MIS18BP1[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 2279619	NM_018353.5(MIS18BP1):c.3350T>C (p.Leu1117Ser)	MIS18BP1 (L1117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727385	NM_018353.5(MIS18BP1):c.3241-4A>T	MIS18BP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3126733	NM_018353.5(MIS18BP1):c.3049A>G (p.Asn1017Asp)	MIS18BP1 (N1017D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126732	NM_018353.5(MIS18BP1):c.3012T>G (p.Ser1004Arg)	MIS18BP1 (S1004R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294948	NM_018353.5(MIS18BP1):c.2881A>G (p.Ile961Val)	MIS18BP1 (I961V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126731	NM_018353.5(MIS18BP1):c.2831A>G (p.Lys944Arg)	MIS18BP1 (K944R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307640	NM_018353.5(MIS18BP1):c.2818C>A (p.Pro940Thr)	MIS18BP1 (P940T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461784	NM_018353.5(MIS18BP1):c.2815A>C (p.Lys939Gln)	MIS18BP1 (K939Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325873	NM_018353.5(MIS18BP1):c.2801A>C (p.His934Pro)	MIS18BP1 (H934P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126730	NM_018353.5(MIS18BP1):c.2767A>T (p.Met923Leu)	MIS18BP1 (M923L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469665	NM_018353.5(MIS18BP1):c.2723C>T (p.Ala908Val)	MIS18BP1 (A908V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381323	NM_018353.5(MIS18BP1):c.2693A>G (p.His898Arg)	MIS18BP1 (H898R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490481	NM_018353.5(MIS18BP1):c.2667T>G (p.His889Gln)	MIS18BP1 (H889Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350067	NM_018353.5(MIS18BP1):c.2660A>G (p.Lys887Arg)	MIS18BP1 (K887R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126728	NM_018353.5(MIS18BP1):c.2638T>C (p.Trp880Arg)	MIS18BP1 (W880R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464027	NM_018353.5(MIS18BP1):c.2629G>T (p.Asp877Tyr)	MIS18BP1 (D877Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252143	NM_018353.5(MIS18BP1):c.2629G>A (p.Asp877Asn)	MIS18BP1 (D877N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126727	NM_018353.5(MIS18BP1):c.2602T>G (p.Leu868Val)	MIS18BP1 (L868V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784531	NM_018353.5(MIS18BP1):c.2541T>C (p.Gly847=)	MIS18BP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2313464	NM_018353.5(MIS18BP1):c.2540G>A (p.Gly847Asp)	MIS18BP1 (G847D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 784282	NM_018353.5(MIS18BP1):c.2540G>T (p.Gly847Val)	MIS18BP1 (G847V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2589523	NM_018353.5(MIS18BP1):c.2483T>A (p.Phe828Tyr)	MIS18BP1 (F828Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610262	NM_018353.5(MIS18BP1):c.2470A>G (p.Ser824Gly)	MIS18BP1 (S824G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294949	NM_018353.5(MIS18BP1):c.2399T>C (p.Val800Ala)	MIS18BP1 (V800A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126725	NM_018353.5(MIS18BP1):c.2383A>G (p.Asn795Asp)	MIS18BP1 (N795D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518209	NM_018353.5(MIS18BP1):c.2282C>T (p.Ser761Leu)	MIS18BP1 (S761L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294951	NM_018353.5(MIS18BP1):c.2267A>C (p.Asn756Thr)	MIS18BP1 (N756T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126723	NM_018353.5(MIS18BP1):c.2210T>G (p.Leu737Arg)	MIS18BP1 (L737R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784532	NM_018353.5(MIS18BP1):c.2185T>C (p.Ser729Pro)	MIS18BP1 (S729P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2291997	NM_018353.5(MIS18BP1):c.2078G>C (p.Ser693Thr)	MIS18BP1 (S693T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294954	NM_018353.5(MIS18BP1):c.2060A>C (p.Gln687Pro)	MIS18BP1 (Q687P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272126	NM_018353.5(MIS18BP1):c.2035A>G (p.Thr679Ala)	MIS18BP1 (T679A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396729	NM_018353.5(MIS18BP1):c.1978G>A (p.Val660Met)	MIS18BP1 (V660M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372658	NM_018353.5(MIS18BP1):c.1846A>T (p.Thr616Ser)	MIS18BP1 (T616S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749980	NM_018353.5(MIS18BP1):c.1845A>T (p.Thr615=)	MIS18BP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776834	NM_018353.5(MIS18BP1):c.1699G>A (p.Val567Ile)	MIS18BP1 (V567I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2228473	NM_018353.5(MIS18BP1):c.1694A>T (p.Asp565Val)	MIS18BP1 (D565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789640	NM_018353.5(MIS18BP1):c.1653C>T (p.His551=)	