ClinVar for Gene (Select 162333) - ClinVar

Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293283	NM_152598.4(MARCHF10):c.1144A>G (p.Arg382Gly)	LOC105371855, MARCHF10 (R382G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3293282	NM_152598.4(MARCHF10):c.1931A>C (p.Gln644Pro)	LOC105371855, MARCHF10 (Q643P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293281	NM_152598.4(MARCHF10):c.1096C>T (p.Arg366Trp)	LOC105371855, MARCHF10 (R365W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3123428	NM_152598.4(MARCHF10):c.926G>A (p.Cys309Tyr)	LOC105371855, MARCHF10 (C308Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123427	NM_152598.4(MARCHF10):c.922C>T (p.Pro308Ser)	LOC105371855, MARCHF10 (P346S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123426	NM_152598.4(MARCHF10):c.916C>T (p.Arg306Cys)	LOC105371855, MARCHF10 (R344C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123425	NM_152598.4(MARCHF10):c.840G>T (p.Leu280Phe)	LOC105371855, MARCHF10 (L279F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123424	NM_152598.4(MARCHF10):c.668C>T (p.Pro223Leu)	LOC105371855, MARCHF10 (P222L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3123423	NM_152598.4(MARCHF10):c.572C>G (p.Thr191Ser)	LOC105371855, MARCHF10 (T191S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123422	NM_152598.4(MARCHF10):c.570C>A (p.Asn190Lys)	LOC105371855, MARCHF10 (N189K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123421	NM_152598.4(MARCHF10):c.261A>G (p.Ile87Met)	MARCHF10 (I87M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123420	NM_152598.4(MARCHF10):c.2407T>G (p.Ser803Ala)	MARCHF10 (S803A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123419	NM_152598.4(MARCHF10):c.2179A>G (p.Met727Val)	LOC105371855, MARCHF10 (M765V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123418	NM_152598.4(MARCHF10):c.2116G>A (p.Gly706Ser)	LOC105371855, MARCHF10 (G706S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123417	NM_152598.4(MARCHF10):c.2097A>G (p.Ile699Met)	LOC105371855, LOC130061377 +1 more (I737M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123416	NM_152598.4(MARCHF10):c.2002T>C (p.Ser668Pro)	LOC105371855, MARCHF10 (S706P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123415	NM_152598.4(MARCHF10):c.1979G>A (p.Arg660His)	LOC105371855, MARCHF10 (R659H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123414	NM_152598.4(MARCHF10):c.1801T>C (p.Phe601Leu)	LOC105371855, MARCHF10 (F600L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123412	NM_152598.4(MARCHF10):c.1702G>A (p.Gly568Ser)	LOC105371855, MARCHF10 (G606S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3123411	NM_152598.4(MARCHF10):c.1619C>T (p.Ala540Val)	LOC105371855, MARCHF10 (A578V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123410	NM_152598.4(MARCHF10):c.1612G>A (p.Glu538Lys)	LOC105371855, MARCHF10 (E537K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123409	NM_152598.4(MARCHF10):c.1430T>C (p.Met477Thr)	LOC105371855, MARCHF10 (M476T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123408	NM_152598.4(MARCHF10):c.1367C>A (p.Ser456Tyr)	LOC105371855, MARCHF10 (S456Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123407	NM_152598.4(MARCHF10):c.1074T>G (p.Asn358Lys)	LOC105371855, MARCHF10 (N358K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3123406	NM_152598.4(MARCHF10):c.1052A>G (p.His351Arg)	LOC105371855, MARCHF10 (H351R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3059595	NM_152598.4(MARCHF10):c.956T>C (p.Phe319Ser)	LOC105371855, MARCHF10 (F318S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GBenign
Select item 3059368	NM_152598.4(MARCHF10):c.1602C>T (p.Asn534=)	LOC105371855, MARCHF10	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GBenign
