ASPDH[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 more	Copy number gain	See cases	GPathogenic
Select item 2525591	NM_001114598.2(ASPDH):c.739G>A (p.Glu247Lys)	ASPDH (E142K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263648	NM_001114598.2(ASPDH):c.721G>A (p.Ala241Thr)	ASPDH (A241T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130424	NM_001114598.2(ASPDH):c.694C>A (p.Pro232Thr)	ASPDH (P232T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405613	NM_001114598.2(ASPDH):c.686T>C (p.Leu229Pro)	ASPDH (L229P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228626	NM_001114598.2(ASPDH):c.646G>C (p.Asp216His)	ASPDH (D111H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472560	NM_001114598.2(ASPDH):c.604C>T (p.Pro202Ser)	ASPDH (P202S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365482	NM_001114598.2(ASPDH):c.577A>C (p.Thr193Pro)	ASPDH (T193P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235569	NM_001114598.2(ASPDH):c.521T>C (p.Val174Ala)	ASPDH (V174A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130423	NM_001114598.2(ASPDH):c.512C>T (p.Pro171Leu)	ASPDH (P66L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509628	NM_001114598.2(ASPDH):c.473G>A (p.Arg158Gln)	ASPDH (R53Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130420	NM_001114598.2(ASPDH):c.421G>A (p.Gly141Arg)	ASPDH (G141R)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3130419	NM_001114598.2(ASPDH):c.416C>A (p.Ala139Glu)	ASPDH (A139E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370141	NM_001114598.2(ASPDH):c.358G>A (p.Ala120Thr)	ASPDH (A120T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130418	NM_001114598.2(ASPDH):c.263T>C (p.Leu88Pro)	ASPDH (L33P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130417	NM_001114598.2(ASPDH):c.254C>A (p.Ala85Glu)	ASPDH (A30E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286473	NM_001114598.2(ASPDH):c.211G>C (p.Val71Leu)	ASPDH (V16L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130416	NM_001114598.2(ASPDH):c.203C>G (p.Pro68Arg)	ASPDH (P13R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130415	NM_001114598.2(ASPDH):c.151G>A (p.Val51Met)	ASPDH (V51M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616843	NM_001114598.2(ASPDH):c.151G>C (p.Val51Leu)	ASPDH (V51L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130414	NM_001114598.2(ASPDH):c.129C>A (p.Asp43Glu)	ASPDH (D43E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286472	NM_001114598.2(ASPDH):c.127G>T (p.Asp43Tyr)	ASPDH (D43Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379741	NM_001114598.2(ASPDH):c.125G>A (p.Arg42His)	ASPDH (R42H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130422	NM_001114598.2(ASPDH):c.47G>A (p.Arg16His)	ASPDH (R16H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130421	NM_001114598.2(ASPDH):c.46C>G (p.Arg16Gly)	ASPDH (R16G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808756	GRCh37/hg19 19q13.33(chr19:50883114-51304591)x3	ACP4, ASPDH +13 more	Copy number gain	not provided	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

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Items: 41