ClinVar for Gene (Select 374393) - ClinVar

Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277092	NM_198947.4(FAM111B):c.220T>A (p.Leu74Met)	FAM111B (L44M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277091	NM_198947.4(FAM111B):c.1204T>C (p.Tyr402His)	FAM111B (Y372H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277090	NM_198947.4(FAM111B):c.1540A>G (p.Lys514Glu)	FAM111B (K514E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277089	NM_198947.4(FAM111B):c.1812C>A (p.Asn604Lys)	FAM111B (N574K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277088	NM_198947.4(FAM111B):c.2074T>C (p.Cys692Arg)	FAM111B (C662R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248615	NM_198947.4(FAM111B):c.520C>T (p.Arg174Cys)	FAM111B (R144C +1 more)	Single nucleotide variant (missense variant)	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	GBenign
Select item 3091679	NM_198947.4(FAM111B):c.941C>T (p.Thr314Ile)	FAM111B (T284I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091678	NM_198947.4(FAM111B):c.83A>G (p.Asp28Gly)	FAM111B (D28G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091677	NM_198947.4(FAM111B):c.718T>A (p.Trp240Arg)	FAM111B (W240R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091676	NM_198947.4(FAM111B):c.41C>T (p.Ala14Val)	FAM111B (A14V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091675	NM_198947.4(FAM111B):c.418C>T (p.His140Tyr)	FAM111B (H140Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3091673	NM_198947.4(FAM111B):c.326C>T (p.Ser109Leu)	FAM111B (S109L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091672	NM_198947.4(FAM111B):c.296C>T (p.Ala99Val)	FAM111B (A69V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091671	NM_198947.4(FAM111B):c.2120A>T (p.Asp707Val)	FAM111B (D677V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091670	NM_198947.4(FAM111B):c.1906A>T (p.Thr636Ser)	FAM111B (T606S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091669	NM_198947.4(FAM111B):c.1832T>C (p.Val611Ala)	FAM111B (V581A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091668	NM_198947.4(FAM111B):c.1789G>A (p.Glu597Lys)	FAM111B (E597K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091667	NM_198947.4(FAM111B):c.1709C>G (p.Ser570Cys)	FAM111B (S540C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091666	NM_198947.4(FAM111B):c.1669T>C (p.Phe557Leu)	FAM111B (F527L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091665	NM_198947.4(FAM111B):c.1135G>T (p.Asp379Tyr)	FAM111B (D349Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091664	NM_198947.4(FAM111B):c.1007A>G (p.Asp336Gly)	FAM111B (D336G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3075830	NM_198947.4(FAM111B):c.1880G>C (p.Arg627Thr)	FAM111B (R597T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 3060639	NM_198947.4(FAM111B):c.816dup (p.Ala273fs)	FAM111B (A243fs +1 more)	Duplication (frameshift variant)	FAM111B-related disorder	GBenign
Select item 3058277	NM_198947.4(FAM111B):c.963A>G (p.Arg321=)	FAM111B	Single nucleotide variant (synonymous variant)	FAM111B-related disorder	GLikely benign
Select item 3050428	NM_198947.4(FAM111B):c.280C>T (p.Arg94Cys)	FAM111B (R64C +1 more)	Single nucleotide variant (missense variant)	FAM111B-related disorder	GBenign
Select item 3048163	NM_198947.4(FAM111B):c.1913C>T (p.Thr638Met)	FAM111B (T608M +1 more)	Single nucleotide variant (missense variant)	FAM111B-related disorder	GLikely benign
Select item 3043187	NM_198947.4(FAM111B):c.1776G>A (p.Val592=)	FAM111B	Single nucleotide variant (synonymous variant)	FAM111B-related disorder	GLikely benign
Select item 3037624	NM_198947.4(FAM111B):c.1023A>G (p.Thr341=)	FAM111B	Single nucleotide variant (synonymous variant)	FAM111B-related disorder	GBenign
Select item 2683150	NM_198947.4(FAM111B):c.40G>T (p.Ala14Ser)	FAM111B (A14S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2664927	NM_198947.4(FAM111B):c.1997C>A (p.Thr666Asn)	FAM111B (T636N +1 more)	Single nucleotide variant (missense variant)	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	GUncertain significance
Select item 2641807	NM_198947.4(FAM111B):c.48A>G (p.Glu16=)	FAM111B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2636435	NM_198947.4(FAM111B):c.1462T>G (p.Cys488Gly)	FAM111B (C458G +1 more)	Single nucleotide variant (missense variant)	FAM111B-related disorder	GUncertain significance
Select item 2621456	NM_198947.4(FAM111B):c.67C>A (p.Pro23Thr)	FAM111B (P23T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611059	NM_198947.4(FAM111B):c.991A>T (p.Ser331Cys)	FAM111B (S331C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606106	NM_198947.4(FAM111B):c.2071C>A (p.Leu691Ile)	FAM111B (L661I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600480	NM_198947.4(FAM111B):c.1382T>C (p.Val461Ala)	FAM111B (V431A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594816	NM_198947.4(FAM111B):c.193A>G (p.Thr65Ala)	FAM111B (T35A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554796	NM_198947.4(FAM111B):c.356A>G (p.Glu119Gly)	FAM111B (E119G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546922	NM_198947.4(FAM111B):c.1466G>A (p.Arg489Gln)	FAM111B (R489Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530948	NM_198947.4(FAM111B):c.1117C>T (p.Arg373Trp)	FAM111B (R343W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526617	NM_198947.4(FAM111B):c.1577C>T (p.Pro526Leu)	FAM111B (P526L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522052	NM_198947.4(FAM111B):c.280C>G (p.Arg94Gly)	FAM111B (R64G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517222	NM_198947.4(FAM111B):c.260G>A (p.Gly87Glu)	FAM111B (G57E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2482748	