ClinVar for Gene (Select 116840) - ClinVar

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Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance
Select item 2647443	NM_053051.5(CNTROB):c.2190C>T (p.Asp730=)	CNTROB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647442	NM_053051.5(CNTROB):c.672C>T (p.Ala224=)	CNTROB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617913	NM_053051.5(CNTROB):c.1892G>T (p.Cys631Phe)	CNTROB (C445F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609697	NM_053051.5(CNTROB):c.2646C>T (p.Pro882=)	CNTROB	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2602468	NM_053051.5(CNTROB):c.1192G>A (p.Ala398Thr)	CNTROB (A212T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596041	NM_053051.5(CNTROB):c.1751C>T (p.Pro584Leu)	CNTROB (P398L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594051	NM_053051.5(CNTROB):c.2200C>G (p.Pro734Ala)	CNTROB (P548A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590177	NM_053051.5(CNTROB):c.505T>C (p.Tyr169His)	CNTROB (Y169H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2558255	NM_053051.5(CNTROB):c.1736C>T (p.Ala579Val)	CNTROB (A490V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2557474	NM_053051.5(CNTROB):c.2022C>G (p.Phe674Leu)	CNTROB (F488L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546989	NM_053051.5(CNTROB):c.1718C>T (p.Pro573Leu)	CNTROB (P387L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2530542	NM_053051.5(CNTROB):c.1124C>T (p.Ala375Val)	CNTROB (A375V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522818	NM_053051.5(CNTROB):c.2264C>T (p.Pro755Leu)	CNTROB (P755L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512477	NM_053051.5(CNTROB):c.722G>A (p.Arg241His)	CNTROB (R152H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494375	NM_053051.5(CNTROB):c.2699G>A (p.Gly900Glu)	CNTROB (G900E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485555	NM_053051.5(CNTROB):c.37G>C (p.Gly13Arg)	CNTROB (G13R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2471313	NM_053051.5(CNTROB):c.1864G>A (p.Glu622Lys)	CNTROB (E436K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467099	NM_053051.5(CNTROB):c.881G>A (p.Arg294His)	CNTROB (R205H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466840	NM_053051.5(CNTROB):c.92C>T (p.Ser31Leu)	CNTROB (S31L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466502	NM_053051.5(CNTROB):c.2609G>A (p.Arg870His)	CNTROB (R782H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464077	NM_053051.5(CNTROB):c.976C>T (p.Arg326Trp)	CNTROB (R326W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462892	NM_053051.5(CNTROB):c.790C>T (p.His264Tyr)	CNTROB (H175Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458857	NM_053051.5(CNTROB):c.1696C>A (p.Gln566Lys)	CNTROB (Q380K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456132	NM_053051.5(CNTROB):c.2449C>T (p.Arg817Trp)	CNTROB (R728W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	NEURL4, NLGN2 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2412024	NM_053051.5(CNTROB):c.1385G>A (p.Arg462Gln)	CNTROB (R373Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403613	NM_053051.5(CNTROB):c.214G>A (p.Ala72Thr)	CNTROB (A72T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400139	NM_053051.5(CNTROB):c.1237C>T (p.Arg413Trp)	CNTROB (R227W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396904	NM_053051.5(CNTROB):c.2513+54G>A	CNTROB (G856E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389344	NM_053051.5(CNTROB):c.2077G>A (p.Gly693Arg)	CNTROB (G604R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384202	NM_053051.5(CNTROB):c.2651G>A (p.Arg884Gln)	CNTROB (R906Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378936	NM_053051.5(CNTROB):c.2611C>T (p.Arg871Cys)	CNTROB (R783C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378014	NM_053051.5(CNTROB):c.2692C>T (p.Arg898Trp)	CNTROB (R898W +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346418	NM_053051.5(CNTROB):c.689C>T (p.Thr230Ile)	CNTROB (T230I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2343229	NM_053051.5(CNTROB):c.1055G>A (p.Arg352Gln)	CNTROB (R166Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2340970	NM_053051.5(CNTROB):c.878A>G (p.Asn293Ser)	CNTROB (N107S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327425	NM_053051.5(CNTROB):c.1800G>T (p.Trp600Cys)	CNTROB (W414C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317300	NM_053051.5(CNTROB):c.1476C>G (p.His492Gln)	CNTROB (H306Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315699	NM_053051.5(CNTROB):c.38G>A (p.Gly13Glu)	CNTROB (G13E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305791	NM_053051.5(CNTROB):c.1988C>A (p.Ser663Tyr)	CNTROB (S477Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305094	NM_053051.5(CNTROB):c.640C>A (p.Leu214Ile)	CNTROB (L125I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285253	NM_053051.5(CNTROB):c.85C>A (p.Gln29Lys)	CNTROB (Q29K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261589	NM_053051.5(CNTROB):c.76G>C (p.Gly26Arg)	CNTROB (G26R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243380	NM_053051.5(CNTROB):c.194A>G (p.His65Arg)	CNTROB (H65R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230459	NM_053051.5(CNTROB):c.1331G>A (p.Arg444Gln)	CNTROB (R444Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230023	NM_053051.5(CNTROB):c.199G>A (p.Gly67Arg)	CNTROB (G67R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228166	NM_053051.5(CNTROB):c.1474C>T (p.His492Tyr)	CNTROB (H306Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227359	NM_053051.5(CNTROB):c.2511C>G (p.Ser837Arg)	CNTROB (S651R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224286	NM_053051.5(CNTROB):c.2605C>T (p.Pro869Ser)	CNTROB (P781S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205940	NM_053051.5(CNTROB):c.392G>A (p.Arg131Gln)	CNTROB (R131Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	GUncertain significance
Select item 1526568	GRCh37/hg19 17p13.1(chr17:7593552-8225803)	ALOX12B, ALOX15B +29 more	Copy number gain	not specified	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 1376044	NC_000017.10:g.(?_7571752)_(8135555_?)del	TMEM88, TP53 +26 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 1035220	NC_000017.10:g.(?_7846709)_(8000124_?)dup	CNTROB, GUCY2D +3 more	Duplication	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	KCNAB3, KCTD11 +81 more	Duplication	Dyskeratosis congenita +1 more	GUncertain significance
Select item 687831	GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3	ALOX12B, ALOX15B +32 more	Copy number gain	not provided	GUncertain significance
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	ALOX12B, ALOX15B +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC112533665, LOC116276454 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	ACADVL, ACAP1 +229 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 77