ClinVar for Gene (Select 10227) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3125763	NM_001146069.2(MFSD10):c.962C>T (p.Thr321Ile)	MFSD10 (T321I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125762	NM_001146069.2(MFSD10):c.893A>C (p.His298Pro)	LOC129992084, MFSD10 (H298P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125761	NM_001146069.2(MFSD10):c.875C>T (p.Thr292Met)	LOC129992084, MFSD10 (T292M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125760	NM_001146069.2(MFSD10):c.74T>C (p.Val25Ala)	MFSD10 (V25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125759	NM_001146069.2(MFSD10):c.695C>T (p.Ala232Val)	MFSD10 (A232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125758	NM_001146069.2(MFSD10):c.694G>A (p.Ala232Thr)	MFSD10 (A232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125757	NM_001146069.2(MFSD10):c.691C>T (p.Arg231Trp)	MFSD10 (R231W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125755	NM_001146069.2(MFSD10):c.35G>A (p.Arg12His)	MFSD10 (R12H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125754	NM_001146069.2(MFSD10):c.205G>C (p.Asp69His)	MFSD10 (D69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125753	NM_001146069.2(MFSD10):c.1198C>A (p.Leu400Met)	MFSD10 (H363Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125752	NM_001146069.2(MFSD10):c.1082T>C (p.Val361Ala)	MFSD10 (V361A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	USP17L10, USP17L11 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685956	GRCh37/hg19 4p16.3(chr4:2841240-3197933)x3	ADD1, GRK4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2623321	NM_001146069.2(MFSD10):c.1289C>T (p.Thr430Met)	MFSD10 (R466C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605552	NM_001146069.2(MFSD10):c.905A>C (p.Gln302Pro)	MFSD10, LOC129992084 (Q302P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601270	NM_001146069.2(MFSD10):c.640G>A (p.Asp214Asn)	MFSD10 (D214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597223	NM_001146069.2(MFSD10):c.434C>T (p.Ala145Val)	MFSD10 (A145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	POLN, ZNF518B +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	ABLIM2, ACOX3 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2552634	NM_001146069.2(MFSD10):c.667C>T (p.Pro223Ser)	MFSD10 (P223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542442	NM_001146069.2(MFSD10):c.1352C>A (p.Thr451Lys)	MFSD10 (T451K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541097	NM_001146069.2(MFSD10):c.533C>T (p.Ala178Val)	MFSD10 (A178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526454	NM_001146069.2(MFSD10):c.1000G>A (p.Gly334Arg)	MFSD10 (G334R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2512275	NM_001146069.2(MFSD10):c.1012G>A (p.Ala338Thr)	MFSD10 (A338T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493937	NM_001146069.2(MFSD10):c.1267G>A (p.Gly423Arg)	MFSD10 (G423R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486618	NM_001146069.2(MFSD10):c.377G>T (p.Gly126Val)	MFSD10 (G126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482279	NM_001146069.2(MFSD10):c.817C>T (p.Arg273Cys)	MFSD10 (R273C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478444	NM_001146069.2(MFSD10):c.1277C>G (p.Ala426Gly)	MFSD10 (P462A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459172	NM_001146069.2(MFSD10):c.412C>T (p.Arg138Trp)	MFSD10 (R138W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454235	NM_001146069.2(MFSD10):c.566C>T (p.Thr189Ile)	MFSD10 (T189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	GRK4, HAUS3 +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2406158	NM_001146069.2(MFSD10):c.1120G>A (p.Ala374Thr)	MFSD10 (A374T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402210	NM_001146069.2(MFSD10):c.1037T>C (p.Leu346Pro)	MFSD10 (L346P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387756	NM_001146069.2(MFSD10):c.14G>C (p.Gly5Ala)	MFSD10 (G5A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376593	NM_001146069.2(MFSD10):c.14G>A (p.Gly5Glu)	MFSD10 (G5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371333	NM_001146069.2(MFSD10):c.311C>T (p.Ala104Val)	