29616[HGNC] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
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 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	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 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	ALOX12B, ALOX15B +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC129390832, LOC130060171 +141 more	Deletion	Dyskeratosis congenita +2 more	GPathogenic
Select item 2485555	NM_053051.5(CNTROB):c.37G>C (p.Gly13Arg)	CNTROB (G13R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2315699	NM_053051.5(CNTROB):c.38G>A (p.Gly13Glu)	CNTROB (G13E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261589	NM_053051.5(CNTROB):c.76G>C (p.Gly26Arg)	CNTROB (G26R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285253	NM_053051.5(CNTROB):c.85C>A (p.Gln29Lys)	CNTROB (Q29K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466840	NM_053051.5(CNTROB):c.92C>T (p.Ser31Leu)	CNTROB (S31L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146967	NM_053051.5(CNTROB):c.104C>A (p.Thr35Asn)	CNTROB (T35N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243380	NM_053051.5(CNTROB):c.194A>G (p.His65Arg)	CNTROB (H65R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230023	NM_053051.5(CNTROB):c.199G>A (p.Gly67Arg)	CNTROB (G67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146977	NM_053051.5(CNTROB):c.208G>A (p.Gly70Ser)	CNTROB (G70S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403613	NM_053051.5(CNTROB):c.214G>A (p.Ala72Thr)	CNTROB (A72T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146982	NM_053051.5(CNTROB):c.308G>A (p.Arg103Gln)	CNTROB (R103Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146983	NM_053051.5(CNTROB):c.320A>T (p.Gln107Leu)	CNTROB (R17* +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 3146984	NM_053051.5(CNTROB):c.434T>C (p.Leu145Pro)	CNTROB (L145P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3146985	NM_053051.5(CNTROB):c.539C>A (p.Pro180His)	CNTROB (P180H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305094	NM_053051.5(CNTROB):c.640C>A (p.Leu214Ile)	CNTROB (L125I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647442	NM_053051.5(CNTROB):c.672C>T (p.Ala224=)	CNTROB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2346418	NM_053051.5(CNTROB):c.689C>T (p.Thr230Ile)	CNTROB (T230I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146986	NM_053051.5(CNTROB):c.693G>A (p.Met231Ile)	CNTROB (M142I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512477	NM_053051.5(CNTROB):c.722G>A (p.Arg241His)	CNTROB (R152H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462892	NM_053051.5(CNTROB):c.790C>T (p.His264Tyr)	CNTROB (H175Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146987	NM_053051.5(CNTROB):c.839G>A (p.Arg280His)	CNTROB (R191H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340970	NM_053051.5(CNTROB):c.878A>G (p.Asn293Ser)	CNTROB (N107S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467099	NM_053051.5(CNTROB):c.881G>A (p.Arg294His)	CNTROB (R205H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464077	NM_053051.5(CNTROB):c.976C>T (p.Arg326Trp)	CNTROB (R326W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146965	NM_053051.5(CNTROB):c.1001G>A (p.Arg334Gln)	CNTROB (R334Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146966	NM_053051.5(CNTROB):c.1037G>A (p.Arg346Gln)	CNTROB (R257Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343229	NM_053051.5(CNTROB):c.1055G>A (p.Arg352Gln)	CNTROB (R166Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2530542	NM_053051.5(CNTROB):c.1124C>T (p.Ala375Val)	CNTROB (A375V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146968	NM_053051.5(CNTROB):c.1137G>T (p.Glu379Asp)	CNTROB (E193D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602468	NM_053051.5(CNTROB):c.1192G>A (p.Ala398Thr)	CNTROB (A212T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400139	NM_053051.5(CNTROB):c.1237C>T (p.Arg413Trp)	CNTROB (R227W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146969	NM_053051.5(CNTROB):c.1267C>G (p.Arg423Gly)	CNTROB (R237G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230459	NM_053051.5(CNTROB):c.1331G>A (p.Arg444Gln)	CNTROB (R444Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146970	