ClinVar for Gene (Select 56929) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377114	NM_020177.3(FEM1C):c.973A>G (p.Ile325Val)	FEM1C (I325V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3354290	NM_020177.3(FEM1C):c.306G>T (p.Leu102Phe)	FEM1C (L102F)	Single nucleotide variant (missense variant)	FEM1C-related condition	GUncertain significance
Select item 3094376	NM_020177.3(FEM1C):c.722A>G (p.Lys241Arg)	FEM1C (K241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094375	NM_020177.3(FEM1C):c.224A>G (p.Asn75Ser)	FEM1C (N75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094374	NM_020177.3(FEM1C):c.185A>G (p.Glu62Gly)	FEM1C (E62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094373	NM_020177.3(FEM1C):c.1292G>A (p.Cys431Tyr)	FEM1C (C431Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2611313	NM_020177.3(FEM1C):c.1693A>G (p.Ser565Gly)	FEM1C (S565G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557827	NM_020177.3(FEM1C):c.440G>A (p.Arg147Gln)	FEM1C (R147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557184	NM_020177.3(FEM1C):c.928G>A (p.Gly310Ser)	FEM1C (G310S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545960	NM_020177.3(FEM1C):c.189A>T (p.Gln63His)	FEM1C (Q63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537363	NM_020177.3(FEM1C):c.685A>G (p.Ile229Val)	FEM1C (I229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504571	NM_020177.3(FEM1C):c.376G>C (p.Asp126His)	FEM1C (D126H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2465795	NM_020177.3(FEM1C):c.1138G>A (p.Ala380Thr)	FEM1C (A380T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462213	NM_020177.3(FEM1C):c.168G>T (p.Met56Ile)	FEM1C (M56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429413	NM_020177.3(FEM1C):c.376G>A (p.Asp126Asn)	FEM1C (D126N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429060	NM_020177.3(FEM1C):c.1103A>G (p.Gln368Arg)	FEM1C (Q368R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2392371	NM_020177.3(FEM1C):c.166A>G (p.Met56Val)	FEM1C (M56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359911	NM_020177.3(FEM1C):c.1526A>G (p.Gln509Arg)	FEM1C (Q509R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313542	NM_020177.3(FEM1C):c.1072A>G (p.Ile358Val)	FEM1C (I358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274530	NM_020177.3(FEM1C):c.1297G>C (p.Ala433Pro)	FEM1C (A433P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255661	NM_020177.3(FEM1C):c.160C>T (p.Leu54Phe)	FEM1C (L54F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527186	GRCh37/hg19 5q22.1-23.1(chr5:111443783-116255660)	AP3S1, APC +21 more	Copy number loss	not specified	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 779887	NM_020177.3(FEM1C):c.1462C>T (p.Leu488=)	FEM1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 545308	Single allele	AP3S1, ARL14EPL +88 more	Duplication	Autism	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	TRIM36, TSLP +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, DCP2 +119 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 150035	GRCh38/hg38 5q22.3(chr5:115320895-115754204)x1	FEM1C, LOC102467217 +18 more	Copy number loss	See cases	GUncertain significance
Select item 148671	GRCh38/hg38 5q22.3-23.1(chr5:115387674-115916830)x1	AP3S1, ATG12 +24 more	Copy number loss	See cases	GUncertain significance
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 51