LOC129992086, MFSD10 (A104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362534	NM_001146069.2(MFSD10):c.124C>A (p.Leu42Met)	MFSD10 (L42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343483	NM_001146069.2(MFSD10):c.899G>A (p.Arg300His)	LOC129992084, MFSD10 (R300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325465	NM_001146069.2(MFSD10):c.521G>A (p.Ser174Asn)	MFSD10 (S174N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319082	NM_001146069.2(MFSD10):c.971G>C (p.Gly324Ala)	MFSD10 (G324A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316195	NM_001146069.2(MFSD10):c.482C>T (p.Thr161Met)	MFSD10 (T161M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307069	NM_001146069.2(MFSD10):c.1048T>C (p.Phe350Leu)	MFSD10 (F350L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305639	NM_001146069.2(MFSD10):c.757C>T (p.Arg253Cys)	MFSD10 (R253C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296382	NM_001146069.2(MFSD10):c.662T>C (p.Phe221Ser)	MFSD10 (F221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286591	NM_001146069.2(MFSD10):c.1127T>G (p.Val376Gly)	MFSD10 (W340G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284010	NM_001146069.2(MFSD10):c.991C>T (p.His331Tyr)	MFSD10 (H331Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281306	NM_001146069.2(MFSD10):c.226G>C (p.Gly76Arg)	MFSD10 (G76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258839	NM_001146069.2(MFSD10):c.977A>G (p.Tyr326Cys)	MFSD10 (Y326C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245507	NM_001146069.2(MFSD10):c.1232G>C (p.Gly411Ala)	MFSD10 (G411A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222462	NM_001146069.2(MFSD10):c.199G>A (p.Gly67Arg)	MFSD10 (G67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216848	NM_001146069.2(MFSD10):c.908T>A (p.Phe303Tyr)	LOC129992084, MFSD10 (F303Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808376	GRCh37/hg19 4p16.3(chr4:2906453-3225478)x3	ADD1, GRK4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	ADD1, ATP5ME +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1374044	NC_000004.11:g.(?_2822345)_(3495228_?)dup	ADD1, DOK7 +8 more	Duplication	not provided	GUncertain significance
Select item 1341125	GRCh37/hg19 4p16.3(chr4:2930651-3362806)x3	ADD1, GRK4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1331015	NM_001146069.2(MFSD10):c.343G>C (p.Gly115Arg)	LOC129992086, MFSD10 (G115R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	CRMP1, RNF212 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1073308	NC_000004.11:g.(?_2200251)_(5710240_?)del	ADRA2C, CYTL1 +28 more	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979467	GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	HGFAC, NOP14 +60 more	Copy number loss	not provided	GPathogenic
Select item 979457	GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1	RGS12, LRPAP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 977788	GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516)	PPP2R2C, RGS12 +32 more	Copy number loss	microdeletion 4p16.3p16.1	GLikely pathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 686294	GRCh37/hg19 4p16.3(chr4:68345-4051616)x3	ADD1, ADRA2C +52 more	Copy number gain	not provided	GPathogenic
Select item 686085	GRCh37/hg19 4p16.3(chr4:2906452-3200275)x3	ADD1, GRK4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 562882	GRCh37/hg19 4p16.3(chr4:2730654-3265710)x3	SH3BP2, TNIP2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562881	GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1	ZFYVE28, SH3BP2 +23 more	Copy number loss	not provided	GPathogenic
Select item 562880	GRCh37/hg19 4p16.3(chr4:1998507-2986076)x3	NAT8L, GRK4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 443978	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	ABLIM2, ACOX3 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 443045	GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	ABLIM2, ACOX3 +130 more	Copy number loss	See cases	GPathogenic
Select item 443042	GRCh37/hg19 4p16.3(chr4:68345-4044985)x1	ADD1, ADRA2C +52 more	Copy number loss	See cases	GPathogenic

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