ClinVar for Gene (Select 3295) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379598	NM_000414.4(HSD17B4):c.1487C>T (p.Thr496Ile)	HSD17B4 (T349I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3379597	NM_000414.4(HSD17B4):c.184A>G (p.Ile62Val)	HSD17B4 (I38V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3376296	NM_000414.4(HSD17B4):c.659C>T (p.Pro220Leu)	HSD17B4 (P111L +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3373291	NM_000414.4(HSD17B4):c.1892T>C (p.Ile631Thr)	HSD17B4 (I484T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373064	NM_000414.4(HSD17B4):c.386A>G (p.Gln129Arg)	HSD17B4 (Q105R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3370732	NM_000414.4(HSD17B4):c.349G>C (p.Asp117His)	HSD17B4 (D117H +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3368234	NM_000414.4(HSD17B4):c.1310C>G (p.Ser437Cys)	HSD17B4 (S290C +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3366513	NC_000005.9:g.(118810156_118811400)_(118811566_118813111)del	HSD17B4	Deletion	Bifunctional peroxisomal enzyme deficiency	GPathogenic
Select item 3362607	NM_000414.4(HSD17B4):c.230AAG[1] (p.Glu78del)	HSD17B4 (E103del +3 more)	Microsatellite (5 prime UTR variant +1 more)	Perrault syndrome 1	GUncertain significance
Select item 3362536	NM_000414.4(HSD17B4):c.302+3_307del	HSD17B4	Deletion (splice acceptor variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 3362530	NM_000414.4(HSD17B4):c.2130del (p.Phe710fs)	HSD17B4 (F563fs +8 more)	Deletion (frameshift variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 3362356	NM_000414.4(HSD17B4):c.1219G>A (p.Gly407Arg)	HSD17B4 (G260R +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3356238	NM_000414.4(HSD17B4):c.58+152G>T	HSD17B4 (R11M)	Single nucleotide variant (missense variant +3 more)	HSD17B4-related disorder	GUncertain significance
Select item 3355615	NM_000414.4(HSD17B4):c.2051C>G (p.Ala684Gly)	HSD17B4 (A537G +8 more)	Single nucleotide variant (missense variant +1 more)	HSD17B4-related disorder	GUncertain significance
Select item 3355393	NM_000414.4(HSD17B4):c.1312G>A (p.Gly438Ser)	HSD17B4 (G291S +8 more)	Single nucleotide variant (missense variant +2 more)	HSD17B4-related disorder	GUncertain significance
Select item 3354694	NM_000414.4(HSD17B4):c.113-2241A>T	HSD17B4 (K3* +1 more)	Single nucleotide variant (nonsense +2 more)	HSD17B4-related disorder	GUncertain significance
Select item 3354540	NM_000414.4(HSD17B4):c.-27GT[6]	HSD17B4	Microsatellite (5 prime UTR variant +1 more)	HSD17B4-related disorder	GLikely benign
Select item 3351558	NM_000414.4(HSD17B4):c.113-2227A>G	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	HSD17B4-related disorder	GLikely benign
Select item 3350610	NM_000414.4(HSD17B4):c.58+182C>T	HSD17B4 (S21L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3349431	NM_000414.4(HSD17B4):c.2202C>A (p.Ala734=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	HSD17B4-related disorder	GLikely benign
Select item 3348904	NM_000414.4(HSD17B4):c.*1A>G	HSD17B4	Single nucleotide variant (3 prime UTR variant +1 more)	HSD17B4-related disorder	GLikely benign
Select item 3348832	NM_000414.4(HSD17B4):c.2208C>T (p.Leu736=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	HSD17B4-related disorder	GLikely benign
Select item 3344302	NM_000414.4(HSD17B4):c.1261G>C (p.Gly421Arg)	HSD17B4 (G274R +9 more)	Single nucleotide variant (missense variant +1 more)	HSD17B4-related disorder	GUncertain significance
Select item 3344128	NM_000414.4(HSD17B4):c.272G>T (p.Gly91Val)	HSD17B4 (G116V +3 more)	Single nucleotide variant (missense variant +2 more)	HSD17B4-related disorder	GUncertain significance
Select item 3343854	NM_000414.4(HSD17B4):c.1732T>C (p.Trp578Arg)	HSD17B4 (W431R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343392	NM_000414.4(HSD17B4):c.615G>A (p.Met205Ile)	HSD17B4 (M181I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337163	NM_000414.4(HSD17B4):c.1826C>T (p.Ser609Phe)	HSD17B4 (S462F +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3284863	NM_000414.4(HSD17B4):c.1877T>C (p.Phe626Ser)	HSD17B4 (F486S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284862	NM_000414.4(HSD17B4):c.1045C>T (p.Leu349Phe)	HSD17B4 (L202F +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284861	NM_000414.4(HSD17B4):c.1868A>G (p.Gln623Arg)	HSD17B4 (Q483R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3254998	NM_000414.4(HSD17B4):c.760G>A (p.Gly254Arg)	HSD17B4 (G107R +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3251851	NM_000414.4(HSD17B4):c.740-10C>G	HSD17B4	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3246322	NC_000005.9:g.