5932[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 155388	GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)	LOC130062243, LOC130062244 +111 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
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 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 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 436509	NM_002894.3(RBBP8):c.-1G>A	RBBP8	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2047631	NM_002894.3(RBBP8):c.3G>A (p.Met1Ile)	RBBP8 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1927571	NM_002894.3(RBBP8):c.6C>T (p.Asn2=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142720	NM_002894.3(RBBP8):c.12G>A (p.Ser4=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3313114	NM_002894.3(RBBP8):c.45T>A (p.Asp15Glu)	RBBP8 (D15E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689862	NM_002894.3(RBBP8):c.65A>C (p.Asp22Ala)	RBBP8 (D22A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488836	NM_002894.3(RBBP8):c.74C>T (p.Thr25Ile)	RBBP8 (T25I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733509	NM_002894.3(RBBP8):c.93T>C (p.His31=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 212018	NM_002894.3(RBBP8):c.109+6A>G	RBBP8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1512383	NM_002894.3(RBBP8):c.109+17A>G	RBBP8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1987594	NM_002894.3(RBBP8):c.110-16dup	RBBP8	Duplication (intron variant)	not provided	GBenign
Select item 2994258	NM_002894.3(RBBP8):c.110-18T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987595	NM_002894.3(RBBP8):c.110-15C>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671800	NM_002894.3(RBBP8):c.110-4T>G	RBBP8	Single nucleotide variant (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 1395452	NM_002894.3(RBBP8):c.152+1G>A	RBBP8	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
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 1663834	NM_002894.3(RBBP8):c.153-17del	RBBP8	Deletion (intron variant)	not provided	GLikely benign
Select item 1644467	NM_002894.3(RBBP8):c.153-19T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976286	NM_002894.3(RBBP8):c.153-6C>T	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 2548207	NM_002894.3(RBBP8):c.189T>G (p.Asn63Lys)	RBBP8 (N63K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1336842	NM_002894.3(RBBP8):c.191A>G (p.Gln64Arg)	RBBP8 (Q64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313112	NM_002894.3(RBBP8):c.202G>A (p.Glu68Lys)	RBBP8 (E68K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 739032	NM_002894.3(RBBP8):c.228C>T (p.Thr76=)	RBBP8	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1634423	NM_002894.3(RBBP8):c.248+12A>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2695775	NM_002894.3(RBBP8):c.249-17C>T	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707185	NM_002894.3(RBBP8):c.255A>G (p.Arg85=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1439181	NM_002894.3(RBBP8):c.279A>G (p.Ala93=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117535	NM_002894.3(RBBP8):c.282A>G (p.Val94=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368312	NM_002894.3(RBBP8):c.293A>G (p.His98Arg)	RBBP8 (H98R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2155196	NM_002894.3(RBBP8):c.296T>C (p.Met99Thr)	RBBP8 (M99T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 127245	NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)	RBBP8 (R100W)	Single nucleotide variant (missense variant)	Jawad syndrome +2 more	GConflicting classifications of pathogenicity
Select item 734641	NM_002894.3(RBBP8):c.303A>G (p.Lys101=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1033553	NM_002894.3(RBBP8):c.317_318del (p.Glu105_Phe106insTer)	RBBP8	Deletion (nonsense)	Jawad syndrome	GPathogenic
Select item 2800045	NM_002894.3(RBBP8):c.324T>C (p.Asn108=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414503	NM_002894.3(RBBP8):c.328C>T (p.Arg110Trp)	RBBP8 (R110W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2394043	NM_002894.3(RBBP8):c.331C>A (p.Gln111Lys)	RBBP8 (Q111K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337747	NM_002894.3(RBBP8):c.335A>G (p.Gln112Arg)	RBBP8 (Q112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2063775	NM_002894.3(RBBP8):c.344A>G (p.Lys115Arg)	RBBP8 (K115R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1664206	NM_002894.3(RBBP8):c.354A>G (p.Thr118=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918702	NM_002894.3(RBBP8):c.355G>A (p.Glu119Lys)	RBBP8 (E119K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958798	NM_002894.3(RBBP8):c.361+13T>C	RBBP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3313117	NM_002894.3(RBBP8):c.367G>C (p.Glu123Gln)	RBBP8 (E123Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1324995	NM_002894.3(RBBP8):c.367G>T (p.Glu123Ter)	RBBP8 (E123*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1348139	NM_002894.3(RBBP8):c.368A>G (p.Glu123Gly)	RBBP8 (E123G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736094	NM_002894.3(RBBP8):c.399G>A (p.Lys133=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229963	NM_002894.3(RBBP8):c.425T>C (p.Ile142Thr)	RBBP8 (I142T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1992406	NM_002894.3(RBBP8):c.428+6T>C	RBBP8	Single nucleotide variant (intron variant)	Seckel syndrome 2	GUncertain significance
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 1947045	NM_002894.3(RBBP8):c.438A>G (p.Gln146=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1387131	NM_002894.3(RBBP8):c.446A>G (p.Gln149Arg)	RBBP8 (Q149R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663398	NM_002894.3(RBBP8):c.450A>G (p.Ala150=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2288952	NM_002894.3(RBBP8):c.457C>G (p.Leu153Val)	RBBP8 (L153V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 790192	NM_002894.3(RBBP8):c.492G>A (p.Pro164=)	RBBP8	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2998464	NM_002894.3(RBBP8):c.516C>T (p.Gly172=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082803	NM_002894.3(RBBP8):c.517G>A (p.Val173Ile)	RBBP8 (V173I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1402440	NM_002894.3(RBBP8):c.530G>A (p.Arg177Gln)	RBBP8 (R177Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487070	NM_002894.3(RBBP8):c.538G>T (p.Glu180Ter)	RBBP8 (E180*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 436510	NM_002894.3(RBBP8):c.541A>T (p.Asn181Tyr)	RBBP8 (N181Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548279	NM_002894.3(RBBP8):c.547C>T (p.His183Tyr)	RBBP8 (H183Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212022	NM_002894.3(RBBP8):c.553C>G (p.Arg185Gly)	RBBP8 (R185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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