ClinVar for Gene (Select 84324) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316162	NM_033082.4(SARNP):c.431T>C (p.Met144Thr)	SARNP (M144T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157842	NM_033082.4(SARNP):c.492C>G (p.Ile164Met)	SARNP (I164M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157841	NM_033082.4(SARNP):c.400A>G (p.Thr134Ala)	SARNP (T134A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157840	NM_033082.4(SARNP):c.230C>A (p.Pro77His)	SARNP (P77H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157839	NM_033082.4(SARNP):c.184G>A (p.Glu62Lys)	SARNP (E62K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157838	NM_033082.4(SARNP):c.130G>A (p.Glu44Lys)	SARNP (E44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551208	NM_033082.4(SARNP):c.572G>C (p.Gly191Ala)	SARNP (G191A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396710	NM_033082.4(SARNP):c.7A>G (p.Thr3Ala)	SARNP (T3A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2384007	NM_033082.4(SARNP):c.352A>G (p.Ser118Gly)	SARNP (S118G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330806	NM_033082.4(SARNP):c.368G>A (p.Arg123Gln)	SARNP (R123Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240207	NM_033082.4(SARNP):c.485C>T (p.Ser162Phe)	SARNP (S162F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807602	GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3	BLOC1S1, CD63 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1527710	GRCh37/hg19 12q13.2(chr12:55975308-56593032)	BLOC1S1, CD63 +25 more	Copy number gain	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	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 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 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