ClinVar for Gene (Select 83892) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113599	NM_031954.5(KCTD10):c.859G>A (p.Glu287Lys)	KCTD10 (E288K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113598	NM_031954.5(KCTD10):c.793C>T (p.Arg265Trp)	KCTD10 (R242W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113597	NM_031954.5(KCTD10):c.589A>T (p.Asn197Tyr)	KCTD10 (N197Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3113596	NM_031954.5(KCTD10):c.47C>T (p.Ala16Val)	KCTD10 (A16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113595	NM_031954.5(KCTD10):c.398C>A (p.Thr133Asn)	KCTD10 (T133N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113594	NM_031954.5(KCTD10):c.308G>A (p.Arg103Gln)	KCTD10 (R103Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545011	NM_031954.5(KCTD10):c.302G>T (p.Ser101Ile)	KCTD10 (S101I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482192	NM_031954.5(KCTD10):c.864C>G (p.Asp288Glu)	KCTD10 (D289E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469959	NM_031954.5(KCTD10):c.842G>A (p.Arg281His)	KCTD10 (R282H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 815553	GRCh37/hg19 12q24.11(chr12:109199902-110267493)x3	UBE3B, FOXN4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 442495	GRCh37/hg19 12q24.11(chr12:109190922-109989416)x3	ACACB, ALKBH2 +9 more	Copy number gain	See cases	GLikely benign
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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 147614	GRCh38/hg38 12q24.11(chr12:109398462-109637311)x3	KCTD10, LOC130008716 +4 more	Copy number gain	See cases	GBenign
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 20