ClinVar for Gene (Select 1368) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338211	NM_198320.5(CPM):c.752G>C (p.Gly251Ala)	CPM (G130A +5 more)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 3269192	NM_198320.5(CPM):c.103G>A (p.Val35Ile)	CPM (V35I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3269191	NM_198320.5(CPM):c.305C>T (p.Thr102Ile)	CPM (T102I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076726	NM_198320.5(CPM):c.900C>G (p.Asn300Lys)	CPM (N179K +5 more)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 3076725	NM_198320.5(CPM):c.896A>G (p.Asn299Ser)	CPM (N299S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076724	NM_198320.5(CPM):c.769T>A (p.Ser257Thr)	CPM (S176T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076723	NM_198320.5(CPM):c.550G>A (p.Val184Ile)	CPM (V143I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076722	NM_198320.5(CPM):c.301G>A (p.Val101Ile)	CPM (V60I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076721	NM_198320.5(CPM):c.1231C>T (p.Pro411Ser)	CPM (P330S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2569725	NM_198320.5(CPM):c.865C>T (p.Arg289Cys)	CPM (R168C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2473495	NM_198320.5(CPM):c.1276A>G (p.Thr426Ala)	CPM (T438A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2385149	NM_198320.5(CPM):c.106G>A (p.Ala36Thr)	CPM (A36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364995	NM_198320.5(CPM):c.296A>G (p.Tyr99Cys)	CPM (Y18C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343108	NM_198320.5(CPM):c.319G>T (p.Asp107Tyr)	CPM (D66Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332700	NM_198320.5(CPM):c.865C>G (p.Arg289Gly)	CPM (R168G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327535	NM_198320.5(CPM):c.157A>G (p.Lys53Glu)	CPM (K53E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326688	NM_198320.5(CPM):c.625G>T (p.Ala209Ser)	CPM (A168S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293298	NM_198320.5(CPM):c.1015C>T (p.His339Tyr)	CPM (H218Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291457	NM_198320.5(CPM):c.1234A>G (p.Met412Val)	CPM (M371V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279423	NM_198320.5(CPM):c.649C>A (p.Pro217Thr)	CPM (P136T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242052	NM_198320.5(CPM):c.932T>C (p.Val311Ala)	CPM (V122A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219383	NM_198320.5(CPM):c.1016A>G (p.His339Arg)	CPM (H150R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	MSRB3, MYRFL +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)	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 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	See cases	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 37