PHYH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 144993	GRCh38/hg38 10p13(chr10:12333253-13948472)x1	BEND7, BEND7-DT +69 more	Copy number loss	See cases	GLikely pathogenic
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 877812	NM_006214.4(PHYH):c.*434A>G	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 877814	NM_006214.4(PHYH):c.*253G>T	PHYH	Single nucleotide variant (3 prime UTR variant)	Phytanic acid storage disease	GUncertain significance
Select item 1223081	NM_006214.4(PHYH):c.*189dup	PHYH	Duplication (3 prime UTR variant)	not provided	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 877815	NM_006214.4(PHYH):c.*188A>C	PHYH	Single nucleotide variant (3 prime UTR variant)	Phytanic acid storage disease	GUncertain significance
Select item 299240	NM_006214.4(PHYH):c.*65G>A	PHYH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 877978	NM_006214.4(PHYH):c.*25C>T	PHYH	Single nucleotide variant (3 prime UTR variant)	Phytanic acid storage disease	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 1639769	NM_006214.4(PHYH):c.1014T>C (p.Leu338=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444210	NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis)	PHYH	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2519911	NM_006214.4(PHYH):c.1011T>A (p.Asn337Lys)	PHYH (N237K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1475761	NM_006214.4(PHYH):c.1010A>G (p.Asn337Ser)	PHYH (N337S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2046347	NM_006214.4(PHYH):c.1006A>C (p.Thr336Pro)	PHYH (T248P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 837093	NM_006214.4(PHYH):c.991G>C (p.Val331Leu)	PHYH (V231L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1461355	NM_006214.4(PHYH):c.986G>C (p.Arg329Pro)	PHYH (R229P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943839	NM_006214.4(PHYH):c.986G>A (p.Arg329Gln)	PHYH (R241Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178043	NM_006214.4(PHYH):c.985C>T (p.Arg329Ter)	PHYH (R229* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2124716	NM_006214.4(PHYH):c.983C>G (p.Ala328Gly)	PHYH (A240G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824968	NM_006214.4(PHYH):c.981A>G (p.Arg327=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1055584	NM_006214.4(PHYH):c.980G>T (p.Arg327Leu)	PHYH (R227L +4 more)	Single nucleotide variant (missense variant)	not provided	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 2161212	NM_006214.4(PHYH):c.979C>T (p.Arg327Ter)	PHYH (R229* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1677048	NM_006214.4(PHYH):c.973A>G (p.Met325Val)	PHYH (M225V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1499659	NM_006214.4(PHYH):c.973A>T (p.Met325Leu)	PHYH (M327L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448580	NM_006214.4(PHYH):c.972G>T (p.Trp324Cys)	PHYH (W236C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840582	NM_006214.4(PHYH):c.966T>C (p.Asp322=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723196	NM_006214.4(PHYH):c.964-9T>C	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747148	NM_006214.4(PHYH):c.964-10T>C	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804774	NM_006214.4(PHYH):c.964-12T>C	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1405585	NM_006214.4(PHYH):c.964-13A>G	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983409	NM_006214.4(PHYH):c.964-14G>C	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604991	NM_006214.4(PHYH):c.964-18G>C	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786520	NM_006214.4(PHYH):c.964-20_964-19del	PHYH	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1647442	NM_006214.4(PHYH):c.964-19T>C	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629072	NM_006214.4(PHYH):c.964-20C>G	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222691	NM_006214.4(PHYH):c.964-57T>A	PHYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295417	NM_006214.4(PHYH):c.964-201A>G	PHYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189347	NM_006214.4(PHYH):c.964-303A>G	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837904	NM_006214.4(PHYH):c.963+16A>G	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2773061	NM_006214.4(PHYH):c.963+11A>G	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004719	NM_006214.4(PHYH):c.963+9G>A	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1430397	NM_006214.4(PHYH):c.952G>A (p.Val318Met)	PHYH (V220M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1622947	NM_006214.4(PHYH):c.951C>T (p.Ser317=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371869	NM_006214.4(PHYH):c.950G>A (p.Ser317Asn)	PHYH (S217N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 877979	NM_006214.4(PHYH):c.948T>C (p.Asn316=)	PHYH	Single nucleotide variant (synonymous variant)	Phytanic acid storage disease +1 more	GConflicting classifications of pathogenicity