NM_053051.5(CNTROB):c.1345T>C (p.Ser449Pro)	CNTROB (S449P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412024	NM_053051.5(CNTROB):c.1385G>A (p.Arg462Gln)	CNTROB (R373Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228166	NM_053051.5(CNTROB):c.1474C>T (p.His492Tyr)	CNTROB (H306Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317300	NM_053051.5(CNTROB):c.1476C>G (p.His492Gln)	CNTROB (H306Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146972	NM_053051.5(CNTROB):c.1523C>T (p.Ala508Val)	CNTROB (A322V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146973	NM_053051.5(CNTROB):c.1594G>A (p.Val532Met)	CNTROB (V532M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146974	NM_053051.5(CNTROB):c.1636C>T (p.Arg546Trp)	CNTROB (R360W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458857	NM_053051.5(CNTROB):c.1696C>A (p.Gln566Lys)	CNTROB (Q380K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546989	NM_053051.5(CNTROB):c.1718C>T (p.Pro573Leu)	CNTROB (P387L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2558255	NM_053051.5(CNTROB):c.1736C>T (p.Ala579Val)	CNTROB (A490V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2596041	NM_053051.5(CNTROB):c.1751C>T (p.Pro584Leu)	CNTROB (P398L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146975	NM_053051.5(CNTROB):c.1772A>C (p.Glu591Ala)	CNTROB (E405A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327425	NM_053051.5(CNTROB):c.1800G>T (p.Trp600Cys)	CNTROB (W414C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471313	NM_053051.5(CNTROB):c.1864G>A (p.Glu622Lys)	CNTROB (E436K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617913	NM_053051.5(CNTROB):c.1892G>T (p.Cys631Phe)	CNTROB (C445F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146976	NM_053051.5(CNTROB):c.1909C>G (p.Leu637Val)	CNTROB (L451V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305791	NM_053051.5(CNTROB):c.1988C>A (p.Ser663Tyr)	CNTROB (S477Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557474	NM_053051.5(CNTROB):c.2022C>G (p.Phe674Leu)	CNTROB (F488L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389344	NM_053051.5(CNTROB):c.2077G>A (p.Gly693Arg)	CNTROB (G604R +2 more)	Single nucleotide variant (missense variant)	not specified	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 2594051	NM_053051.5(CNTROB):c.2200C>G (p.Pro734Ala)	CNTROB (P548A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522818	NM_053051.5(CNTROB):c.2264C>T (p.Pro755Leu)	CNTROB (P755L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146978	NM_053051.5(CNTROB):c.2314C>T (p.Arg772Trp)	CNTROB (R683W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146979	NM_053051.5(CNTROB):c.2324A>C (p.Glu775Ala)	CNTROB (E775A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456132	NM_053051.5(CNTROB):c.2449C>T (p.Arg817Trp)	CNTROB (R728W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146980	NM_053051.5(CNTROB):c.2500C>G (p.Leu834Val)	CNTROB (L834V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227359	NM_053051.5(CNTROB):c.2511C>G (p.Ser837Arg)	CNTROB (S651R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396904	NM_053051.5(CNTROB):c.2513+54G>A	CNTROB (G856E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224286	NM_053051.5(CNTROB):c.2605C>T (p.Pro869Ser)	CNTROB (P781S +5 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2378936	NM_053051.5(CNTROB):c.2611C>T (p.Arg871Cys)	CNTROB (R783C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146981	NM_053051.5(CNTROB):c.2612G>A (p.Arg871His)	CNTROB (R685H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609697	NM_053051.5(CNTROB):c.2646C>T (p.Pro882=)	CNTROB	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2384202	NM_053051.5(CNTROB):c.2651G>A (p.Arg884Gln)	CNTROB (R906Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
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 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 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	ALOX15B, ALOX12B +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 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 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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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: 99