17148[HGNC] - 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	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 3321064	NM_001243787.2(SMUG1):c.788G>T (p.Gly263Val)	SMUG1 (G152V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224215	NM_001243787.2(SMUG1):c.730A>G (p.Asn244Asp)	SMUG1 (N142D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166763	NM_001243787.2(SMUG1):c.705A>C (p.Glu235Asp)	SMUG1 (E133D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610907	NM_001243787.2(SMUG1):c.647T>C (p.Leu216Pro)	SMUG1 (L114P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328386	NM_001243787.2(SMUG1):c.638T>C (p.Val213Ala)	SMUG1 (V213A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334970	NM_001243787.2(SMUG1):c.623G>A (p.Arg208Gln)	SMUG1 (R106Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166762	NM_001243787.2(SMUG1):c.526A>G (p.Asn176Asp)	SMUG1 (N176D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321063	NM_001243787.2(SMUG1):c.457G>A (p.Glu153Lys)	SMUG1 (E51K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228550	NM_001243787.2(SMUG1):c.415G>T (p.Ala139Ser)	SMUG1 (A139S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214650	NM_001243787.2(SMUG1):c.360G>C (p.Glu120Asp)	SMUG1 (E120D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161674	NM_001243787.2(SMUG1):c.285+5A>T	SMUG1	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 2407453	NM_001243787.2(SMUG1):c.256C>G (p.Pro86Ala)	SMUG1 (P86A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166760	NM_001243787.2(SMUG1):c.215A>G (p.Tyr72Cys)	SMUG1 (Y72C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166759	NM_001243787.2(SMUG1):c.212G>A (p.Arg71His)	SMUG1 (R71H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373072	NM_001243787.2(SMUG1):c.196C>T (p.Arg66Cys)	SMUG1 (R66C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166758	NM_001243787.2(SMUG1):c.143C>T (p.Ser48Leu)	SMUG1 (S48L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2276285	NM_001243787.2(SMUG1):c.105G>T (p.Glu35Asp)	SMUG1 (E35D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 776713	NM_001243787.2(SMUG1):c.44G>T (p.Gly15Val)	SMUG1 (G15V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2622276	NM_001243787.2(SMUG1):c.25T>C (p.Ser9Pro)	SMUG1 (S9P)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2533240	NM_001243787.2(SMUG1):c.23G>A (p.Gly8Glu)	SMUG1 (G8E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684674	GRCh37/hg19 12q13.13(chr12:54429002-54898430)x3	CBX5, COPZ1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 635875	Single allele	AMHR2, ATF7 +26 more	Deletion	Neurodevelopmental disorder	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

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Items: 28