ClinVar for OMIM (Select 266500) - ClinVar - NCBI

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

Links from OMIM

Items: 1 to 100 of 118

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362643	NM_006214.4(PHYH):c.626T>G (p.Leu209Arg)	PHYH (L109R +3 more)	Single nucleotide variant (missense variant +1 more)	Phytanic acid storage disease	GUncertain significance
Select item 3359073	NM_006214.4(PHYH):c.336del (p.Pro113fs)	PHYH (P113fs +1 more)	Deletion (frameshift variant)	Phytanic acid storage disease	GPathogenic
Select item 3240120	NM_006214.4(PHYH):c.76-1G>A	PHYH	Single nucleotide variant (splice acceptor variant +1 more)	Phytanic acid storage disease	GLikely pathogenic
Select item 2789898	NM_006214.4(PHYH):c.678+2T>C	PHYH	Single nucleotide variant (splice donor variant +1 more)	Phytanic acid storage disease +1 more	GLikely pathogenic
Select item 2760451	NM_006214.4(PHYH):c.134+1G>A	PHYH	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2677766	NM_006214.4(PHYH):c.399C>G (p.Tyr133Ter)	PHYH (Y133* +1 more)	Single nucleotide variant (nonsense)	Phytanic acid storage disease	GLikely pathogenic
Select item 2677765	NM_006214.4(PHYH):c.343G>T (p.Glu115Ter)	PHYH (E115* +1 more)	Single nucleotide variant (nonsense)	Phytanic acid storage disease	GLikely pathogenic
Select item 2677764	NM_006214.4(PHYH):c.426del (p.Lys141_Tyr142insTer)	PHYH	Deletion (nonsense +1 more)	Phytanic acid storage disease +1 more	GPathogenic/Likely pathogenic
Select item 2677763	NM_006214.4(PHYH):c.527_528del (p.Gln176fs)	PHYH (Q176fs +3 more)	Deletion (frameshift variant +1 more)	Phytanic acid storage disease	GLikely pathogenic
Select item 2677762	NM_006214.4(PHYH):c.415-1G>T	PHYH	Single nucleotide variant (intron variant +1 more)	Phytanic acid storage disease	GLikely pathogenic
Select item 2677761	NM_006214.4(PHYH):c.578G>A (p.Trp193Ter)	PHYH (W193* +3 more)	Single nucleotide variant (nonsense +1 more)	Phytanic acid storage disease	GLikely pathogenic
Select item 2677760	NM_006214.4(PHYH):c.50dup (p.Gly18fs)	LOC130003374, PHYH (G18fs)	Duplication (frameshift variant)	Phytanic acid storage disease	GLikely pathogenic
Select item 2677759	NM_006214.4(PHYH):c.225del (p.Asp75fs)	PHYH (D75fs)	Deletion (5 prime UTR variant +1 more)	Phytanic acid storage disease	GLikely pathogenic
Select item 2677758	NM_006214.4(PHYH):c.896del (p.Asn299fs)	PHYH (N199fs +4 more)	Deletion (frameshift variant)	Phytanic acid storage disease	GLikely pathogenic
Select item 2677757	NM_006214.4(PHYH):c.124C>T (p.Gln42Ter)	PHYH (Q42*)	Single nucleotide variant (5 prime UTR variant +2 more)	Phytanic acid storage disease	GLikely pathogenic
Select item 2677756	NM_006214.4(PHYH):c.388del (p.Leu130fs)	PHYH (L130fs +1 more)	Deletion (frameshift variant)	Phytanic acid storage disease	GLikely pathogenic
Select item 2576187	NM_006214.4(PHYH):c.520dup (p.Leu174fs)	PHYH (L174fs +3 more)	Duplication (frameshift variant +1 more)	Phytanic acid storage disease +1 more	GPathogenic/Likely pathogenic
Select item 2136846	NM_006214.4(PHYH):c.457del (p.Ala153fs)	PHYH (A153fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1973968	NM_006214.4(PHYH):c.675G>A (p.Trp225Ter)	PHYH (W127* +3 more)	Single nucleotide variant (nonsense +1 more)	Phytanic acid storage disease +1 more	GPathogenic/Likely pathogenic
Select item 1726812	NM_006214.4(PHYH):c.686_687del (p.Val229fs)	PHYH (V129fs +4 more)	Deletion (frameshift variant)	Phytanic acid storage disease	GLikely pathogenic
Select item 1725861	NM_006214.4(PHYH):c.488del (p.Pro163fs)	PHYH (P163fs +1 more)	Deletion (frameshift variant +1 more)	Phytanic acid storage disease	GLikely pathogenic
Select item 1725332	NM_006214.4(PHYH):c.640A>T (p.Lys214Ter)	PHYH (K114* +3 more)	Single nucleotide variant (nonsense +1 more)	Phytanic acid storage disease	GLikely pathogenic
