ClinVar for Gene (Select 2241) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3094388	NM_005246.4(FER):c.950T>C (p.Met317Thr)	FER (M317T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094387	NM_005246.4(FER):c.52C>A (p.Gln18Lys)	FER (Q18K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3094386	NM_005246.4(FER):c.526A>G (p.Met176Val)	FER (M176V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3094385	NM_005246.4(FER):c.346G>C (p.Gly116Arg)	FER (G116R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3094384	NM_005246.4(FER):c.2383A>C (p.Lys795Gln)	FER (K795Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094383	NM_005246.4(FER):c.1489T>C (p.Tyr497His)	FER (Y128H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094382	NM_005246.4(FER):c.1375G>A (p.Asp459Asn)	FER (D284N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062852	GRCh37/hg19 5q21.3-22.1(chr5:106275906-109636670)x1	EFNA5, FBXL17 +3 more	Copy number loss	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 3024398	NM_005246.4(FER):c.1887A>C (p.Gln629His)	FER (Q260H +2 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 3024397	NM_005246.4(FER):c.1883C>T (p.Thr628Ile)	FER (T259I +2 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 2684424	GRCh37/hg19 5q21.3(chr5:108446302-108784737)x3	FER, PJA2	Copy number gain	not provided	GUncertain significance
Select item 2671613	Single allele	CAMK4, EFNA5 +11 more	Deletion	not provided	GUncertain significance
Select item 2610141	NM_005246.4(FER):c.305T>C (p.Met102Thr)	FER (M102T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605894	NM_005246.4(FER):c.1639C>G (p.Leu547Val)	FER (L178V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548182	NM_005246.4(FER):c.55G>C (p.Asp19His)	FER (D19H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2547743	NM_005246.4(FER):c.1251G>T (p.Arg417Ser)	FER (R417S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547514	NM_005246.4(FER):c.814G>A (p.Ala272Thr)	FER (A272T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526062	NM_005246.4(FER):c.1691T>C (p.Ile564Thr)	FER (I195T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2495658	NM_005246.4(FER):c.1598C>G (p.Thr533Arg)	FER (T533R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495317	NM_005246.4(FER):c.1582A>C (p.Ile528Leu)	FER (I159L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490193	NM_005246.4(FER):c.1445T>G (p.Val482Gly)	FER (V307G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464830	NM_005246.4(FER):c.922A>G (p.Met308Val)	FER (M308V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464496	NM_005246.4(FER):c.1529T>G (p.Val510Gly)	FER (V335G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394441	NM_005246.4(FER):c.782A>G (p.Asn261Ser)	FER (N261S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356868	NM_005246.4(FER):c.1028C>T (p.Thr343Ile)	FER (T168I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347395	NM_005246.4(FER):c.2120G>A (p.Arg707His)	FER (R338H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326456	NM_005246.4(FER):c.700A>C (p.Ser234Arg)	FER (S59R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301544	NM_005246.4(FER):c.1222T>A (p.Ser408Thr)	FER (S408T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298617	NM_005246.4(FER):c.323A>G (p.Gln108Arg)	FER (Q108R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277079	NM_005246.4(FER):c.673A>G (p.Ile225Val)	FER (I225V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258746	NM_005246.4(FER):c.1684G>A (p.Asp562Asn)	FER (D193N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245794	NM_005246.4(FER):c.257A>G (p.Lys86Arg)	FER (K86R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1809422	GRCh37/hg19 5q21.3-22.1(chr5:108523293-110365350)x1	FER, MAN2A1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527185	GRCh37/hg19 5q21.3(chr5:108419313-108586661)	FER	Copy number loss	not specified	GUncertain significance
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 980174	GRCh37/hg19 5q21.3(chr5:108364839-108450637)x1	FER	Copy number loss	not provided	GUncertain significance
Select item 980172	GRCh37/hg19 5q21.3(chr5:107937519-108419184)x3	FER	Copy number gain	not provided	GUncertain significance
Select item 828185	NM_005246.4(FER):c.2344C>G (p.Pro782Ala)	FER (P607A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814721	GRCh37/hg19 5q21.3(chr5:108399858-108700822)x3	FER, PJA2	Copy number gain	not provided	GUncertain significance
Select item 792007	NM_005246.4(FER):c.1557T>C (p.Thr519=)	FER	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 791263	NM_005246.4(FER):c.189T>C (p.Tyr63=)	FER	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 780559	NM_005246.4(FER):c.1049T>C (p.Ile350Thr)	FER (I175T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 776052	NM_005246.4(FER):c.2235C>T (p.Ser745=)	FER	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 755254	NM_005246.4(FER):c.1641G>T (p.Leu547=)	FER	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 719488	NM_005246.4(FER):c.482-3dup	FER	Duplication (intron 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 688006	GRCh37/hg19 5q21.3(chr5:108249329-108462351)x1	FER	Copy number loss	not provided	GUncertain significance
Select item 685786	GRCh37/hg19 5q21.3(chr5:105738092-108214791)x3	EFNA5, FBXL17 +1 more	Copy number gain	not provided	GUncertain significance
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 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFAP1L1, AFF4 +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 441691	GRCh37/hg19 5q21.3(chr5:105708752-108378522)x1	FER, FBXL17 +1 more	Copy number loss	See cases	GUncertain significance
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 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	LOC129994229, LOC129994230 +688 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 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	LOC129994289, LOC129994290 +342 more	Copy number loss	See cases	GPathogenic
Select item 153994	GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1	EPB41L4A-DT, APC +134 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	LOC129994369, LOC129994370 +495 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +435 more	Copy number loss	See cases	GPathogenic
Select item 149068	GRCh38/hg38 5q21.3-22.1(chr5:106547519-110687501)x3	EFNA5, FBXL17 +66 more	Copy number gain	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 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
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 74