ClinVar for Gene (Select 5034) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373075	NM_000918.4(P4HB):c.337C>A (p.Pro113Thr)	P4HB (P113T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363814	NM_000918.4(P4HB):c.685A>G (p.Ile229Val)	P4HB (I229V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355880	NM_000918.4(P4HB):c.1228C>T (p.Leu410=)	P4HB	Single nucleotide variant (synonymous variant)	P4HB-related disorder	GLikely benign
Select item 3350042	NM_000918.4(P4HB):c.1150G>T (p.Glu384Ter)	P4HB (E384*)	Single nucleotide variant (nonsense)	P4HB-related disorder	GUncertain significance
Select item 3337429	NM_000918.4(P4HB):c.608T>C (p.Val203Ala)	P4HB (V203A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337428	NM_000918.4(P4HB):c.1453G>T (p.Glu485Ter)	P4HB (E485*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3303837	NM_000918.4(P4HB):c.152C>T (p.Pro51Leu)	P4HB (P51L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251657	NM_000918.4(P4HB):c.801C>G (p.Asp267Glu)	P4HB (D267E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3207772	NM_000918.4(P4HB):c.91A>C (p.Lys31Gln)	P4HB (K31Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207771	NM_000918.4(P4HB):c.478T>G (p.Phe160Val)	P4HB (F160V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207770	NM_000918.4(P4HB):c.327C>A (p.Asp109Glu)	P4HB (D109E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207769	NM_000918.4(P4HB):c.1430G>C (p.Gly477Ala)	P4HB (G477A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207768	NM_000918.4(P4HB):c.1282A>G (p.Thr428Ala)	P4HB (T428A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053667	NM_000918.4(P4HB):c.912C>T (p.Phe304=)	P4HB	Single nucleotide variant (synonymous variant)	P4HB-related disorder	GLikely benign
Select item 3045418	NM_000918.4(P4HB):c.558C>T (p.Ile186=)	P4HB	Single nucleotide variant (synonymous variant)	P4HB-related disorder	GLikely benign
Select item 3042748	NM_000918.4(P4HB):c.1416C>T (p.Ser472=)	P4HB	Single nucleotide variant (synonymous variant)	P4HB-related disorder	GLikely benign
Select item 3020328	NM_000918.4(P4HB):c.1447-15T>C	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3019799	NM_000918.4(P4HB):c.490G>A (p.Val164Met)	P4HB (V164M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993655	NM_000918.4(P4HB):c.1239G>A (p.Thr413=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992891	NM_000918.4(P4HB):c.1416C>G (p.Ser472Arg)	P4HB (S472R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992373	NM_000918.4(P4HB):c.1244A>G (p.Lys415Arg)	P4HB (K415R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990530	NM_000918.4(P4HB):c.253A>G (p.Thr85Ala)	P4HB (T85A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986842	NM_000918.4(P4HB):c.1376G>A (p.Gly459Glu)	P4HB (G459E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986231	NM_000918.4(P4HB):c.987C>T (p.Pro329=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981407	NM_000918.4(P4HB):c.487-9_487-7del	P4HB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2980884	NM_000918.4(P4HB):c.606G>A (p.Gly202=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978402	NM_000918.4(P4HB):c.484A>G (p.Lys162Glu)	P4HB (K162E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974807	NM_000918.4(P4HB):c.286G>C (p.Val96Leu)	P4HB (V96L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974806	NM_000918.4(P4HB):c.583A>G (p.Lys195Glu)	P4HB (K195E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973686	NM_000918.4(P4HB):c.1291G>A (p.Glu431Lys)	P4HB (E431K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969856	NM_000918.4(P4HB):c.568A>T (p.Ser190Cys)	P4HB (S190C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966079	NM_000918.4(P4HB):c.549A>G (p.Pro183=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965663	NM_000918.4(P4HB):c.1266C>T (p.Ile422=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960115	NM_000918.4(P4HB):c.1006G>T (p.Ala336Ser)	P4HB (A336S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2959249	NM_000918.4(P4HB):c.1360-15C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958620	NM_000918.4(P4HB):c.1446+14C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958477	NM_000918.4(P4HB):c.363G>A (p.Glu121=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954911	NM_000918.4(P4HB):c.624+19C>G	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907534	NM_000918.4(P4HB):c.82G>A (p.Val28Met)	P4HB (V28M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896810	NM_000918.4(P4HB):c.939G>A (p.Pro313=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895901	NM_000918.4(P4HB):c.1447-7A>G	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889008	NM_000918.4(P4HB):c.942C>T (p.Ala314=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884550	NM_000918.4(P4HB):c.802T>G (p.Tyr268Asp)	P4HB (Y268D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883513	NM_000918.4(P4HB):c.498G>A (p.Ser166=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881565	NM_000918.4(P4HB):c.566A>G (p.Asn189Ser)	P4HB (N189S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2873569	NM_000918.4(P4HB):c.729+4C>A	P4HB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2870980	NM_000918.4(P4HB):c.1456G>A (p.Asp486Asn)	P4HB (D486N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866745	NM_000918.4(P4HB):c.300C>T (p.Pro100=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858868	