Select item 3058943	NM_152598.4(MARCHF10):c.383-2335T>C	MARCHF10	Single nucleotide variant (intron variant +1 more)	MARCHF10-related disorder	GBenign
Select item 3056772	NM_152598.4(MARCHF10):c.1285C>T (p.His429Tyr)	LOC105371855, MARCHF10 (H428Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GBenign
Select item 3056124	NM_152598.4(MARCHF10):c.1679C>T (p.Thr560Ile)	LOC105371855, MARCHF10 (T559I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GBenign
Select item 3054668	NM_152598.4(MARCHF10):c.1674A>C (p.Leu558=)	LOC105371855, MARCHF10	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GLikely benign
Select item 3053258	NM_152598.4(MARCHF10):c.2329-9T>G	MARCHF10	Single nucleotide variant (intron variant)	MARCHF10-related disorder	GBenign
Select item 3053110	NM_152598.4(MARCHF10):c.1478C>T (p.Ser493Leu)	LOC105371855, MARCHF10 (S492L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GBenign
Select item 3053092	NM_152598.4(MARCHF10):c.1985G>A (p.Cys662Tyr)	LOC105371855, MARCHF10 (C661Y +2 more)	Single nucleotide variant (missense variant)	MARCHF10-related disorder	GBenign
Select item 3052226	NM_152598.4(MARCHF10):c.91-15GTT[2]	MARCHF10	Microsatellite (intron variant)	MARCHF10-related disorder	GLikely benign
Select item 3049263	NM_152598.4(MARCHF10):c.365C>T (p.Pro122Leu)	MARCHF10 (P122L)	Single nucleotide variant (missense variant)	MARCHF10-related disorder	GLikely benign
Select item 3049235	NM_152598.4(MARCHF10):c.617C>T (p.Ser206Leu)	LOC105371855, MARCHF10 (S205L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GLikely benign
Select item 3045951	NM_152598.4(MARCHF10):c.370G>A (p.Glu124Lys)	MARCHF10 (E124K)	Single nucleotide variant (missense variant)	MARCHF10-related disorder	GLikely benign
Select item 3044470	NM_152598.4(MARCHF10):c.241C>T (p.Pro81Ser)	MARCHF10 (P81S)	Single nucleotide variant (missense variant)	MARCHF10-related disorder	GBenign
Select item 3044152	NM_152598.4(MARCHF10):c.1299C>T (p.Thr433=)	LOC105371855, MARCHF10	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GLikely benign
Select item 3043871	NM_152598.4(MARCHF10):c.1275T>C (p.Ile425=)	LOC105371855, MARCHF10	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GBenign
Select item 3043795	NM_152598.4(MARCHF10):c.669G>A (p.Pro223=)	LOC105371855, MARCHF10	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GBenign
Select item 3043695	NM_152598.4(MARCHF10):c.1759G>A (p.Gly587Ser)	LOC105371855, MARCHF10 (G586S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GBenign
Select item 3038174	NM_152598.4(MARCHF10):c.2031C>T (p.Cys677=)	LOC105371855, MARCHF10	Single nucleotide variant (synonymous variant)	MARCHF10-related disorder	GLikely benign
Select item 3036425	NM_152598.4(MARCHF10):c.2404A>G (p.Ile802Val)	MARCHF10 (I802V +1 more)	Single nucleotide variant (missense variant)	MARCHF10-related disorder	GLikely benign
Select item 3034249	NM_152598.4(MARCHF10):c.1464C>T (p.Asp488=)	LOC105371855, MARCHF10	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GBenign
Select item 3034203	NM_152598.4(MARCHF10):c.309A>G (p.Ser103=)	MARCHF10	Single nucleotide variant (synonymous variant)	MARCHF10-related disorder	GBenign
Select item 3034198	NM_152598.4(MARCHF10):c.725A>C (p.Lys242Thr)	LOC105371855, MARCHF10 (K241T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GBenign
Select item 3034128	NM_152598.4(MARCHF10):c.801A>G (p.Ala267=)	LOC105371855, MARCHF10	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GBenign
Select item 3034070	NM_152598.4(MARCHF10):c.2372-4C>T	MARCHF10	Single nucleotide variant (intron variant)	MARCHF10-related disorder	GLikely benign
Select item 3034061	NM_152598.4(MARCHF10):c.1247A>G (p.Asn416Ser)	LOC105371855, MARCHF10 (N415S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MARCHF10-related disorder	GBenign