(?_118809583)_(118814736_?)del	HSD17B4	Deletion	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 3246320	NC_000005.9:g.(?_118842493)_(118844959_?)del	HSD17B4	Deletion	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 3246319	NC_000005.9:g.(?_118788261)_(118792073_?)del	HSD17B4	Deletion	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 3246318	NC_000005.9:g.(?_118788271)_(118877689_?)del	HSD17B4	Deletion	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 3241772	NM_000414.4(HSD17B4):c.112+1G>A	HSD17B4	Single nucleotide variant (splice donor variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241771	NM_000414.4(HSD17B4):c.1661_1664delinsTGCAGATA (p.Ser554fs)	HSD17B4 (S407fs +8 more)	Indel (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241770	NM_000414.4(HSD17B4):c.1715dup (p.Leu573fs)	HSD17B4 (L426fs +8 more)	Duplication (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241769	NM_000414.4(HSD17B4):c.1844_1853delinsGGG (p.Thr615fs)	HSD17B4 (T468fs +8 more)	Indel (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241768	NM_000414.4(HSD17B4):c.986dup (p.Gln330fs)	HSD17B4 (Q183fs +8 more)	Duplication (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241767	NM_000414.4(HSD17B4):c.2122-1G>A	HSD17B4	Single nucleotide variant (splice acceptor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241766	NM_000414.4(HSD17B4):c.1079del (p.Asp360fs)	HSD17B4 (D213fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241764	NM_000414.4(HSD17B4):c.43A>G (p.Thr15Ala)	HSD17B4, LOC129994460 (T15A)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241763	NM_000414.4(HSD17B4):c.303-27_311del	HSD17B4	Deletion (splice acceptor variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3107138	NM_000414.4(HSD17B4):c.561T>G (p.Ile187Met)	HSD17B4 (I184M +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107137	NM_000414.4(HSD17B4):c.328A>G (p.Arg110Gly)	HSD17B4 (R135G +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3107136	NM_000414.4(HSD17B4):c.2198A>G (p.Tyr733Cys)	HSD17B4 (Y596C +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107135	NM_000414.4(HSD17B4):c.2014T>C (p.Ser672Pro)	HSD17B4 (S525P +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107134	NM_000414.4(HSD17B4):c.1898G>T (p.Arg633Leu)	HSD17B4 (R493L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107132	NM_000414.4(HSD17B4):c.1890A>C (p.Glu630Asp)	HSD17B4 (E612D +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107131	NM_000414.4(HSD17B4):c.1652A>G (p.Asn551Ser)	HSD17B4 (N442S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107129	NM_000414.4(HSD17B4):c.1457A>T (p.Asn486Ile)	HSD17B4 (N377I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107128	NM_000414.4(HSD17B4):c.1247C>A (p.Pro416Gln)	HSD17B4 (P276Q +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107127	NM_000414.4(HSD17B4):c.109G>T (p.Val37Phe)	HSD17B4 (C40F +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3068222	NM_000414.4(HSD17B4):c.302+2_302+3insTGTTGT	HSD17B4	Insertion (splice donor variant)	Perrault syndrome 1	GUncertain significance
Select item 3065507	NM_000414.4(HSD17B4):c.21C>G (p.Phe7Leu)	HSD17B4 (F7L)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome 1	GUncertain significance
Select item 3065193	NM_000414.4(HSD17B4):c.1604G>T (p.Cys535Phe)	HSD17B4 (C388F +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 3064205	NM_000414.4(HSD17B4):c.1545C>G (p.His515Gln)	HSD17B4 (H368Q +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1	GPathogenic
Select item 3064170	NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)	HSD17B4 (Q142* +8 more)	Single nucleotide variant (nonsense +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 3062851	GRCh37/hg19 5q23.1(chr5:118652708-119109588)x3	FAM170A, HSD17B4 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 3061952	NM_000414.4(HSD17B4):c.430G>A (p.Gly144Arg)	HSD17B4 (G120R +5 more)	Single nucleotide variant (missense variant +3 more)	Perrault syndrome 1	GUncertain significance
Select item 3060920	NM_000414.4(HSD17B4):c.113-2203T>A	HSD17B4	Single nucleotide variant (intron variant)	HSD17B4-related disorder	GLikely benign
