2433[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 352099	NM_001288705.3(CSF1R):c.*774A>G	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 352100	NM_001288705.3(CSF1R):c.*769A>G	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 905797	NM_001288705.3(CSF1R):c.*768T>G	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 906306	NM_001288705.3(CSF1R):c.*749C>T	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 906307	NM_001288705.3(CSF1R):c.*733G>A	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 352101	NM_001288705.3(CSF1R):c.721_724del	CSF1R	Deletion (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GLikely benign
Select item 352102	NM_001288705.3(CSF1R):c.*715C>T	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 906308	NM_001288705.3(CSF1R):c.*619G>T	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 352103	NM_001288705.3(CSF1R):c.*604A>G	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 352104	NM_001288705.3(CSF1R):c.*561C>T	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 352105	NM_001288705.3(CSF1R):c.*539C>A	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 906309	NM_001288705.3(CSF1R):c.*532G>A	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 352106	NM_001288705.3(CSF1R):c.*531C>T	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 907318	NM_001288705.3(CSF1R):c.*530C>A	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 352107	NM_001288705.3(CSF1R):c.*512T>C	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 352108	NM_001288705.3(CSF1R):c.*500C>T	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 352109	NM_001288705.3(CSF1R):c.*405G>C	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 352110	NM_001288705.3(CSF1R):c.*310C>A	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 907319	NM_001288705.3(CSF1R):c.*263G>C	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 352111	NM_001288705.3(CSF1R):c.*249A>G	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 352113	NM_001288705.3(CSF1R):c.232_233dup	CSF1R	Duplication (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 352112	NM_001288705.3(CSF1R):c.*234del	CSF1R	Deletion (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 903980	NM_001288705.3(CSF1R):c.*233C>A	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 903981	NM_001288705.3(CSF1R):c.*232C>G	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 352114	NM_001288705.3(CSF1R):c.231_232insG	CSF1R	Insertion (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 352115	NM_001288705.3(CSF1R):c.*231C>G	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 903982	NM_001288705.3(CSF1R):c.*230C>A	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 903983	NM_001288705.3(CSF1R):c.*221C>T	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 352116	NM_001288705.3(CSF1R):c.*199A>G	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 352117	NM_001288705.3(CSF1R):c.*156G>A	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 352118	NM_001288705.3(CSF1R):c.*116C>T	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 905863	NM_001288705.3(CSF1R):c.*101T>C	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 352119	NM_001288705.3(CSF1R):c.*64C>T	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GBenign
Select item 905864	NM_001288705.3(CSF1R):c.*56G>A	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 976041	NM_001288705.3(CSF1R):c.35_36delinsTC	CSF1R	Indel (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 352120	NM_001288705.3(CSF1R):c.*36A>C	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 352121	NM_001288705.3(CSF1R):c.*35C>T	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 905865	NM_001288705.3(CSF1R):c.*5T>C	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 931000	NM_001288705.3(CSF1R):c.2916C>G (p.Cys972Trp)	CSF1R (C824W +1 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1314490	NM_001288705.3(CSF1R):c.2912T>A (p.Phe971Tyr)	CSF1R (F823Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 225329	NM_001288705.3(CSF1R):c.2906_2909dup (p.Phe971fs)	CSF1R (F971fs +1 more)	Duplication (frameshift variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 376269	NM_001288705.3(CSF1R):c.2907T>A (p.Tyr969Ter)	CSF1R (Y969* +1 more)	Single nucleotide variant (nonsense +1 more)	Neoplasm	GLikely pathogenic
Select item 376268	NM_001288705.3(CSF1R):c.2907T>G (p.Tyr969Ter)	CSF1R (Y969* +1 more)	Single nucleotide variant (nonsense +1 more)	Neoplasm	GLikely pathogenic
Select item 376271	NM_001288705.3(CSF1R):c.2906A>G (p.Tyr969Cys)	CSF1R (Y969C +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm +1 more	GLikely pathogenic
Select item 376270	NM_001288705.3(CSF1R):c.2906A>T (p.Tyr969Phe)	CSF1R (Y969F +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm +1 more	GLikely pathogenic
Select item 376272	NM_001288705.3(CSF1R):c.2905T>C (p.Tyr969His)	CSF1R (Y969H +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm +1 more	GLikely pathogenic
Select item 3269749	NM_001288705.3(CSF1R):c.2903A>G (p.Asn968Ser)	CSF1R (N820S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3023954	NM_001288705.3(CSF1R):c.2887T>C (p.Leu963=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 352122	NM_001288705.3(CSF1R):c.2886C>T (p.Pro962=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +1 more	GConflicting classifications of pathogenicity
