17481[HGNC] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 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 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 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 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 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 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 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 153994	GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1	EPB41L4A-DT, APC +134 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 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 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 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 3306784	NM_014819.5(PJA2):c.2063C>T (p.Ala688Val)	PJA2 (A688V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535500	NM_014819.5(PJA2):c.1904C>G (p.Pro635Arg)	PJA2 (P635R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482997	NM_014819.5(PJA2):c.1744C>T (p.Arg582Cys)	PJA2 (R582C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326427	NM_014819.5(PJA2):c.1676G>C (p.Gly559Ala)	PJA2 (G559A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298261	NM_014819.5(PJA2):c.1576C>T (p.Pro526Ser)	PJA2 (P526S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291700	NM_014819.5(PJA2):c.1498A>G (p.Ile500Val)	PJA2 (I500V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213397	NM_014819.5(PJA2):c.1427G>A (p.Ser476Asn)	PJA2 (S476N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254818	NM_014819.5(PJA2):c.1395T>A (p.Asp465Glu)	PJA2 (D465E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393783	NM_014819.5(PJA2):c.1337G>A (p.Gly446Asp)	PJA2 (G446D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306786	NM_014819.5(PJA2):c.1321C>T (p.Pro441Ser)	PJA2 (P441S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152437	GRCh38/hg38 5q21.3(chr5:109373305-109472970)x3	LOC129994333, LOC129994334 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2405904	NM_014819.5(PJA2):c.1244G>A (p.Cys415Tyr)	PJA2 (C415Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306788	NM_014819.5(PJA2):c.1220T>C (p.Val407Ala)	PJA2 (V407A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371520	NM_014819.5(PJA2):c.1112A>G (p.His371Arg)	PJA2 (H371R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306787	NM_014819.5(PJA2):c.1081T>G (p.Leu361Val)	PJA2 (L361V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211289	NM_014819.5(PJA2):c.1036T>C (p.Trp346Arg)	PJA2 (W346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507892	NM_014819.5(PJA2):c.1030C>G (p.Gln344Glu)	PJA2 (Q344E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390227	NM_014819.5(PJA2):c.1013C>T (p.Ala338Val)	PJA2 (A338V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214399	NM_014819.5(PJA2):c.991A>G (p.Thr331Ala)	PJA2 (T331A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305564	NM_014819.5(PJA2):c.982G>T (p.Asp328Tyr)	PJA2 (D328Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213406	NM_014819.5(PJA2):c.917A>G (p.His306Arg)	PJA2 (H306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261949	NM_014819.5(PJA2):c.857C>G (p.Ala286Gly)	PJA2 (A286G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306790	NM_014819.5(PJA2):c.797G>A (p.Ser266Asn)	PJA2 (S266N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362698	NM_014819.5(PJA2):c.779C>T (p.Ser260Phe)	PJA2 (S260F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213404	NM_014819.5(PJA2):c.749A>G (p.His250Arg)	PJA2 (H250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213403	NM_014819.5(PJA2):c.689T>A (p.Phe230Tyr)	PJA2 (F230Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619103	NM_014819.5(PJA2):c.618C>G (p.Asn206Lys)	PJA2 (N206K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406119	NM_014819.5(PJA2):c.562G>A (p.Val188Met)	PJA2 (V188M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213401	NM_014819.5(PJA2):c.524G>T (p.Gly175Val)	PJA2 (G175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240037	NM_014819.5(PJA2):c.388G>A (p.Asp130Asn)	PJA2 (D130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306789	NM_014819.5(PJA2):c.364G>A (p.Val122Ile)	PJA2 (V122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404959	NM_014819.5(PJA2):c.346A>G (p.Ser116Gly)	PJA2 (S116G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213400	NM_014819.5(PJA2):c.344G>A (p.Ser115Asn)	PJA2 (S115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213399	NM_014819.5(PJA2):c.271A>T (p.Ser91Cys)	PJA2 (S91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371663	NM_014819.5(PJA2):c.266T>C (p.Leu89Ser)	PJA2 (L89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305275	NM_014819.5(PJA2):c.246G>C (p.Leu82Phe)	PJA2 (L82F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394126	NM_014819.5(PJA2):c.188A>C (p.Tyr63Ser)	PJA2 (Y63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306791	NM_014819.5(PJA2):c.173G>A (p.Arg58Gln)	PJA2 (R58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359474	NM_014819.5(PJA2):c.145A>G (p.Met49Val)	PJA2 (M49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623099	NM_014819.5(PJA2):c.119A>G (p.His40Arg)	PJA2 (H40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213402	NM_014819.5(PJA2):c.58G>T (p.Val20Phe)	PJA2 (V20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481951	NM_014819.5(PJA2):c.41A>G (p.Gln14Arg)	PJA2 (Q14R)	Single nucleotide variant (missense variant)	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 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 2499479	GRCh37/hg19 5q21.3-22.1(chr5:108634380-110629961)x3	CAMK4, MAN2A1 +5 more	Copy number gain	See cases	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 1807630	GRCh37/hg19 5q21.3(chr5:108692509-108908692)x4	PJA2	Copy number gain	not provided	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 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 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 686849	GRCh37/hg19 5q21.3(chr5:108710588-108817884)x3	PJA2	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	CATSPER3, CCDC112 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442882	GRCh37/hg19 5q21.3-22.1(chr5:108604653-110636716)x4	CAMK4, MAN2A1 +5 more	Copy number gain	See cases	GUncertain significance
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 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 78