Select item 3058315	NM_000414.4(HSD17B4):c.58+147C>T	HSD17B4	Single nucleotide variant (synonymous variant +3 more)	HSD17B4-related disorder	GLikely benign
Select item 3058151	NM_000414.4(HSD17B4):c.-20T>C	HSD17B4	Single nucleotide variant (5 prime UTR variant +1 more)	HSD17B4-related disorder	GLikely benign
Select item 3046708	NM_000414.4(HSD17B4):c.1210-21A>C	HSD17B4	Single nucleotide variant (intron variant)	HSD17B4-related disorder	GLikely benign
Select item 3036716	NM_000414.4(HSD17B4):c.58+197C>G	HSD17B4	Single nucleotide variant (intron variant)	HSD17B4-related disorder	GLikely benign
Select item 3036262	NM_000414.4(HSD17B4):c.434+4G>A	HSD17B4	Single nucleotide variant (intron variant)	HSD17B4-related disorder	GLikely benign
Select item 3036040	NM_000414.4(HSD17B4):c.113-2260A>G	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	HSD17B4-related disorder	GLikely benign
Select item 3031608	NM_000414.4(HSD17B4):c.1104T>C (p.Ser368=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	HSD17B4-related disorder	GLikely benign
Select item 3029754	NM_000414.4(HSD17B4):c.58+180C>A	HSD17B4	Single nucleotide variant (synonymous variant +3 more)	HSD17B4-related disorder	GLikely benign
Select item 3029740	NM_000414.4(HSD17B4):c.938C>G (p.Thr313Ser)	HSD17B4 (T166S +8 more)	Single nucleotide variant (missense variant +1 more)	HSD17B4-related disorder	GUncertain significance
Select item 3029344	NM_000414.4(HSD17B4):c.113-2265A>C	HSD17B4 (N44H)	Single nucleotide variant (missense variant +2 more)	HSD17B4-related disorder	GUncertain significance
Select item 2954186	NM_000414.4(HSD17B4):c.303-12T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953951	NM_000414.4(HSD17B4):c.1209+19C>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953839	NM_000414.4(HSD17B4):c.1935A>G (p.Lys645=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 2953698	NM_000414.4(HSD17B4):c.1592T>G (p.Leu531Ter)	HSD17B4 (L391* +8 more)	Single nucleotide variant (nonsense +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 2953647	NM_000414.4(HSD17B4):c.885A>C (p.Ile295=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953570	NM_000414.4(HSD17B4):c.1504-6C>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953433	NM_000414.4(HSD17B4):c.1768-17T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953311	NM_000414.4(HSD17B4):c.1476A>C (p.Val492=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953070	NM_000414.4(HSD17B4):c.1428C>T (p.Asp476=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953051	NM_000414.4(HSD17B4):c.1587C>T (p.Pro529=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953013	NM_000414.4(HSD17B4):c.58+14G>A	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2952925	NM_000414.4(HSD17B4):c.739+13C>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2952811	NM_000414.4(HSD17B4):c.1333+1G>A	HSD17B4	Single nucleotide variant (splice donor variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 2952795	NM_000414.4(HSD17B4):c.1262-15T>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2952790	NM_000414.4(HSD17B4):c.660T>C (p.Pro220=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2952713	NM_000414.4(HSD17B4):c.1854+9T>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2952589	NM_000414.4(HSD17B4):c.1768-6C>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2952455	NM_000414.4(HSD17B4):c.2064C>A (p.Ile688=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2952234	NM_000414.4(HSD17B4):c.373C>A (p.Arg125=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951897	NM_000414.4(HSD17B4):c.715-10T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951871	NM_000414.4(HSD17B4):c.113-15G>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951772	NM_000414.4(HSD17B4):c.221-9T>A	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951640	NM_000414.4(HSD17B4):c.363_364del (p.Arg121fs)	HSD17B4 (R103fs +4 more)	Microsatellite (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 2951575	NM_000414.4(HSD17B4):c.1209+14A>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951523	NM_000414.4(HSD17B4):c.1573+17A>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951480	NM_000414.4(HSD17B4):c.657A>G (p.Ala219=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign

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