Select item 2875604	NM_001288705.3(CSF1R):c.2885C>T (p.Pro962Leu)	CSF1R (P814L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1661300	NM_001288705.3(CSF1R):c.2874T>C (p.Asp958=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 432746	NM_001288705.3(CSF1R):c.2873A>T (p.Asp958Val)	CSF1R (D958V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1409866	NM_001288705.3(CSF1R):c.2866C>T (p.Gln956Ter)	CSF1R (Q808* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1968815	NM_001288705.3(CSF1R):c.2865G>A (p.Glu955=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2416315	NM_001288705.3(CSF1R):c.2863G>A (p.Glu955Lys)	CSF1R (E807K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 352123	NM_001288705.3(CSF1R):c.2862C>T (p.Cys954=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2967998	NM_001288705.3(CSF1R):c.2860T>C (p.Cys954Arg)	CSF1R (C806R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2418115	NM_001288705.3(CSF1R):c.2858G>A (p.Cys953Tyr)	CSF1R (C805Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1571529	NM_001288705.3(CSF1R):c.2855C>T (p.Thr952Ile)	CSF1R (T804I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2981257	NM_001288705.3(CSF1R):c.2847G>A (p.Glu949=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3077988	NM_001288705.3(CSF1R):c.2843G>A (p.Ser948Asn)	CSF1R (S800N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1470678	NM_001288705.3(CSF1R):c.2843G>C (p.Ser948Thr)	CSF1R (S800T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 714283	NM_001288705.3(CSF1R):c.2841T>C (p.Ser947=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2662177	NM_001288705.3(CSF1R):c.2839T>C (p.Ser947Pro)	CSF1R (S799P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1354894	NM_001288705.3(CSF1R):c.2827GAG[2] (p.Glu945del)	CSF1R (E945del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2854700	NM_001288705.3(CSF1R):c.2833G>A (p.Glu945Lys)	CSF1R (E945K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 720793	NM_001288705.3(CSF1R):c.2829G>A (p.Glu943=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2745424	NM_001288705.3(CSF1R):c.2828A>G (p.Glu943Gly)	CSF1R (E943G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2849828	NM_001288705.3(CSF1R):c.2823G>A (p.Glu941=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1464653	NM_001288705.3(CSF1R):c.2808CAG[6] (p.Ser939_Ser940dup)	CSF1R	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2983171	NM_001288705.3(CSF1R):c.2793_2819del (p.Arg931_Ser939del)	CSF1R	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1481569	NM_001288705.3(CSF1R):c.2808CAG[2] (p.Ser939_Ser940del)	CSF1R	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2001684	NM_001288705.3(CSF1R):c.2797_2817del (p.Gly933_Ser939del)	CSF1R	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1418885	NM_001288705.3(CSF1R):c.2806_2814dup (p.Gly936_Ser938dup)	CSF1R	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2828122	NM_001288705.3(CSF1R):c.2797_2814del (p.Gly933_Ser938del)	CSF1R	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1365098	NM_001288705.3(CSF1R):c.2800GGCAGC[3] (p.934GS[3])	CSF1R	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2777853	NM_001288705.3(CSF1R):c.2806_2808dup (p.Gly936_Ser937insGly)	CSF1R	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2682172	NM_001288705.3(CSF1R):c.2809A>G (p.Ser937Gly)	CSF1R (S789G +1 more)	Single nucleotide variant (missense variant +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GUncertain significance
Select item 1557585	NM_001288705.3(CSF1R):c.2806G>A (p.Gly936Ser)	CSF1R (G788S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1515375	NM_001288705.3(CSF1R):c.2785_2805del (p.Ser929_Ser935del)	CSF1R	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 352124	NM_001288705.3(CSF1R):c.2805C>T (p.Ser935=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1915100	NM_001288705.3(CSF1R):c.2803A>G (p.Ser935Gly)	CSF1R (S787G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2578985	NM_001288705.3(CSF1R):c.2801G>T (p.Gly934Val)	CSF1R (G786V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 352125	NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2415792	NM_001288705.3(CSF1R):c.2797G>A (p.Gly933Ser)	CSF1R (G785S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 352126	NM_001288705.3(CSF1R):c.2796C>T (p.Ser932=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1906792	NM_001288705.3(CSF1R):c.2792G>A (p.Arg931Lys)	CSF1R (R931K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2374075	NM_001288705.3(CSF1R):c.2788A>T (p.Ser930Cys)	CSF1R (S782C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1564083	NM_001288705.3(CSF1R):c.2784C>T (p.Ser928=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009665	NM_001288705.3(CSF1R):c.2782A>G (p.Ser928Gly)	CSF1R (S928G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2176912	NM_001288705.3(CSF1R):c.2781G>A (p.Pro927=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1979100	NM_001288705.3(CSF1R):c.2780C>T (p.Pro927Leu)	CSF1R (P779L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2090059	NM_001288705.3(CSF1R):c.2778G>A (p.Leu926=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2583156	NM_001288705.3(CSF1R):c.2768A>G (p.Tyr923Cys)	CSF1R (Y775C +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1	GLikely pathogenic
Select item 3003433	NM_001288705.3(CSF1R):c.2764-16T>A	CSF1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1263989	NM_001288705.3(CSF1R):c.2763+28G>C	CSF1R	Single nucleotide variant (intron variant)	not provided	GBenign

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