DHDH[gene] - ClinVar

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

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
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 2589909	NM_014475.4(DHDH):c.31G>A (p.Gly11Ser)	DHDH (G11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082014	NM_014475.4(DHDH):c.113A>C (p.Asp38Ala)	DHDH (D38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406538	NM_014475.4(DHDH):c.166G>A (p.Gly56Ser)	DHDH (G56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271776	NM_014475.4(DHDH):c.187A>G (p.Lys63Glu)	DHDH (K63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370921	NM_014475.4(DHDH):c.233A>G (p.Gln78Arg)	DHDH (Q78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357141	NM_014475.4(DHDH):c.266C>T (p.Ala89Val)	DHDH (A89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082015	NM_014475.4(DHDH):c.271A>C (p.Lys91Gln)	DHDH (K91Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409502	NM_014475.4(DHDH):c.283T>A (p.Cys95Ser)	DHDH (C95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271777	NM_014475.4(DHDH):c.284G>A (p.Cys95Tyr)	DHDH (C95Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271775	NM_014475.4(DHDH):c.319C>A (p.Arg107Ser)	DHDH (R107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516416	NM_014475.4(DHDH):c.320G>A (p.Arg107His)	DHDH (R107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271778	NM_014475.4(DHDH):c.336G>C (p.Glu112Asp)	DHDH (E112D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334240	NM_014475.4(DHDH):c.370A>G (p.Ile124Val)	DHDH (I124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617982	NM_014475.4(DHDH):c.385T>G (p.Phe129Val)	DHDH (F129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301236	NM_014475.4(DHDH):c.400G>A (p.Ala134Thr)	DHDH (A134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366906	NM_014475.4(DHDH):c.407G>A (p.Arg136Lys)	DHDH (R136K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207162	NM_014475.4(DHDH):c.469A>T (p.Asn157Tyr)	DHDH (N157Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473110	NM_014475.4(DHDH):c.482T>A (p.Val161Asp)	DHDH (V161D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371912	NM_014475.4(DHDH):c.499C>T (p.Arg167Trp)	DHDH (R167W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245443	NM_014475.4(DHDH):c.511G>C (p.Gly171Arg)	DHDH (G171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082017	NM_014475.4(DHDH):c.529A>G (p.Ile177Val)	DHDH (I177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225083	NM_014475.4(DHDH):c.549G>C (p.Gln183His)	DHDH (Q183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322307	NM_014475.4(DHDH):c.590T>G (p.Ile197Ser)	DHDH (I197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404364	NM_014475.4(DHDH):c.592T>A (p.Ser198Thr)	DHDH (S198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219306	NM_014475.4(DHDH):c.611A>T (p.His204Leu)	DHDH (H204L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2368008	NM_014475.4(DHDH):c.694G>A (p.Val232Met)	DHDH (V232M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205936	NM_014475.4(DHDH):c.718G>A (p.Val240Met)	DHDH (V240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325371	NM_014475.4(DHDH):c.758G>A (p.Cys253Tyr)	DHDH (C253Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372025	NM_014475.4(DHDH):c.764G>A (p.Cys255Tyr)	DHDH (C255Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082018	NM_014475.4(DHDH):c.806C>A (p.Pro269Gln)	DHDH (P269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528788	NM_014475.4(DHDH):c.811C>T (p.Pro271Ser)	DHDH (P271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328011	NM_014475.4(DHDH):c.815C>T (p.Pro272Leu)	DHDH (P272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258398	NM_014475.4(DHDH):c.889C>G (p.Arg297Gly)	DHDH (R297G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271779	NM_014475.4(DHDH):c.925T>C (p.Ser309Pro)	DHDH (S309P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232494	NM_014475.4(DHDH):c.950T>C (p.Ile317Thr)	DHDH (I317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082013	NM_014475.4(DHDH):c.1000C>T (p.Arg334Cys)	DHDH (R334C)	Single nucleotide variant (missense variant)	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 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 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 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

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: 46