Select item 2609671	NM_152598.4(MARCHF10):c.716T>C (p.Phe239Ser)	LOC105371855, MARCHF10 (F238S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2590034	NM_152598.4(MARCHF10):c.1048A>G (p.Ser350Gly)	LOC105371855, MARCHF10 (S350G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2580297	GRCh37/hg19 17q23.2-23.3(chr17:60705832-61417743)x1	MARCHF10, MRC2 +1 more	Copy number loss	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2570558	NM_152598.4(MARCHF10):c.1279G>T (p.Val427Leu)	LOC105371855, MARCHF10 (V427L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2551748	NM_152598.4(MARCHF10):c.1547T>C (p.Ile516Thr)	LOC105371855, MARCHF10 (I554T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2544828	NM_152598.4(MARCHF10):c.781G>A (p.Val261Ile)	LOC105371855, MARCHF10 (V260I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528047	NM_152598.4(MARCHF10):c.1267G>A (p.Asp423Asn)	LOC105371855, MARCHF10 (D422N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2523917	NM_152598.4(MARCHF10):c.2014C>T (p.Pro672Ser)	LOC105371855, MARCHF10 (P671S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520058	NM_152598.4(MARCHF10):c.287T>A (p.Leu96His)	MARCHF10 (L96H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519651	NM_152598.4(MARCHF10):c.262T>G (p.Ser88Ala)	MARCHF10 (S88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518564	NM_152598.4(MARCHF10):c.347A>T (p.Lys116Ile)	MARCHF10 (K116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513672	NM_152598.4(MARCHF10):c.464C>T (p.Pro155Leu)	MARCHF10 (P155L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510220	NM_152598.4(MARCHF10):c.1957G>A (p.Glu653Lys)	LOC105371855, MARCHF10 (E653K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507519	NM_152598.4(MARCHF10):c.979G>C (p.Ala327Pro)	LOC105371855, MARCHF10 (A365P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2495895	NM_152598.4(MARCHF10):c.988A>C (p.Lys330Gln)	LOC105371855, MARCHF10 (K330Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2490245	NM_152598.4(MARCHF10):c.1282G>A (p.Glu428Lys)	LOC105371855, MARCHF10 (E428K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2487810	NM_152598.4(MARCHF10):c.182G>A (p.Arg61Gln)	MARCHF10 (R61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482460	NM_152598.4(MARCHF10):c.1798C>T (p.Pro600Ser)	LOC105371855, MARCHF10 (P599S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467273	NM_152598.4(MARCHF10):c.455C>T (p.Ser152Leu)	MARCHF10 (S151L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466571	NM_152598.4(MARCHF10):c.677C>A (p.Pro226His)	LOC105371855, MARCHF10 (P226H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2463311	NM_152598.4(MARCHF10):c.865G>A (p.Asp289Asn)	LOC105371855, MARCHF10 (D289N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2460304	NM_152598.4(MARCHF10):c.2025G>T (p.Glu675Asp)	LOC105371855, MARCHF10 (E675D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457963	NM_152598.4(MARCHF10):c.1576G>A (p.Glu526Lys)	LOC105371855, MARCHF10 (E525K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1808124	GRCh37/hg19 17q23.2(chr17:60695522-60809245)x1	MARCHF10, MRC2	Copy number loss	not provided	GUncertain significance
Select item 916238	NM_152598.4(MARCHF10):c.406T>C (p.Leu136=)	MARCHF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 916237	NM_152598.4(MARCHF10):c.2367T>C (p.Asn789=)	MARCHF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 153259	GRCh38/hg38 17q23.2(chr17:62039036-62927189)x3	EFCAB3, LOC105371855 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 151771	GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1	BRIP1, EFCAB3 +39 more	Copy number loss	See cases	GLikely pathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 89