1368[Gene ID] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +163 more	Copy number loss	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 2473495	NM_198320.5(CPM):c.1276A>G (p.Thr426Ala)	CPM (T438A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291457	NM_198320.5(CPM):c.1234A>G (p.Met412Val)	CPM (M371V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545004	NM_198320.5(CPM):c.1178T>C (p.Leu393Pro)	CPM (L204P +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219383	NM_198320.5(CPM):c.1016A>G (p.His339Arg)	CPM (H150R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293298	NM_198320.5(CPM):c.1015C>T (p.His339Tyr)	CPM (H218Y +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242052	NM_198320.5(CPM):c.932T>C (p.Val311Ala)	CPM (V122A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569725	NM_198320.5(CPM):c.865C>T (p.Arg289Cys)	CPM (R168C +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2332700	NM_198320.5(CPM):c.865C>G (p.Arg289Gly)	CPM (R168G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279423	NM_198320.5(CPM):c.649C>A (p.Pro217Thr)	CPM (P136T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326688	NM_198320.5(CPM):c.625G>T (p.Ala209Ser)	CPM (A168S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544901	NM_198320.5(CPM):c.449A>G (p.Tyr150Cys)	CPM (Y109C +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2471400	NM_198320.5(CPM):c.380C>T (p.Pro127Leu)	CPM (P127L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2343108	NM_198320.5(CPM):c.319G>T (p.Asp107Tyr)	CPM (D66Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364995	NM_198320.5(CPM):c.296A>G (p.Tyr99Cys)	CPM (Y18C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475815	NM_198320.5(CPM):c.212T>C (p.Ile71Thr)	CPM (I71T +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2327535	NM_198320.5(CPM):c.157A>G (p.Lys53Glu)	CPM (K53E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385149	NM_198320.5(CPM):c.106G>A (p.Ala36Thr)	CPM (A36T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	LYZ, MDM1 +34 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 980442	GRCh37/hg19 12q15(chr12:69349872-69436657)x1	CPM	Copy number loss	not provided	GUncertain significance
Select item 980441	GRCh37/hg19 12q15(chr12:68572386-70833868)x1	BEST3, CCT2 +17 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +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	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 28