Related gene-specific medical variations for Gene (Select 5264) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244983	NC_000010.10:g.(?_13320301)_(13325859_?)del	PHYH	Deletion	not provided	GPathogenic
Select item 3244982	NC_000010.10:g.(?_13325670)_(13330561_?)del	PHYH	Deletion	not provided	GPathogenic
Select item 3244980	NC_000010.10:g.(?_13330340)_(13337626_?)del	PHYH	Deletion	not provided	GPathogenic
Select item 3244979	NC_000010.10:g.(?_13336408)_(13337626_?)del	PHYH	Deletion	not provided	GPathogenic
Select item 3244978	NC_000010.10:g.(?_13320301)_(13340265_?)del	PHYH	Deletion	not provided	GPathogenic
Select item 3244977	NC_000010.10:g.(?_13330340)_(13342042_?)del	PHYH	Deletion	not provided	GPathogenic
Select item 3244976	NC_000010.10:g.(?_13341948)_(13342042_?)del	PHYH	Deletion	not provided	GPathogenic
Select item 3244975	NC_000010.10:g.(?_13320301)_(13342042_?)del	PHYH	Deletion	not provided	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 2964083	NM_006214.4(PHYH):c.57_67del (p.Pro20fs)	LOC130003374, PHYH (P20fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2910919	NM_006214.4(PHYH):c.24C>G (p.Ala8=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902940	NM_006214.4(PHYH):c.48C>T (p.His16=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874704	NM_006214.4(PHYH):c.57C>T (p.Arg19=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860684	NM_006214.4(PHYH):c.54C>G (p.Gly18=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856456	NM_006214.4(PHYH):c.25_32del (p.Arg9fs)	LOC130003374, PHYH (R9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2836349	NM_006214.4(PHYH):c.69G>T (p.Gly23=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783545	NM_006214.4(PHYH):c.75+13C>T	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714772	NM_006214.4(PHYH):c.66C>A (p.Ala22=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2171805	NM_006214.4(PHYH):c.70G>T (p.Ala24Ser)	LOC130003374, PHYH (A24S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162280	NM_006214.4(PHYH):c.32A>C (p.Gln11Pro)	PHYH, LOC130003374 (Q11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140149	NM_006214.4(PHYH):c.2T>C (p.Met1Thr)	LOC130003374, PHYH (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2125512	NM_006214.4(PHYH):c.55C>A (p.Arg19Ser)	LOC130003374, PHYH (R19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975470	NM_006214.4(PHYH):c.75C>A (p.Val25=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1974166	NM_006214.4(PHYH):c.42G>A (p.Leu14=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916732	NM_006214.4(PHYH):c.21C>G (p.Ala7=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898134	NM_006214.4(PHYH):c.37G>T (p.Val13Phe)	LOC130003374, PHYH (V13F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627276	NM_006214.4(PHYH):c.45C>T (p.Gly15=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577705	NM_006214.4(PHYH):c.40C>T (p.Leu14=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1548534	NM_006214.4(PHYH):c.69G>C (p.Gly23=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509953	NM_006214.4(PHYH):c.4G>C (p.Glu2Gln)	LOC130003374, PHYH (E2Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495661	NM_006214.4(PHYH):c.25C>G (p.Arg9Gly)	LOC130003374, PHYH (R9G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482969	NM_006214.4(PHYH):c.75+1G>T	LOC130003374, PHYH	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1474247	NM_006214.4(PHYH):c.1A>T (p.Met1Leu)	LOC130003374, PHYH (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1465110	NM_006214.4(PHYH):c.13C>T (p.Arg5Cys)	LOC130003374, PHYH (R5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1454975	NM_006214.4(PHYH):c.42_60dup (p.Ser21fs)	LOC130003374, PHYH (S21fs)	Duplication (frameshift variant)	Phytanic acid storage disease +1 more	GPathogenic
Select item 1397156	NM_006214.4(PHYH):c.75+19G>A	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295419	NM_006214.4(PHYH):c.75+237T>C	LOC130003374, PHYH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1295416	NM_006214.4(PHYH):c.75+132C>G	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266099	NM_006214.4(PHYH):c.75+68T>C	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252681	NM_006214.4(PHYH):c.75+79G>C	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249208	NM_006214.4(PHYH):c.75+159A>C	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184900	NM_006214.4(PHYH):c.529G>A (p.Asp177Asn)	PHYH (D177N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1115167	NM_006214.4(PHYH):c.69G>A (p.Gly23=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 796296	NM_006214.4(PHYH):c.51C>T (p.Leu17=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 299263	NM_006214.4(PHYH):c.-20G>C	LOC130003374, PHYH	Single nucleotide variant (5 prime UTR variant)	Phytanic acid storage disease	GUncertain significance

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Links from Gene

Items: 58