ASPDH[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +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	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +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	C5AR1, C5AR2 +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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41