ClinVar for Gene (Select 10626) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328645	NM_001348119.1(TRIM16):c.1552C>G (p.Leu518Val)	TRIM16 (L356V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328644	NM_001348119.1(TRIM16):c.194A>C (p.Gln65Pro)	TRIM16 (Q65P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328643	NM_001348119.1(TRIM16):c.1100A>G (p.Gln367Arg)	TRIM16 (Q205R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328642	NM_001348119.1(TRIM16):c.1568C>T (p.Ala523Val)	TRIM16 (A393V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328641	NM_001348119.1(TRIM16):c.932G>T (p.Arg311Leu)	TRIM16 (R311L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182245	NM_001348119.1(TRIM16):c.603A>C (p.Gln201His)	TRIM16 (Q201H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3182244	NM_001348119.1(TRIM16):c.505C>T (p.Arg169Cys)	TRIM16 (R169C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182243	NM_001348119.1(TRIM16):c.336C>G (p.Ile112Met)	TRIM16 (I112M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3182241	NM_001348119.1(TRIM16):c.1544C>T (p.Thr515Ile)	TRIM16 (T299I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182240	NM_001348119.1(TRIM16):c.1514T>G (p.Ile505Ser)	TRIM16 (I375S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182239	NM_001348119.1(TRIM16):c.1372A>G (p.Ser458Gly)	TRIM16 (S296G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182238	NM_001348119.1(TRIM16):c.1225C>T (p.Pro409Ser)	TRIM16 (P279S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182237	NM_001348119.1(TRIM16):c.1094G>C (p.Arg365Thr)	TRIM16 (R203T +3 more)	Single nucleotide variant (missense variant)	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 2647499	NM_001348119.1(TRIM16):c.812G>C (p.Arg271Thr)	TRIM16 (R109T +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2602671	NM_001348119.1(TRIM16):c.1478G>A (p.Arg493Gln)	TRIM16 (R331Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592314	NM_001348119.1(TRIM16):c.1246C>T (p.Arg416Trp)	TRIM16 (R254W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588025	NM_001348119.1(TRIM16):c.133G>A (p.Val45Met)	TRIM16 (V45M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2521616	NM_001348119.1(TRIM16):c.802G>A (p.Glu268Lys)	TRIM16 (E106K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458726	NM_001348119.1(TRIM16):c.1603T>C (p.Trp535Arg)	TRIM16 (W373R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408648	NM_001348119.1(TRIM16):c.1034C>T (p.Thr345Ile)	TRIM16 (T129I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384168	NM_001348119.1(TRIM16):c.620C>T (p.Ser207Leu)	TRIM16 (S45L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379224	NM_001348119.1(TRIM16):c.1196C>A (p.Thr399Lys)	TRIM16 (T237K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376508	NM_001348119.1(TRIM16):c.959A>G (p.His320Arg)	TRIM16 (H104R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364715	NM_001348119.1(TRIM16):c.143C>T (p.Ser48Leu)	TRIM16 (S48L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2337434	NM_001348119.1(TRIM16):c.1061A>G (p.Lys354Arg)	TRIM16 (K138R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334347	NM_001348119.1(TRIM16):c.947A>G (p.Glu316Gly)	TRIM16 (E100G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313573	NM_001348119.1(TRIM16):c.1183G>T (p.Val395Phe)	TRIM16 (V395F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305283	NM_001348119.1(TRIM16):c.721G>A (p.Glu241Lys)	TRIM16 (E111K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293361	NM_001348119.1(TRIM16):c.761A>G (p.His254Arg)	TRIM16 (H254R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293321	NM_001348119.1(TRIM16):c.126A>T (p.Glu42Asp)	TRIM16 (E42D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287764	NM_001348119.1(TRIM16):c.1322A>T (p.Tyr441Phe)	TRIM16 (Y225F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272699	NM_001348119.1(TRIM16):c.133G>C (p.Val45Leu)	TRIM16 (V45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233628	NM_001348119.1(TRIM16):c.581T>C (p.Ile194Thr)	TRIM16 (I32T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231345	NM_001348119.1(TRIM16):c.569A>T (p.Asn190Ile)	TRIM16 (N60I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221232	NM_001348119.1(TRIM16):c.255A>T (p.Arg85Ser)	TRIM16 (R85S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2206121	NM_001348119.1(TRIM16):c.797A>T (p.Lys266Met)	TRIM16 (K104M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1339912	GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1	ADORA2B, ARHGAP44 +18 more	Copy number loss	Hereditary liability to pressure palsies	Gnot provided
Select item 815906	GRCh37/hg19 17p12(chr17:14195642-15545880)x3	CDRT4, PMP22 +6 more	Copy number gain	not provided	GPathogenic
Select item 770442	NM_001348119.1(TRIM16):c.1682G>T (p.Gly561Val)	TRIM16 (G399V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625728	GRCh37/hg19 17p12(chr17:14105874-15611546)	CDRT15, CDRT4 +9 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 625727	GRCh37/hg19 17p12(chr17:14104012-15551814)	CDRT15, CDRT4 +8 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 394157	GRCh37/hg19 17p12(chr17:15339667-15592758)x3	TVP23C, TVP23C-CDRT4 +3 more	Copy number gain	See cases	GLikely benign
Select item 253384	GRCh37/hg19 17p12(chr17:14139857-15707850)x3	HS3ST3B1, TVP23C +9 more	Copy number gain	See cases	GPathogenic
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 154394	GRCh38/hg38 17p12(chr17:15140036-15708439)x3	CDRT3, CDRT4 +15 more	Copy number gain	See cases	GUncertain significance
Select item 154234	GRCh38/hg38 17p12(chr17:14179737-15664355)x3	CDRT15, CDRT3 +27 more	Copy number gain	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 150382	GRCh38/hg38 17p12(chr17:15190283-15952996)x3	ADORA2B, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 148716	GRCh38/hg38 17p12(chr17:14671118-15952996)x1	ADORA2B, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58100	GRCh38/hg38 17p12(chr17:14126296-15659587)x3	CDRT15, CDRT3 +27 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60