MBIP[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 147567	GRCh38/hg38 14q13.2-13.3(chr14:35514078-36814016)x1	BRMS1L, INSM2 +26 more	Copy number loss	See cases	GPathogenic
Select item 152363	GRCh38/hg38 14q13.2-13.3(chr14:35632641-36420484)x3	BRMS1L, LINC00609 +12 more	Copy number gain	See cases	GUncertain significance
Select item 154357	GRCh38/hg38 14q13.3(chr14:36191711-37228500)x3	LOC108281111, LOC110120901 +19 more	Copy number gain	See cases	GPathogenic
Select item 147628	GRCh38/hg38 14q13.3(chr14:36278291-36318687)x1	MBIP	Copy number loss	See cases	GBenign
Select item 3124069	NM_016586.3(MBIP):c.1012A>G (p.Met338Val)	MBIP (M338V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412168	NM_016586.3(MBIP):c.926A>T (p.Gln309Leu)	MBIP (Q309L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220936	NM_016586.3(MBIP):c.779G>A (p.Arg260Gln)	MBIP (R260Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387240	NM_016586.3(MBIP):c.778C>T (p.Arg260Trp)	MBIP (R260W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277820	NM_016586.3(MBIP):c.772C>T (p.His258Tyr)	MBIP (H258Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366246	NM_016586.3(MBIP):c.722G>A (p.Arg241Gln)	MBIP (R241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206296	NM_016586.3(MBIP):c.596C>T (p.Ala199Val)	MBIP (A199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476018	NM_016586.3(MBIP):c.544T>C (p.Phe182Leu)	MBIP (F182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293534	NM_016586.3(MBIP):c.502G>A (p.Glu168Lys)	MBIP (E168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337954	NM_016586.3(MBIP):c.485G>A (p.Arg162Gln)	MBIP (R162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486419	NM_016586.3(MBIP):c.455T>A (p.Ile152Lys)	MBIP (I152K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559684	NM_016586.3(MBIP):c.193G>A (p.Ala65Thr)	MBIP (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124070	NM_016586.3(MBIP):c.32G>A (p.Ser11Asn)	LOC130055502, MBIP (S11N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256159	NM_016586.3(MBIP):c.19C>T (p.Leu7Phe)	LOC130055502, MBIP (L7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	BAZ1A, BRMS1L +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1879292	GRCh37/hg19 14q13.1-13.3(chr14:34904407-36784136)x1	BAZ1A, BRMS1L +14 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527808	GRCh37/hg19 14q13.2-21.1(chr14:35850213-40138562)	BRMS1L, CLEC14A +20 more	Copy number loss	not specified	GPathogenic
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 687146	GRCh37/hg19 14q13.2-13.3(chr14:36216962-36783249)x1	BRMS1L, MBIP +2 more	Copy number loss	not provided	GUncertain significance
Select item 564135	GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1	BRMS1L, C14orf28 +29 more	Copy number loss	not provided	GPathogenic
Select item 564110	GRCh37/hg19 14q13.2-13.3(chr14:36534357-36843455)x3	MBIP, PTCSC3	Copy number gain	not provided	GLikely benign
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 8972	NC_000014.8:g.(36407609_36463186)_(37638963_37670256)del	MBIP, MIPOL1 +6 more	Deletion	Benign hereditary chorea	GPathogenic

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Items: 46