NM_198947.4(FAM111B):c.2132A>G (p.Glu711Gly)	FAM111B (E681G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412841	NM_198947.4(FAM111B):c.1916T>C (p.Leu639Pro)	FAM111B (L609P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2399962	NM_198947.4(FAM111B):c.1612G>A (p.Val538Met)	FAM111B (V538M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397557	NM_198947.4(FAM111B):c.54C>A (p.Asp18Glu)	FAM111B (D18E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381636	NM_198947.4(FAM111B):c.1354G>A (p.Glu452Lys)	FAM111B (E422K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2375301	NM_198947.4(FAM111B):c.255G>C (p.Leu85Phe)	FAM111B (L85F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370892	NM_198947.4(FAM111B):c.1807C>G (p.Pro603Ala)	FAM111B (P603A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367195	NM_198947.4(FAM111B):c.1096C>T (p.Arg366Trp)	FAM111B (R366W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335921	NM_198947.4(FAM111B):c.2060T>C (p.Met687Thr)	FAM111B (M657T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332391	NM_198947.4(FAM111B):c.1619A>G (p.Asn540Ser)	FAM111B (N540S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314327	NM_198947.4(FAM111B):c.164A>C (p.Lys55Thr)	FAM111B (K55T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312368	NM_198947.4(FAM111B):c.45G>A (p.Met15Ile)	FAM111B (M15I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311527	NM_198947.4(FAM111B):c.1559C>G (p.Thr520Arg)	FAM111B (T520R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311103	NM_198947.4(FAM111B):c.1850C>T (p.Thr617Ile)	FAM111B (T617I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295661	NM_198947.4(FAM111B):c.1760T>C (p.Ile587Thr)	FAM111B (I587T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285094	NM_198947.4(FAM111B):c.1538C>T (p.Ala513Val)	FAM111B (A513V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266684	NM_198947.4(FAM111B):c.2051G>A (p.Gly684Asp)	FAM111B (G654D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259453	NM_198947.4(FAM111B):c.885C>A (p.His295Gln)	FAM111B (H265Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255276	NM_198947.4(FAM111B):c.925A>G (p.Lys309Glu)	FAM111B (K279E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2235059	NM_198947.4(FAM111B):c.566T>C (p.Val189Ala)	FAM111B (V159A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1684721	NM_198947.4(FAM111B):c.1461del (p.Cys488fs)	FAM111B (C458fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1676282	NM_198947.4(FAM111B):c.1886T>G (p.Phe629Cys)	FAM111B (F599C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1321437	NM_198947.4(FAM111B):c.103_104del (p.His35fs)	FAM111B (H35fs +1 more)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 1319223	NM_198947.4(FAM111B):c.1301A>C (p.Tyr434Ser)	FAM111B (Y404S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1304171	NM_198947.4(FAM111B):c.1555T>C (p.Tyr519His)	FAM111B (Y489H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301401	NM_198947.4(FAM111B):c.1881A>T (p.Arg627Ser)	FAM111B (R597S +1 more)	Single nucleotide variant (missense variant)	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Gnot provided
Select item 1192526	NM_198947.4(FAM111B):c.1884T>A (p.Ser628Arg)	FAM111B (S598R +1 more)	Single nucleotide variant (missense variant)	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Gnot provided
Select item 1192525	NM_198947.4(FAM111B):c.1247T>C (p.Phe416Ser)	FAM111B (F386S +1 more)	Single nucleotide variant (missense variant)	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Gnot provided
Select item 1050434	NM_198947.4(FAM111B):c.2140G>A (p.Asp714Asn)	FAM111B (D684N +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1033669	NM_198947.4(FAM111B):c.368_369insCT (p.Gln124fs)	FAM111B (Q124fs +1 more)	Insertion (frameshift variant)	not specified +1 more	GUncertain significance
Select item 1030418	NM_198947.4(FAM111B):c.671C>G (p.Ala224Gly)	FAM111B (A194G +1 more)	Single nucleotide variant (missense variant)	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980952	GRCh37/hg19 11q12.1(chr11:58602498-59091934)x3	DTX4, FAM111A +4 more	Copy number gain	not provided	GUncertain significance
Select item 599012	NM_198947.4(FAM111B):c.1462del (p.Cys488fs)	FAM111B (C458fs +1 more)	Deletion (frameshift variant)	Myositis disease +4 more	GLikely pathogenic
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 452429	NM_198947.4(FAM111B):c.1887C>A (p.Phe629Leu)	FAM111B (F629L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 265955	NM_198947.4(FAM111B):c.1874C>A (p.Thr625Asn)	FAM111B (T625N +1 more)	Single nucleotide variant (missense variant)	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Gnot provided
Select item 265954	NM_198947.4(FAM111B):c.1289A>C (p.Gln430Pro)	FAM111B (Q430P +1 more)	Single nucleotide variant (missense variant)	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Gnot provided
Select item 265953	NM_198947.4(FAM111B):c.1262_1264del (p.Lys421del)	FAM111B (K421del +1 more)	Deletion (inframe_deletion)	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Gnot provided
Select item 120219	NM_198947.4(FAM111B):c.1883G>A (p.Ser628Asn)	FAM111B (S628N +1 more)	Single nucleotide variant (missense variant)	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	GPathogenic
Select item 120218	NM_198947.4(FAM111B):c.1879A>G (p.Arg627Gly)	FAM111B (R627G +1 more)	Single nucleotide variant (missense variant)	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	GPathogenic
Select item 120217	NM_198947.4(FAM111B):c.1861T>G (p.Tyr621Asp)	FAM111B (Y621D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 91