25694[HGNC] - ClinVar

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Items: 46

	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 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 2260638	NM_001146213.3(TBC1D15):c.4G>T (p.Ala2Ser)	TBC1D15 (A2S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174474	NM_001146213.3(TBC1D15):c.70T>A (p.Cys24Ser)	TBC1D15 (C24S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3324615	NM_001146213.3(TBC1D15):c.94G>A (p.Gly32Ser)	TBC1D15 (G32S)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2358928	NM_001146213.3(TBC1D15):c.278G>A (p.Ser93Asn)	TBC1D15 (S68N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2212168	NM_001146213.3(TBC1D15):c.298A>G (p.Met100Val)	TBC1D15 (M100V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204395	NM_001146213.3(TBC1D15):c.323G>A (p.Arg108Lys)	TBC1D15 (R83K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3174473	NM_001146213.3(TBC1D15):c.338A>G (p.Asn113Ser)	TBC1D15 (N14S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324617	NM_001146213.3(TBC1D15):c.435G>A (p.Met145Ile)	TBC1D15 (M120I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324620	NM_001146213.3(TBC1D15):c.497A>G (p.His166Arg)	TBC1D15 (H108R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610036	NM_001146213.3(TBC1D15):c.658-312A>C	TBC1D15 (K236T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249472	NM_001146213.3(TBC1D15):c.767C>G (p.Pro256Arg)	TBC1D15 (P198R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324618	NM_001146213.3(TBC1D15):c.866G>T (p.Gly289Val)	TBC1D15 (G190V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315234	NM_001146213.3(TBC1D15):c.943A>T (p.Ile315Phe)	TBC1D15 (I216F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324619	NM_001146213.3(TBC1D15):c.959A>T (p.Asn320Ile)	TBC1D15 (N221I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2286696	NM_001146213.3(TBC1D15):c.1105A>G (p.Met369Val)	TBC1D15 (M270V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174467	NM_001146213.3(TBC1D15):c.1129A>G (p.Ser377Gly)	TBC1D15 (S319G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324616	NM_001146213.3(TBC1D15):c.1154C>T (p.Ser385Leu)	TBC1D15 (S402L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217541	NM_001146213.3(TBC1D15):c.1158G>T (p.Arg386Ser)	TBC1D15 (R361S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362140	NM_001146213.3(TBC1D15):c.1234G>A (p.Asp412Asn)	TBC1D15 (D313N +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2231930	NM_001146213.3(TBC1D15):c.1284G>A (p.Met428Ile)	TBC1D15 (M403I +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487135	NM_001146213.3(TBC1D15):c.1375T>C (p.Cys459Arg)	TBC1D15 (C439R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174468	NM_001146213.3(TBC1D15):c.1462T>G (p.Leu488Val)	TBC1D15 (L468V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174469	NM_001146213.3(TBC1D15):c.1551C>G (p.Ile517Met)	TBC1D15 (I418M +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206032	NM_001146213.3(TBC1D15):c.1557C>A (p.Phe519Leu)	TBC1D15 (F420L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256303	NM_001146213.3(TBC1D15):c.1603A>T (p.Met535Leu)	TBC1D15 (M436L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588384	NM_001146213.3(TBC1D15):c.1612G>A (p.Glu538Lys)	TBC1D15 (E513K +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174470	NM_001146213.3(TBC1D15):c.1724A>G (p.Asn575Ser)	TBC1D15 (N517S +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174471	NM_001146213.3(TBC1D15):c.1753G>A (p.Asp585Asn)	TBC1D15 (D546N +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174472	NM_001146213.3(TBC1D15):c.1874T>C (p.Val625Ala)	TBC1D15 (V526A +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324614	NM_001146213.3(TBC1D15):c.1894G>A (p.Val632Ile)	TBC1D15 (V610I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280207	NM_001146213.3(TBC1D15):c.1943C>T (p.Thr648Ile)	TBC1D15 (T623I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395739	NM_001146213.3(TBC1D15):c.1993T>A (p.Ser665Thr)	TBC1D15 (S566T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324621	NM_001146213.3(TBC1D15):c.2009G>C (p.Arg670Thr)	TBC1D15 (R659T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 688046	GRCh37/hg19 12q15-21.1(chr12:71081550-73526446)x1	LGR5, PTPRR +8 more	Copy number loss	not provided	GUncertain significance
Select item 685861	GRCh37/hg19 12q21.1(chr12:72179499-72283266)x3	RAB21, TBC1D15	Copy number gain	not provided	GUncertain significance
Select item 443535	GRCh37/hg19 12q15-21.1(chr12:70575476-73344659)x1	CNOT2, KCNMB4 +11 more	Copy number loss	See cases	GLikely pathogenic
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

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Items: 46