Select item 1725221	NM_006214.4(PHYH):c.502A>T (p.Lys168Ter)	PHYH (K168* +3 more)	Single nucleotide variant (nonsense +1 more)	Phytanic acid storage disease	GLikely pathogenic
Select item 1724932	NM_006214.4(PHYH):c.684del (p.Val229fs)	PHYH (V129fs +4 more)	Deletion (frameshift variant)	Phytanic acid storage disease	GLikely pathogenic
Select item 1724882	NM_006214.4(PHYH):c.549_550delinsT (p.Arg184fs)	PHYH (R184fs +3 more)	Indel (frameshift variant +1 more)	Phytanic acid storage disease	GLikely pathogenic
Select item 1698840	NM_006214.4(PHYH):c.811del (p.Thr271fs)	PHYH (T171fs +4 more)	Deletion (frameshift variant)	Phytanic acid storage disease	GLikely pathogenic
Select item 1474610	NM_006214.4(PHYH):c.497-1G>A	PHYH	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1454975	NM_006214.4(PHYH):c.42_60dup (p.Ser21fs)	LOC130003374, PHYH (S21fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1420459	NM_006214.4(PHYH):c.506C>T (p.Thr169Met)	PHYH (T171M +3 more)	Single nucleotide variant (missense variant +1 more)	Phytanic acid storage disease +1 more	GUncertain significance
Select item 1404181	NM_006214.4(PHYH):c.679-1dup	PHYH	Duplication (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1179799	NM_006214.4(PHYH):c.76-48T>C	PHYH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1163858	NM_000288.4(PEX7):c.803+4C>G	PEX7	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 1101707	NM_006214.4(PHYH):c.846C>T (p.Phe282=)	PHYH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1010243	NM_000288.4(PEX7):c.129G>C (p.Ala43=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B +2 more	GUncertain significance
Select item 971436	NM_006214.4(PHYH):c.19G>A (p.Ala7Thr)	LOC130003374, PHYH (A7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 962882	NM_006214.4(PHYH):c.375_376del (p.Glu126fs)	PHYH (E26fs +1 more)	Deletion (frameshift variant)	Phytanic acid storage disease +1 more	GPathogenic
Select item 957765	NM_006214.4(PHYH):c.244C>T (p.Arg82Trp)	PHYH (R82W)	Single nucleotide variant (5 prime UTR variant +1 more)	Phytanic acid storage disease +1 more	GUncertain significance
Select item 904199	NM_000288.4(PEX7):c.554T>C (p.Val185Ala)	PEX7 (V185A)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GUncertain significance
Select item 879441	NM_006214.4(PHYH):c.679G>T (p.Gly227Trp)	PHYH (G139W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 879440	NM_006214.4(PHYH):c.739C>T (p.His247Tyr)	PHYH (H147Y +4 more)	Single nucleotide variant (missense variant)	Phytanic acid storage disease +1 more	GUncertain significance
Select item 877980	NM_006214.4(PHYH):c.828+4A>T	PHYH	Single nucleotide variant (intron variant)	Phytanic acid storage disease	GUncertain significance
Select item 877979	NM_006214.4(PHYH):c.948T>C (p.Asn316=)	PHYH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877978	NM_006214.4(PHYH):c.*25C>T	PHYH	Single nucleotide variant (3 prime UTR variant)	Phytanic acid storage disease	GUncertain significance
Select item 877868	NM_006214.4(PHYH):c.83A>G (p.His28Arg)	PHYH (H28R)	Single nucleotide variant (5 prime UTR variant +2 more)	Phytanic acid storage disease +1 more	GUncertain significance
Select item 877815	NM_006214.4(PHYH):c.*188A>C	PHYH	Single nucleotide variant (3 prime UTR variant)	Phytanic acid storage disease	GUncertain significance
Select item 877814	NM_006214.4(PHYH):c.*253G>T	PHYH	Single nucleotide variant (3 prime UTR variant)	Phytanic acid storage disease	GUncertain significance
Select item 877813	NM_006214.4(PHYH):c.*417A>G	PHYH	Single nucleotide variant (3 prime UTR variant)	Phytanic acid storage disease	GUncertain significance
Select item 877812	NM_006214.4(PHYH):c.*434A>G	PHYH	Single nucleotide variant (3 prime UTR variant)	Phytanic acid storage disease	GUncertain significance
Select item 877811	NM_006214.4(PHYH):c.*499C>T	PHYH	Single nucleotide variant (3 prime UTR variant)	Phytanic acid storage disease	GUncertain significance
