBP8):c.1748T>A (p.Val583Asp)	RBBP8 (V583D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130105	NM_002894.3(RBBP8):c.1766G>A (p.Arg589His)	RBBP8 (R589H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 326230	NM_002894.3(RBBP8):c.1939+12A>G	RBBP8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1227825	NM_002894.3(RBBP8):c.1939+56A>G	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228214	NM_002894.3(RBBP8):c.1939+63A>G	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257698	NM_002894.3(RBBP8):c.1939+205G>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673956	NM_002894.3(RBBP8):c.1940-156G>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212529	NM_002894.3(RBBP8):c.1940-97G>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174402	NM_002894.3(RBBP8):c.2028+86C>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684045	NM_002894.3(RBBP8):c.2029-253G>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290938	NM_002894.3(RBBP8):c.2029-147G>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673333	NM_002894.3(RBBP8):c.2029-127T>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 130107	NM_002894.3(RBBP8):c.2115G>A (p.Lys705=)	RBBP8	Single nucleotide variant (synonymous variant)	Jawad syndrome +2 more	GBenign
Select item 1251119	NM_002894.3(RBBP8):c.2143+92T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253627	NM_002894.3(RBBP8):c.2144-210G>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245892	NM_002894.3(RBBP8):c.2144-82T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251602	NM_002894.3(RBBP8):c.2287+118G>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673981	NM_002894.3(RBBP8):c.2288-81C>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 546415	NM_002894.3(RBBP8):c.2336C>T (p.Pro779Leu)	RBBP8 (P779L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267910	NM_002894.3(RBBP8):c.2357+130C>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200018	NM_002894.3(RBBP8):c.2357+272G>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201102	NM_002894.3(RBBP8):c.2358-204T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253966	NM_002894.3(RBBP8):c.2455-297_2455-296dup	RBBP8	Duplication (intron variant)	not provided	GLikely benign
Select item 1182552	NM_002894.3(RBBP8):c.2455-296dup	RBBP8	Duplication (intron variant)	not provided	GBenign
Select item 1209144	NM_002894.3(RBBP8):c.2455-296del	RBBP8	Deletion (intron variant)	not provided	GLikely benign
Select item 1211287	NM_002894.3(RBBP8):c.2455-68G>A	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 212021	NM_002894.3(RBBP8):c.2455-4T>G	RBBP8	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 424290	NM_002894.3(RBBP8):c.2515C>T (p.Arg839Ter)	RBBP8 (R839*)	Single nucleotide variant (nonsense +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 326234	NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln)	RBBP8 (R839Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449211	NM_002894.3(RBBP8):c.2579A>C (p.Gln860Pro)	RBBP8 (Q860P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1237279	NM_002894.3(RBBP8):c.2596+123G>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
Select item 3359270	NM_002894.3(RBBP8):c.1379G>A (p.Cys460Tyr)	RBBP8 (C460Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 81