DAZAP2[gene] - ClinVar

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Items: 27

	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 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +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 2262168	NM_014764.4(DAZAP2):c.56G>A (p.Gly19Glu)	DAZAP2 (G19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320778	NM_014764.4(DAZAP2):c.65T>C (p.Val22Ala)	DAZAP2 (V22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356915	NM_014764.4(DAZAP2):c.137A>G (p.Tyr46Cys)	DAZAP2 (Y46C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270911	NM_014764.4(DAZAP2):c.139C>G (p.Arg47Gly)	DAZAP2 (R47G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272953	NM_014764.4(DAZAP2):c.146G>C (p.Ser49Thr)	DAZAP2 (S49T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486595	NM_014764.4(DAZAP2):c.152T>A (p.Val51Glu)	DAZAP2 (V51E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080140	NM_014764.4(DAZAP2):c.200G>A (p.Gly67Glu)	DAZAP2 (G67E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270913	NM_014764.4(DAZAP2):c.259A>G (p.Ile87Val)	DAZAP2 (I65V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270910	NM_014764.4(DAZAP2):c.383C>T (p.Pro128Leu)	DAZAP2 (P46L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2470267	NM_014764.4(DAZAP2):c.397C>T (p.Pro133Ser)	DAZAP2 (P51S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080141	NM_014764.4(DAZAP2):c.398C>T (p.Pro133Leu)	DAZAP2 (P101L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3080142	NM_014764.4(DAZAP2):c.437A>G (p.Asn146Ser)	DAZAP2 (N114S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2602561	NM_014764.4(DAZAP2):c.445G>C (p.Val149Leu)	DAZAP2 (V117L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306291	NM_014764.4(DAZAP2):c.*51T>G	DAZAP2 (F161V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3080143	NM_014764.4(DAZAP2):c.*118G>A	DAZAP2 (C183Y)	Single nucleotide variant (3 prime UTR variant +2 more)	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 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 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 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 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	BICD1, HDAC7 +212 more	Inversion	not specified	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

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Items: 27