ClinVar for Gene (Select 89894) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326659	NM_001193531.2(TMEM116):c.485C>G (p.Ala162Gly)	TMEM116 (A162G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326658	NM_001193531.2(TMEM116):c.329C>G (p.Thr110Ser)	TMEM116 (T110S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326657	NM_001193531.2(TMEM116):c.108T>G (p.Cys36Trp)	TMEM116 (C36W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3326656	NM_001193531.2(TMEM116):c.245A>G (p.Asn82Ser)	TMEM116 (N82S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3326655	NM_001193531.2(TMEM116):c.241G>A (p.Val81Ile)	TMEM116 (V81I)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3178450	NM_001193531.2(TMEM116):c.443G>C (p.Ser148Thr)	TMEM116 (S148T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178449	NM_001193531.2(TMEM116):c.226T>C (p.Ser76Pro)	TMEM116 (S76P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3178448	NM_001193531.2(TMEM116):c.188A>G (p.Tyr63Cys)	TMEM116 (Y63C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590235	NM_001193531.2(TMEM116):c.916A>G (p.Thr306Ala)	TMEM116 (T214A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558929	NM_001193531.2(TMEM116):c.259T>G (p.Leu87Val)	TMEM116 (L87V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2557894	NM_001193531.2(TMEM116):c.896G>A (p.Arg299Gln)	TMEM116 (R207Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496489	NM_001193531.2(TMEM116):c.50T>C (p.Val17Ala)	TMEM116 (V17A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465097	NM_001193531.2(TMEM116):c.130T>C (p.Trp44Arg)	TMEM116 (W44R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2409487	NM_001193531.2(TMEM116):c.727G>A (p.Gly243Ser)	TMEM116 (G151S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338560	NM_001193531.2(TMEM116):c.134T>A (p.Leu45His)	TMEM116 (L45H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2324236	NM_001193531.2(TMEM116):c.643T>C (p.Phe215Leu)	TMEM116 (F123L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251164	NM_001193531.2(TMEM116):c.171T>G (p.Asn57Lys)	TMEM116 (N57K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247639	NM_001193531.2(TMEM116):c.384G>T (p.Leu128Phe)	TMEM116 (L93F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809146	GRCh37/hg19 12q24.13(chr12:112384547-112556436)x1	ERP29, NAA25 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687676	GRCh37/hg19 12q24.13(chr12:112434656-112518803)x1	ERP29, NAA25 +1 more	Copy number loss	not provided	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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
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: 25