NM_000918.4(P4HB):c.1255A>G (p.Asn419Asp)	P4HB (N419D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854754	NM_000918.4(P4HB):c.1178-10T>C	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851462	NM_000918.4(P4HB):c.505G>A (p.Ala169Thr)	P4HB (A169T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848891	NM_000918.4(P4HB):c.730-1G>A	P4HB	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2844224	NM_000918.4(P4HB):c.536T>C (p.Ile179Thr)	P4HB (I179T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824937	NM_000918.4(P4HB):c.816G>A (p.Leu272=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811723	NM_000918.4(P4HB):c.352+19C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807413	NM_000918.4(P4HB):c.216A>C (p.Ala72=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795727	NM_000918.4(P4HB):c.486+9C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790105	NM_000918.4(P4HB):c.19C>T (p.Leu7=)	LOC130061971, P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785502	NM_000918.4(P4HB):c.390G>A (p.Lys130=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785270	NM_000918.4(P4HB):c.1018A>G (p.Thr340Ala)	P4HB (T340A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778942	NM_000918.4(P4HB):c.339C>T (p.Pro113=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769431	NM_000918.4(P4HB):c.639G>T (p.Arg213=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766546	NM_000918.4(P4HB):c.395G>C (p.Arg132Pro)	P4HB (R132P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756185	NM_000918.4(P4HB):c.1253A>G (p.Glu418Gly)	P4HB (E418G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746130	NM_000918.4(P4HB):c.1014G>A (p.Arg338=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744607	NM_000918.4(P4HB):c.625-20G>C	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744606	NM_000918.4(P4HB):c.729+13T>G	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2720603	NM_000918.4(P4HB):c.398C>T (p.Thr133Met)	P4HB (T133M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715283	NM_000918.4(P4HB):c.146-8G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712785	NM_000918.4(P4HB):c.38C>T (p.Ala13Val)	P4HB (A13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703382	NM_000918.4(P4HB):c.487-18T>C	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693214	NM_000918.4(P4HB):c.624+18G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2648467	NM_000918.4(P4HB):c.1280C>T (p.Ser427Leu)	P4HB (S427L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2632582	NM_000918.4(P4HB):c.475G>T (p.Gly159Cys)	P4HB (G159C)	Single nucleotide variant (missense variant)	P4HB-related disorder	GUncertain significance
Select item 2631813	NM_000918.4(P4HB):c.994G>A (p.Glu332Lys)	P4HB (E332K)	Single nucleotide variant (missense variant)	P4HB-related disorder	GUncertain significance
Select item 2528496	NM_000918.4(P4HB):c.706C>T (p.Leu236Phe)	P4HB (L236F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2443500	NM_000918.4(P4HB):c.1160del (p.Asn387fs)	P4HB (N387fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2434539	NM_000918.4(P4HB):c.1453G>C (p.Glu485Gln)	P4HB (E485Q)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 1	GUncertain significance
Select item 2425656	NC_000017.10:g.(?_79618104)_(79894690_?)dup	ALYREF, ANAPC11 +17 more	Duplication	not provided	GUncertain significance
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2419662	NM_000918.4(P4HB):c.1381C>T (p.Arg461Cys)	P4HB (R461C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418150	NM_000918.4(P4HB):c.23G>A (p.Cys8Tyr)	LOC130061971, P4HB (C8Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412808	NM_000918.4(P4HB):c.1199_1200delinsTT (p.Cys400Phe)	P4HB (C400F)	Indel (missense variant)	Cole-Carpenter syndrome 1	GUncertain significance
Select item 2398556	NM_000918.4(P4HB):c.1009G>A (p.Glu337Lys)	P4HB (E337K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381403	NM_000918.4(P4HB):c.1355G>A (p.Arg452Lys)	P4HB (R452K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2314928	NM_000918.4(P4HB):c.233G>C (p.Arg78Thr)	P4HB (R78T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308588	NM_000918.4(P4HB):c.1489G>A (p.Glu497Lys)	P4HB (E497K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286688	NM_000918.4(P4HB):c.13G>A (p.Ala5Thr)	LOC130061971, P4HB (A5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280960	NM_000918.4(P4HB):c.10C>G (p.Arg4Gly)	LOC130061971, P4HB (R4G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200815	NM_000918.4(P4HB):c.1275G>A (p.Met425Ile)	P4HB (M425I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192886	NM_000918.4(P4HB):c.474C>T (p.Ile158=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187472	NM_000918.4(P4HB):c.625-10C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2181661	NM_000918.4(P4HB):c.573C>T (p.Asp191=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2172348	NM_000918.4(P4HB):c.145+9C>G	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2169599	NM_000918.4(P4HB):c.1198T>C (p.Cys400Arg)	P4HB (C400R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2162703	NM_000918.4(P4HB):c.787A>C (p.Lys263Gln)	P4HB (K263Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154855	NM_000918.4(P4HB):c.864C>T (p.Phe288=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GBenign

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