Select item 872163	NM_006214.4(PHYH):c.830C>A (p.Ala277Glu)	PHYH (A277E +4 more)	Single nucleotide variant (missense variant)	Phytanic acid storage disease +1 more	GPathogenic/Likely pathogenic
Select item 866618	NM_006214.4(PHYH):c.530A>G (p.Asp177Gly)	PHYH (D177G +3 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 853270	NM_006214.4(PHYH):c.497-2A>G	PHYH	Single nucleotide variant (intron variant +1 more)	Phytanic acid storage disease +2 more	GPathogenic/Likely pathogenic
Select item 812375	NM_006214.4(PHYH):c.135-1G>C	PHYH	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 631628	NM_006214.4(PHYH):c.703G>A (p.Gly235Arg)	PHYH (G235R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 617834	NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)	PHYH (R82G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 558590	NM_006214.4(PHYH):c.414+2T>C	PHYH	Single nucleotide variant (splice donor variant)	Phytanic acid storage disease	GLikely pathogenic
Select item 556208	NM_006214.4(PHYH):c.621_623del (p.Val208del)	PHYH (V208del +3 more)	Deletion (inframe_deletion +1 more)	Phytanic acid storage disease +1 more	GUncertain significance
Select item 555188	NM_006214.4(PHYH):c.1_24dup (p.Met1_Ala8dup)	LOC130003374, PHYH	Duplication (inframe_insertion +1 more)	Phytanic acid storage disease	GUncertain significance
Select item 553790	NM_000288.4(PEX7):c.904-1G>A	PEX7	Single nucleotide variant (splice acceptor variant)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GUncertain significance
Select item 500853	NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)	PEX7 (R232Q)	Single nucleotide variant (missense variant)	Phytanic acid storage disease +3 more	GConflicting classifications of pathogenicity
Select item 498141	NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)	PEX7 (P29L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 429240	NM_006214.4(PHYH):c.354C>G (p.Ile118Met)	PHYH (I118M +1 more)	Single nucleotide variant (missense variant)	Phytanic acid storage disease +1 more	GUncertain significance
Select item 370682	NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)	PEX7 (Q93*)	Single nucleotide variant (nonsense)	Connective tissue disorder +3 more	GPathogenic/Likely pathogenic
Select item 355541	NM_000288.4(PEX7):c.305_310del	PEX7	Deletion (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata +1 more	GUncertain significance
Select item 355539	NM_000288.4(PEX7):c.257_258insAGT	PEX7	Insertion (3 prime UTR variant)	not provided +2 more	GBenign
Select item 355521	NM_000288.3(PEX7):c.-77T>C	PEX7	Single nucleotide variant	not provided +2 more	GUncertain significance
Select item 355520	NM_000288.3(PEX7):c.-88T>C	PEX7	Single nucleotide variant	Phytanic acid storage disease +1 more	GUncertain significance
Select item 355519	NM_000288.3(PEX7):c.-91G>A	PEX7	Single nucleotide variant	Phytanic acid storage disease +1 more	GUncertain significance
Select item 299264	NM_006214.3(PHYH):c.-78G>T	PHYH	Single nucleotide variant	Phytanic acid storage disease	GUncertain significance
Select item 299263	NM_006214.4(PHYH):c.-20G>C	LOC130003374, PHYH	Single nucleotide variant (5 prime UTR variant)	Phytanic acid storage disease	GUncertain significance
Select item 299262	NM_006214.4(PHYH):c.76-9A>T	PHYH	Single nucleotide variant (intron variant)	Phytanic acid storage disease +1 more	GConflicting classifications of pathogenicity
Select item 299261	NM_006214.4(PHYH):c.93A>C (p.Ser31=)	PHYH	Single nucleotide variant (5 prime UTR variant +2 more)	Phytanic acid storage disease	GUncertain significance
Select item 299260	NM_006214.4(PHYH):c.126A>G (p.Gln42=)	PHYH	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 299259	NM_006214.4(PHYH):c.176A>C (p.Lys59Thr)	PHYH (K59T)	Single nucleotide variant (5 prime UTR variant +1 more)	Phytanic acid storage disease	GUncertain significance
