LOC105371855[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
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 153259	GRCh38/hg38 17q23.2(chr17:62039036-62927189)x3	EFCAB3, LOC105371855 +27 more	Copy number gain	See cases	GLikely pathogenic
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 3038174	NM_152598.4(MARCHF10):c.2031C>T (p.Cys677=)	LOC105371855, MARCHF10	Single nucleotide variant (synonymous variant)	MARCHF10-related disorder	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 57