MB21D2[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ALG3, AP2M1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ABCC5, ABCC5-AS1 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +557 more	Copy number loss	See cases	GPathogenic
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	ACAP2, APOD +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 2609251	NM_178496.4(MB21D2):c.1432G>A (p.Asp478Asn)	MB21D2 (D478N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480098	NM_178496.4(MB21D2):c.1369A>G (p.Lys457Glu)	MB21D2 (K457E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379518	NM_178496.4(MB21D2):c.1226A>C (p.Glu409Ala)	MB21D2 (E409A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272817	NM_178496.4(MB21D2):c.1214C>T (p.Ser405Leu)	MB21D2 (S405L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480849	NM_178496.4(MB21D2):c.1210C>T (p.Arg404Cys)	MB21D2 (R404C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526018	NM_178496.4(MB21D2):c.1178T>G (p.Val393Gly)	MB21D2 (V393G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284626	NM_178496.4(MB21D2):c.1076T>G (p.Leu359Arg)	MB21D2 (L359R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284625	NM_178496.4(MB21D2):c.1075C>G (p.Leu359Val)	MB21D2 (L359V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281134	NM_178496.4(MB21D2):c.1008G>A (p.Met336Ile)	MB21D2 (M336I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252809	NM_178496.4(MB21D2):c.997C>T (p.Arg333Trp)	MB21D2 (R333W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457519	NM_178496.4(MB21D2):c.979A>G (p.Ile327Val)	MB21D2 (I327V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233864	NM_178496.4(MB21D2):c.451C>T (p.Arg151Trp)	MB21D2 (R151W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526670	NM_178496.4(MB21D2):c.449T>G (p.Leu150Arg)	MB21D2 (L150R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493223	NM_178496.4(MB21D2):c.376A>G (p.Lys126Glu)	MB21D2 (K126E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589435	NM_178496.4(MB21D2):c.329G>A (p.Arg110Gln)	MB21D2 (R110Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354163	NM_178496.4(MB21D2):c.292G>T (p.Val98Leu)	MB21D2 (V98L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266813	NM_178496.4(MB21D2):c.205A>C (p.Met69Leu)	MB21D2 (M69L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269695	NM_178496.4(MB21D2):c.152A>G (p.Tyr51Cys)	MB21D2 (Y51C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221546	NM_178496.4(MB21D2):c.103G>A (p.Glu35Lys)	MB21D2 (E35K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339423	NM_178496.4(MB21D2):c.53A>T (p.Asn18Ile)	MB21D2 (N18I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316393	NM_178496.4(MB21D2):c.53A>G (p.Asn18Ser)	MB21D2 (N18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484766	NM_178496.4(MB21D2):c.34G>A (p.Ala12Thr)	LOC129938172, MB21D2 (A12T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062704	GRCh37/hg19 3q28-29(chr3:190400378-192919373)x1	CCDC50, FGF12 +5 more	Copy number loss	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1527068	GRCh37/hg19 3q29(chr3:192607378-194745252)	ATP13A3, ATP13A4 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 814510	GRCh37/hg19 3q28-29(chr3:191987693-192596365)x3	MB21D2, FGF12	Copy number gain	not provided	GLikely benign
Select item 688951	GRCh37/hg19 3q28-29(chr3:191540183-192786688)x3	FGF12, MB21D2	Copy number gain	not provided	GUncertain significance
Select item 686913	GRCh37/hg19 3q29(chr3:192404276-192603062)x3	FGF12, MB21D2	Copy number gain	not provided	GUncertain significance
Select item 686331	GRCh37/hg19 3q29(chr3:192406314-192568208)x1	FGF12, MB21D2	Copy number loss	not provided	GUncertain significance
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562861	GRCh37/hg19 3q29(chr3:192404276-192608460)x3	FGF12, MB21D2	Copy number gain	not provided	GUncertain significance
Select item 562860	GRCh37/hg19 3q29(chr3:192375880-192667110)x3	MB21D2, FGF12	Copy number gain	not provided	GUncertain significance
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 393824	GRCh37/hg19 3q28-29(chr3:192266490-193816606)x3	ATP13A4, ATP13A5 +4 more	Copy number gain	See cases	GUncertain significance
Select item 253860	GRCh37/hg19 3q28-29(chr3:191413759-193081037)x1	MB21D2, PLAAT1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 65