Select item 299258	NM_006214.4(PHYH):c.245G>A (p.Arg82Gln)	PHYH (R82Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Phytanic acid storage disease +1 more	GUncertain significance
Select item 299257	NM_006214.4(PHYH):c.321G>A (p.Ser107=)	PHYH	Single nucleotide variant (synonymous variant)	Phytanic acid storage disease +1 more	GBenign/Likely benign
Select item 299256	NM_006214.4(PHYH):c.321G>T (p.Ser107=)	PHYH	Single nucleotide variant (synonymous variant)	Phytanic acid storage disease +1 more	GConflicting classifications of pathogenicity
Select item 299255	NM_006214.4(PHYH):c.356C>T (p.Thr119Met)	PHYH (T119M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 299254	NM_006214.4(PHYH):c.415-11del	PHYH	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 299253	NM_006214.4(PHYH):c.574G>A (p.Ala192Thr)	PHYH (A192T +3 more)	Single nucleotide variant (missense variant +1 more)	Phytanic acid storage disease +2 more	GUncertain significance
Select item 299252	NM_006214.4(PHYH):c.581C>T (p.Thr194Met)	PHYH (T194M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 299251	NM_006214.4(PHYH):c.601C>G (p.Arg201Gly)	PHYH (R201G +3 more)	Single nucleotide variant (missense variant +1 more)	Phytanic acid storage disease +1 more	GConflicting classifications of pathogenicity
Select item 299250	NM_006214.4(PHYH):c.606C>A (p.Asn202Lys)	PHYH (N202K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 299249	NM_006214.4(PHYH):c.643G>A (p.Gly215Ser)	PHYH (G215S +3 more)	Single nucleotide variant (missense variant +1 more)	Phytanic acid storage disease +1 more	GBenign
Select item 299248	NM_006214.4(PHYH):c.678+15C>T	PHYH	Single nucleotide variant (intron variant)	Phytanic acid storage disease +1 more	GBenign/Likely benign
Select item 299247	NM_006214.4(PHYH):c.679-11T>A	PHYH	Single nucleotide variant (intron variant)	Phytanic acid storage disease	GUncertain significance
Select item 299246	NM_006214.4(PHYH):c.792C>T (p.His264=)	PHYH	Single nucleotide variant (synonymous variant)	Phytanic acid storage disease +1 more	GConflicting classifications of pathogenicity
Select item 299245	NM_006214.4(PHYH):c.829-3C>A	PHYH	Single nucleotide variant (intron variant)	Phytanic acid storage disease +1 more	GUncertain significance
Select item 299244	NM_006214.4(PHYH):c.980G>A (p.Arg327Gln)	PHYH (R327Q +4 more)	Single nucleotide variant (missense variant)	Phytanic acid storage disease +1 more	GLikely benign
Select item 299243	NM_006214.4(PHYH):c.1009A>G (p.Asn337Asp)	PHYH (N337D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 299242	NM_006214.4(PHYH):c.*22T>G	PHYH	Single nucleotide variant (3 prime UTR variant)	Phytanic acid storage disease +1 more	GLikely benign
Select item 299241	NM_006214.4(PHYH):c.*47G>A	PHYH	Single nucleotide variant (3 prime UTR variant)	Phytanic acid storage disease	GLikely benign
Select item 299240	NM_006214.4(PHYH):c.*65G>A	PHYH	Single nucleotide variant (3 prime UTR variant)	Phytanic acid storage disease +1 more	GBenign
Select item 299239	NM_006214.4(PHYH):c.*189del	PHYH	Deletion (3 prime UTR variant)	Phytanic acid storage disease +1 more	GBenign
Select item 255746	NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)	PEX7 (Q126P)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1 +5 more	GBenign/Likely benign
Select item 208603	NM_006214.4(PHYH):c.766_767del (p.Val256fs)	PHYH (V158fs +4 more)	Deletion (frameshift variant)	Phytanic acid storage disease	GLikely pathogenic
Select item 198539	NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)	PHYH (R245Q +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 198192	NM_006214.4(PHYH):c.678+5G>T	PHYH	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 188975	NM_000288.4(PEX7):c.188+1G>C	PEX7	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 9B +3 more	GPathogenic/Likely pathogenic
Select item 167468	NM_006214.4(PHYH):c.717C>T (p.Tyr239=)	PHYH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

<< First< Prev

Page of 2