ClinVar for Gene (Select 4152) - ClinVar

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Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3124028	NM_015846.4(MBD1):c.1387G>A (p.Ala463Thr)	MBD1 (A215T +26 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124027	NM_015846.4(MBD1):c.1211G>A (p.Arg404His)	MBD1 (R212H +26 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3060893	NM_015846.4(MBD1):c.*204C>T	MBD1	Single nucleotide variant (3 prime UTR variant +2 more)	MBD1-related condition	GBenign
Select item 3060260	NM_015846.4(MBD1):c.792+170C>T	MBD1	Single nucleotide variant (intron variant +1 more)	MBD1-related condition	GBenign
Select item 3060114	NM_015846.4(MBD1):c.1201C>G (p.Pro401Ala)	MBD1 (P153A +26 more)	Single nucleotide variant (missense variant)	MBD1-related condition	GBenign
Select item 3056934	NM_001204141.2(MBD1):c.1689C>T (p.Ser563=)	MBD1	Single nucleotide variant (3 prime UTR variant +1 more)	MBD1-related condition	GBenign
Select item 3055392	NM_015846.4(MBD1):c.664-9C>T	MBD1	Single nucleotide variant (intron variant)	MBD1-related condition	GBenign
Select item 3053644	NM_015846.4(MBD1):c.793-131C>T	MBD1	Single nucleotide variant (intron variant +1 more)	MBD1-related condition	GLikely benign
Select item 3049833	NM_015846.4(MBD1):c.*33-4G>C	MBD1	Single nucleotide variant (3 prime UTR variant +1 more)	MBD1-related condition	GLikely benign
Select item 3046595	NM_015846.4(MBD1):c.1161C>G (p.Pro387=)	MBD1	Single nucleotide variant (synonymous variant)	MBD1-related condition	GLikely benign
Select item 3033289	NM_015846.4(MBD1):c.861G>A (p.Gln287=)	MBD1	Single nucleotide variant (synonymous variant)	MBD1-related condition	GLikely benign
Select item 3024799	NM_015846.4(MBD1):c.*33-211T>G	MBD1 (I545M)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 2689406	NM_015846.4(MBD1):c.1237C>T (p.Arg413Ter)	MBD1 (R165* +26 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2635503	NM_015846.4(MBD1):c.944A>C (p.Glu315Ala)	MBD1 (E146A +7 more)	Single nucleotide variant (missense variant +1 more)	MBD1-related condition	GUncertain significance
Select item 2597795	NM_015846.4(MBD1):c.751C>G (p.Leu251Val)	MBD1 (L226V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545528	NM_015846.4(MBD1):c.1558G>A (p.Val520Ile)	MBD1 (V280I +34 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531588	NM_015846.4(MBD1):c.140T>C (p.Val47Ala)	MBD1 (V47A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487541	NM_015846.4(MBD1):c.76G>A (p.Ala26Thr)	MBD1 (A52T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487540	NM_015846.4(MBD1):c.1342G>A (p.Val448Met)	MBD1 (V279M +26 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467583	NM_015846.4(MBD1):c.949A>G (p.Ile317Val)	MBD1 (I148V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464351	NM_015846.4(MBD1):c.1747C>T (p.Arg583Cys)	MBD1 (R343C +47 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412141	NM_015846.4(MBD1):c.1037G>A (p.Arg346Gln)	MBD1 (R202Q +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393544	NM_015846.4(MBD1):c.1655A>G (p.Lys552Arg)	MBD1 (K403R +45 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366579	NM_015846.4(MBD1):c.286C>T (p.Arg96Trp)	MBD1 (R122W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365487	NM_015846.4(MBD1):c.901A>G (p.Thr301Ala)	MBD1 (T157A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354417	NM_015846.4(MBD1):c.487G>T (p.Ala163Ser)	MBD1 (A163S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334681	NM_015846.4(MBD1):c.1514C>T (p.Thr505Ile)	MBD1 (T257I +34 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306598	NM_015846.4(MBD1):c.757C>A (p.Arg253Ser)	MBD1 (R204S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267730	NM_015846.4(MBD1):c.187G>A (p.Asp63Asn)	MBD1 (D63N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253377	NM_015846.4(MBD1):c.116C>G (p.Thr39Arg)	MBD1 (T39R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226543	NM_015846.4(MBD1):c.1165G>A (p.Val389Ile)	MBD1 (V164I +26 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526617	GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	MAPK4, MBD1 +101 more	Copy number loss	not specified	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1412074	NC_000018.9:g.(?_46570425)_(48604837_?)dup	ACAA2, C18orf32 +14 more	Duplication	not provided	GUncertain significance
Select item 1339508	NM_015846.4(MBD1):c.1304C>T (p.Thr435Ile)	MBD1 (T243I +12 more)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 1326872	Single allele	DLGAP1, DLGAP1-AS2 +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 783070	NM_015846.4(MBD1):c.1353G>A (p.Pro451=)	MBD1	Single nucleotide variant (synonymous variant)	MBD1-related condition +1 more	GLikely benign
Select item 757639	NM_015846.4(MBD1):c.1200C>T (p.Pro400=)	MBD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734848	NM_015846.4(MBD1):c.441G>A (p.Arg147=)	MBD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 686410	GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3	ACAA2, ALPK2 +66 more	Copy number gain	not provided	GPathogenic
Select item 564571	GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	ACAA2, ADNP2 +107 more	Copy number loss	not provided	GPathogenic
Select item 564568	GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3	ACAA2, ATP5F1A +55 more	Copy number gain	not provided	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443274	GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	LINC01879, LMAN1 +101 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443117	GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	TMX3, TNFRSF11A +128 more	Copy number gain	See cases	GPathogenic
Select item 442528	GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	ACAA2, ADNP2 +121 more	Copy number gain	See cases	GPathogenic
Select item 442216	GRCh37/hg19 18q21.1(chr18:47654984-48163538)x3	CFAP53, CXXC1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 441661	GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	WDR7, ZCCHC2 +109 more	Copy number loss	See cases	GPathogenic
Select item 403072	NM_015846.4(MBD1):c.1410G>A (p.Pro470=)	MBD1	Single nucleotide variant (synonymous variant)	MBD1-related condition +1 more	GLikely benign
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
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 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC125371434, LOC125371435 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	ACAA2, ADNP2 +733 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	ACAA2, ADNP2 +1005 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 77