6867[HGNC] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 58307	GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3	ABHD12B, ATL1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 3293137	NM_006575.6(MAP4K5):c.2498A>G (p.His833Arg)	MAP4K5 (H833R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341817	NM_006575.6(MAP4K5):c.2491A>G (p.Thr831Ala)	MAP4K5 (T831A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329218	NM_006575.6(MAP4K5):c.2461G>A (p.Val821Ile)	MAP4K5 (V821I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216147	NM_006575.6(MAP4K5):c.2435G>A (p.Arg812His)	MAP4K5 (R812H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405148	NM_006575.6(MAP4K5):c.2312G>A (p.Arg771His)	MAP4K5 (R771H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484966	NM_006575.6(MAP4K5):c.2288C>T (p.Ala763Val)	MAP4K5 (A763V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297935	NM_006575.6(MAP4K5):c.2215G>A (p.Val739Ile)	MAP4K5 (V739I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 783688	NM_006575.6(MAP4K5):c.2193A>G (p.Val731=)	MAP4K5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3123129	NM_006575.6(MAP4K5):c.2161G>A (p.Ala721Thr)	MAP4K5 (A721T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293136	NM_006575.6(MAP4K5):c.2159G>A (p.Gly720Asp)	MAP4K5 (G720D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533949	NM_006575.6(MAP4K5):c.1987C>G (p.His663Asp)	MAP4K5 (H663D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123126	NM_006575.6(MAP4K5):c.1831G>A (p.Ala611Thr)	MAP4K5 (A611T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347839	NM_006575.6(MAP4K5):c.1793C>G (p.Thr598Ser)	MAP4K5 (T598S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234244	NM_006575.6(MAP4K5):c.1713A>C (p.Lys571Asn)	MAP4K5 (K571N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563907	NM_006575.6(MAP4K5):c.1655G>A (p.Arg552Gln)	MAP4K5 (R552Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287179	NM_006575.6(MAP4K5):c.1545G>T (p.Trp515Cys)	MAP4K5 (W515C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548447	NM_006575.6(MAP4K5):c.1390G>A (p.Ala464Thr)	MAP4K5 (A464T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644227	NM_006575.6(MAP4K5):c.1354A>G (p.Ile452Val)	MAP4K5 (I452V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2266393	NM_006575.6(MAP4K5):c.1303C>G (p.Pro435Ala)	MAP4K5 (P435A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266193	NM_006575.6(MAP4K5):c.1273G>A (p.Ala425Thr)	MAP4K5 (A425T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208071	NM_006575.6(MAP4K5):c.1216T>C (p.Phe406Leu)	MAP4K5 (F406L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533913	NM_006575.6(MAP4K5):c.1156C>T (p.Arg386Cys)	MAP4K5 (R386C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293139	NM_006575.6(MAP4K5):c.1087G>C (p.Asp363His)	MAP4K5 (D363H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254029	NM_006575.6(MAP4K5):c.952C>T (p.Arg318Cys)	MAP4K5 (R318C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123132	NM_006575.6(MAP4K5):c.946A>G (p.Ile316Val)	MAP4K5 (I316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123131	NM_006575.6(MAP4K5):c.805G>C (p.Glu269Gln)	MAP4K5 (E269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123130	NM_006575.6(MAP4K5):c.799A>C (p.Thr267Pro)	MAP4K5 (T267P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612154	NM_006575.6(MAP4K5):c.658G>T (p.Asp220Tyr)	MAP4K5 (D220Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598019	NM_006575.6(MAP4K5):c.625A>G (p.Ile209Val)	MAP4K5 (I209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608672	NM_006575.6(MAP4K5):c.458A>G (p.Asp153Gly)	MAP4K5 (D153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123128	NM_006575.6(MAP4K5):c.189A>T (p.Gln63His)	MAP4K5 (Q63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123127	NM_006575.6(MAP4K5):c.187C>G (p.Gln63Glu)	MAP4K5 (Q63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123125	NM_006575.6(MAP4K5):c.125C>T (p.Thr42Ile)	MAP4K5 (T42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249589	NM_006575.6(MAP4K5):c.110C>T (p.Ala37Val)	MAP4K5 (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219936	NM_006575.6(MAP4K5):c.104A>G (p.Tyr35Cys)	MAP4K5 (Y35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366553	NM_006575.6(MAP4K5):c.31A>G (p.Ile11Val)	MAP4K5 (I11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533559	NM_006575.6(MAP4K5):c.11C>G (p.Pro4Arg)	MAP4K5 (P4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 678056	NM_001127713.1(ATL1):c.-140+55A>T	ATL1, MAP4K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678057	NM_001127713.1(ATL1):c.-140+60G>A	ATL1, MAP4K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262528	NM_001127713.1(ATL1):c.-140+108C>T	ATL1, MAP4K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 313292	NM_001127713.1(ATL1):c.-139-16C>G	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 1308072	NM_015915.5(ATL1):c.19G>A (p.Asp7Asn)	ATL1, MAP4K5 (D7N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094997	NM_015915.5(ATL1):c.22A>C (p.Arg8=)	ATL1, MAP4K5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2969762	NM_015915.5(ATL1):c.26A>G (p.Asn9Ser)	ATL1, MAP4K5 (N9S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 538580	NM_015915.5(ATL1):c.27C>G (p.Asn9Lys)	ATL1, MAP4K5 (N9K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GConflicting classifications of pathogenicity
Select item 471249	NM_015915.5(ATL1):c.30T>C (p.Ser10=)	ATL1, MAP4K5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1416672	NM_015915.5(ATL1):c.33G>C (p.Trp11Cys)	ATL1, MAP4K5 (W11C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2009060	NM_015915.5(ATL1):c.34+3G>C	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 964756	NM_015915.5(ATL1):c.34+4A>G	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2903710	NM_015915.5(ATL1):c.34+6T>G	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 1663913	NM_015915.5(ATL1):c.34+10A>G	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2969844	NM_015915.5(ATL1):c.34+16G>T	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 1962471	NM_015915.5(ATL1):c.34+16G>C	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 513999	NM_015915.5(ATL1):c.34+16G>A	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +1 more	GLikely benign
Select item 1190758	NM_015915.5(ATL1):c.34+109del	ATL1, MAP4K5	Deletion (intron variant)	not provided	GLikely benign
Select item 1268055	NM_015915.5(ATL1):c.34+110G>C	ATL1, MAP4K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3338470	GRCh37/hg19 14q22.1(chr14:50911699-51132124)x4	ATL1, MAP4K5 +1 more	Copy number gain	Neuropathy, hereditary sensory, type 1D	GLikely pathogenic
Select item 3244040	NC_000014.8:g.(?_50697895)_(51288774_?)dup	ATL1, CDKL1 +6 more	Duplication	Noonan syndrome 9	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 1527817	GRCh37/hg19 14q21.3-22.1(chr14:50598842-52261074)	ABHD12B, ATL1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 815655	GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)x3	NEMF, SAV1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688547	GRCh37/hg19 14q22.1(chr14:50992935-51078523)x3	ATL1, MAP4K5	Copy number gain	not provided	GUncertain significance
Select item 564127	GRCh37/hg19 14q22.1(chr14:50977957-51680043)x3	TRIM9, SAV1 +5 more	Copy number gain	not provided	GUncertain significance
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: 70