Select item 1389794	NM_006214.4(PHYH):c.941C>T (p.Ala314Val)	PHYH (A214V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160709	NM_006214.4(PHYH):c.936T>C (p.Phe312=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069641	NM_006214.4(PHYH):c.928A>G (p.Lys310Glu)	PHYH (K210E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1574040	NM_006214.4(PHYH):c.927T>C (p.His309=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150759	NM_006214.4(PHYH):c.925C>T (p.His309Tyr)	PHYH (H311Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926957	NM_006214.4(PHYH):c.913G>A (p.Val305Ile)	PHYH (V305I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798844	NM_006214.4(PHYH):c.906G>A (p.Lys302=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394270	NM_006214.4(PHYH):c.901G>A (p.Glu301Lys)	PHYH (E203K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928867	NM_006214.4(PHYH):c.900C>T (p.Ile300=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004932	NM_006214.4(PHYH):c.898A>C (p.Ile300Leu)	PHYH (I200L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054070	NM_006214.4(PHYH):c.898A>G (p.Ile300Val)	PHYH (I200V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1605385	NM_006214.4(PHYH):c.885C>A (p.Thr295=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860779	NM_006214.4(PHYH):c.882C>T (p.Gly294=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1079608	NM_006214.4(PHYH):c.876G>A (p.Val292=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420356	NM_006214.4(PHYH):c.874G>C (p.Val292Leu)	PHYH (V192L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726787	NM_006214.4(PHYH):c.873C>T (p.Asp291=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 935366	NM_006214.4(PHYH):c.872A>C (p.Asp291Ala)	PHYH (D291A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006208	NM_006214.4(PHYH):c.863A>C (p.His288Pro)	PHYH (H188P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419406	NM_006214.4(PHYH):c.856G>T (p.Asp286Tyr)	PHYH (D186Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969699	NM_006214.4(PHYH):c.856G>A (p.Asp286Asn)	PHYH (D286N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1597785	NM_006214.4(PHYH):c.855C>T (p.Ala285=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1019049	NM_006214.4(PHYH):c.847G>A (p.Ala283Thr)	PHYH (A183T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1694024	NM_006214.4(PHYH):c.846C>A (p.Phe282Leu)	PHYH (F182L +4 more)	Single nucleotide variant (missense variant)	not provided	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 379919	NM_006214.4(PHYH):c.840C>A (p.Cys280Ter)	PHYH (C280* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1592530	NM_006214.4(PHYH):c.831A>C (p.Ala277=)	PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 872163	NM_006214.4(PHYH):c.830C>A (p.Ala277Glu)	PHYH (A277E +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1066751	NM_006214.4(PHYH):c.829-1G>A	PHYH	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 299245	NM_006214.4(PHYH):c.829-3C>A	PHYH	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1108920	NM_006214.4(PHYH):c.829-4A>G	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2750840	NM_006214.4(PHYH):c.829-12C>T	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605876	NM_006214.4(PHYH):c.829-15G>A	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569342	NM_006214.4(PHYH):c.829-15G>C	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1504864	NM_006214.4(PHYH):c.829-19A>G	PHYH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1283489	NM_006214.4(PHYH):c.829-303dup	PHYH	Duplication (intron variant)	not provided	GBenign
Select item 1234885	NM_006214.4(PHYH):c.829-303_829-302dup	PHYH	Duplication (intron variant)	not provided	GBenign
Select item 1232718	NM_006214.4(PHYH):c.829-290del	PHYH	Deletion (intron variant)	not provided	GBenign
Select item 1906354	NM_006214.4(PHYH):c.828+20C>G	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1486211	NM_006214.4(PHYH):c.828+20C>T	PHYH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1659895	NM_006214.4(PHYH):c.828+19G>T	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815062	NM_006214.4(PHYH):c.828+10C>T	PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 877980	NM_006214.4(PHYH):c.828+4A>T	PHYH	Single nucleotide variant (intron variant)	Phytanic acid storage disease	GUncertain significance

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