ClinVar for Gene (Select 57228) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320660	NM_001031628.2(SMAGP):c.149C>T (p.Ser50Leu)	DAZAP2, SMAGP (S50L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166260	NM_001031628.2(SMAGP):c.259G>T (p.Ala87Ser)	DAZAP2, SMAGP (A87S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601154	NM_001031628.2(SMAGP):c.218A>C (p.Glu73Ala)	DAZAP2, SMAGP (E73A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457955	NM_001031628.2(SMAGP):c.13C>G (p.Leu5Val)	SMAGP (L5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358883	NM_001031628.2(SMAGP):c.249G>C (p.Glu83Asp)	DAZAP2, SMAGP (E83D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244491	NM_001031628.2(SMAGP):c.26C>T (p.Ser9Phe)	SMAGP (S9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234972	NM_001031628.2(SMAGP):c.106C>G (p.Leu36Val)	SMAGP (L36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 563940	GRCh37/hg19 12q13.12-13.13(chr12:51361462-51751521)x3	GALNT6, SLC11A2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVR1B, ACVRL1 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic