9620[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 155670	GRCh38/hg38 12q12(chr12:43477600-44820113)x4	ADAMTS20, IRAK4 +18 more	Copy number gain	See cases	GLikely benign
Select item 146347	GRCh38/hg38 12q12(chr12:43514638-44793576)x3	ADAMTS20, IRAK4 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2545280	NM_002822.5(TWF1):c.1007G>T (p.Arg336Leu)	TWF1 (R336L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474097	NM_002822.5(TWF1):c.1004T>G (p.Ile335Ser)	TWF1 (I342S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542569	NM_002822.5(TWF1):c.970G>T (p.Ala324Ser)	TWF1 (A331S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330331	NM_002822.5(TWF1):c.959A>G (p.Lys320Arg)	TWF1 (K327R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543996	NM_002822.5(TWF1):c.945G>T (p.Lys315Asn)	TWF1 (K322N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323854	NM_002822.5(TWF1):c.943A>G (p.Lys315Glu)	TWF1 (K315E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360591	NM_002822.5(TWF1):c.938A>G (p.His313Arg)	TWF1 (H320R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210015	NM_002822.5(TWF1):c.934G>A (p.Val312Ile)	TWF1 (V319I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185081	NM_002822.5(TWF1):c.865A>G (p.Met289Val)	TMEM117, TWF1 (M296V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339645	NM_002822.5(TWF1):c.854G>A (p.Arg285Lys)	TMEM117, TWF1 (R285K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221996	NM_002822.5(TWF1):c.848T>C (p.Val283Ala)	TMEM117, TWF1 (V283A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225570	NM_002822.5(TWF1):c.833G>A (p.Arg278His)	TMEM117, TWF1 (R285H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185080	NM_002822.5(TWF1):c.806G>A (p.Arg269Gln)	TMEM117, TWF1 (R276Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330332	NM_002822.5(TWF1):c.734A>G (p.His245Arg)	TMEM117, TWF1 (H252R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307830	NM_002822.5(TWF1):c.716T>G (p.Phe239Cys)	TMEM117, TWF1 (F246C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284130	NM_002822.5(TWF1):c.653C>A (p.Thr218Lys)	TMEM117, TWF1 (T218K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324290	NM_002822.5(TWF1):c.496G>A (p.Val166Met)	TMEM117, TWF1 (V166M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185078	NM_002822.5(TWF1):c.484-752A>G	TMEM117, TWF1 (S162G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227065	NM_002822.5(TWF1):c.463C>G (p.Arg155Gly)	TMEM117, TWF1 (R155G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185077	NM_002822.5(TWF1):c.460C>A (p.Leu154Ile)	TMEM117, TWF1 (L154I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519018	NM_002822.5(TWF1):c.439C>G (p.Leu147Val)	TMEM117, TWF1 (L147V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520062	NM_002822.5(TWF1):c.419C>T (p.Ser140Leu)	TMEM117, TWF1 (S140L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235210	NM_002822.5(TWF1):c.407A>C (p.Lys136Thr)	TMEM117, TWF1 (K136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316402	NM_002822.5(TWF1):c.222T>G (p.Asp74Glu)	TMEM117, TWF1 (D74E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 1808488	GRCh37/hg19 12q12(chr12:44080990-44354797)x1	IRAK4, PUS7L +2 more	Copy number loss	not provided	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979962	GRCh37/hg19 12q12(chr12:43953566-46197331)x3	DBX2, ANO6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563924	GRCh37/hg19 12q12(chr12:44091295-44354797)x1	PUS7L, TWF1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563921	GRCh37/hg19 12q12(chr12:44090896-44343135)x1	PUS7L, TWF1 +2 more	Copy number loss	not provided	GLikely benign
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 40