MIS18BP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2538908	NM_018353.5(MIS18BP1):c.1648T>C (p.Cys550Arg)	MIS18BP1 (C550R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461395	NM_018353.5(MIS18BP1):c.1619A>C (p.Glu540Ala)	MIS18BP1 (E540A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380718	NM_018353.5(MIS18BP1):c.1601A>G (p.Lys534Arg)	MIS18BP1 (K534R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776835	NM_018353.5(MIS18BP1):c.1586A>G (p.Asp529Gly)	MIS18BP1 (D529G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3294950	NM_018353.5(MIS18BP1):c.1547C>T (p.Thr516Ile)	MIS18BP1 (T516I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607781	NM_018353.5(MIS18BP1):c.1531G>A (p.Glu511Lys)	MIS18BP1 (E511K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126721	NM_018353.5(MIS18BP1):c.1501A>G (p.Ile501Val)	MIS18BP1 (I501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599462	NM_018353.5(MIS18BP1):c.1309T>G (p.Leu437Val)	MIS18BP1 (L437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330095	NM_018353.5(MIS18BP1):c.1300G>T (p.Val434Phe)	MIS18BP1 (V434F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126720	NM_018353.5(MIS18BP1):c.1275C>G (p.Asn425Lys)	MIS18BP1 (N425K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239081	NM_018353.5(MIS18BP1):c.1268A>G (p.Glu423Gly)	MIS18BP1 (E423G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311909	NM_018353.5(MIS18BP1):c.1231A>G (p.Ile411Val)	MIS18BP1 (I411V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327646	NM_018353.5(MIS18BP1):c.1215G>C (p.Leu405Phe)	MIS18BP1 (L405F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294952	NM_018353.5(MIS18BP1):c.1097C>T (p.Pro366Leu)	MIS18BP1 (P366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486363	NM_018353.5(MIS18BP1):c.1016C>T (p.Thr339Ile)	MIS18BP1 (T339I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126735	NM_018353.5(MIS18BP1):c.989C>T (p.Thr330Ile)	MIS18BP1 (T330I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644213	NM_018353.5(MIS18BP1):c.845A>C (p.Asn282Thr)	MIS18BP1 (N282T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784533	NM_018353.5(MIS18BP1):c.634G>A (p.Ala212Thr)	MIS18BP1 (A212T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776836	NM_018353.5(MIS18BP1):c.490T>C (p.Cys164Arg)	MIS18BP1 (C164R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3126734	NM_018353.5(MIS18BP1):c.354G>C (p.Met118Ile)	MIS18BP1 (M118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735905	NM_018353.5(MIS18BP1):c.338A>G (p.Lys113Arg)	MIS18BP1 (K113R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2475824	NM_018353.5(MIS18BP1):c.283A>G (p.Ile95Val)	MIS18BP1 (I95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378732	NM_018353.5(MIS18BP1):c.263G>T (p.Ser88Ile)	MIS18BP1 (S88I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294953	NM_018353.5(MIS18BP1):c.251C>T (p.Thr84Ile)	MIS18BP1 (T84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126724	NM_018353.5(MIS18BP1):c.235A>C (p.Met79Leu)	MIS18BP1 (M79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381540	NM_018353.5(MIS18BP1):c.211A>G (p.Asn71Asp)	MIS18BP1 (N71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489589	NM_018353.5(MIS18BP1):c.203C>G (p.Thr68Ser)	MIS18BP1 (T68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210125	NM_018353.5(MIS18BP1):c.180G>T (p.Lys60Asn)	MIS18BP1 (K60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612116	NM_018353.5(MIS18BP1):c.170A>C (p.Asp57Ala)	MIS18BP1 (D57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383725	NM_018353.5(MIS18BP1):c.157T>G (p.Leu53Val)	MIS18BP1 (L53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219058	NM_018353.5(MIS18BP1):c.92T>C (p.Phe31Ser)	MIS18BP1 (F31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294955	NM_018353.5(MIS18BP1):c.11C>A (p.Thr4Lys)	MIS18BP1 (T4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	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 988921	GRCh37/hg19 14q21.2(chr14:45528916-46473581)x3	TOGARAM1, FANCM +3 more	Copy number gain	not provided	GUncertain significance
Select item 815652	GRCh37/hg19 14q21.2(chr14:45631762-45764884)x1	FANCM, MIS18BP1	Copy number loss	not provided	GUncertain significance
Select item 815651	GRCh37/hg19 14q21.2(chr14:45361304-46896735)x3	FANCM, FKBP3 +5 more	Copy number gain	not provided	GLikely benign
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 564125	GRCh37/hg19 14q21.2(chr14:45548350-46158043)x3	FANCM, MIS18BP1 +2 more	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

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Items: 86