5034[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	LOC130062002, LOC130062003 +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 1178163	NM_000918.4(P4HB):c.*217A>C	P4HB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1508422	NM_000918.4(P4HB):c.1514A>G (p.Lys505Arg)	P4HB (K505R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1954146	NM_000918.4(P4HB):c.1495GAT[1] (p.Asp500del)	P4HB (D500del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 708233	NM_000918.4(P4HB):c.1497T>C (p.Asp499=)	P4HB	Single nucleotide variant (synonymous variant)	P4HB-related condition +1 more	GBenign/Likely benign
Select item 1435400	NM_000918.4(P4HB):c.1495G>A (p.Asp499Asn)	P4HB (D499N)	Single nucleotide variant (missense variant)	not provided	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 1956266	NM_000918.4(P4HB):c.1476G>A (p.Glu492=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 746807	NM_000918.4(P4HB):c.1452C>T (p.Leu484=)	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 1269426	NM_000918.4(P4HB):c.1447-9G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020328	NM_000918.4(P4HB):c.1447-15T>C	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272512	NM_000918.4(P4HB):c.1447-87C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232850	NM_000918.4(P4HB):c.1447-161_1447-160del	P4HB	Deletion (intron variant)	not provided	GBenign
Select item 1203912	NM_000918.4(P4HB):c.1447-163C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214680	NM_000918.4(P4HB):c.1447-303G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205114	NM_000918.4(P4HB):c.1446+76C>G	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226339	NM_000918.4(P4HB):c.1446+70T>G	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2958620	NM_000918.4(P4HB):c.1446+14C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1509318	NM_000918.4(P4HB):c.1444G>T (p.Asp482Tyr)	P4HB (D482Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725020	NM_000918.4(P4HB):c.1443T>C (p.Asp481=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1380016	NM_000918.4(P4HB):c.1424A>G (p.Gln475Arg)	P4HB (Q475R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499194	NM_000918.4(P4HB):c.1420G>A (p.Gly474Ser)	P4HB (G474S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042748	NM_000918.4(P4HB):c.1416C>T (p.Ser472=)	P4HB	Single nucleotide variant (synonymous variant)	P4HB-related condition	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 737563	NM_000918.4(P4HB):c.1407C>T (p.Phe469=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2986842	NM_000918.4(P4HB):c.1376G>A (p.Gly459Glu)	P4HB (G459E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733895	NM_000918.4(P4HB):c.1374C>T (p.Asn458=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2120753	NM_000918.4(P4HB):c.1365_1366inv (p.Asp456Asn)	P4HB (D456N)	Inversion (missense variant)	not provided	GLikely benign
Select item 1261993	NM_000918.4(P4HB):c.1365T>C (p.Ile455=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1899667	NM_000918.4(P4HB):c.1360-11G>A	P4HB	Single nucleotide variant (intron 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 1667612	NM_000918.4(P4HB):c.1359+20G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1991923	NM_000918.4(P4HB):c.1359+19C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1545019	NM_000918.4(P4HB):c.1359+14C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242747	NM_000918.4(P4HB):c.1359+4C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1564204	NM_000918.4(P4HB):c.1358C>T (p.Thr453Met)	P4HB (T453M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2381403	NM_000918.4(P4HB):c.1355G>A (p.Arg452Lys)	P4HB (R452K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 740463	NM_000918.4(P4HB):c.1350C>T (p.Ala450=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1544257	NM_000918.4(P4HB):c.1323C>G (p.Pro441=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1415619	NM_000918.4(P4HB):c.1306A>G (p.Lys436Glu)	P4HB (K436E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291647	NM_000918.4(P4HB):c.1302C>T (p.Ala434=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 1982622	NM_000918.4(P4HB):c.1290C>T (p.Asn430=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2648467	NM_000918.4(P4HB):c.1280C>T (p.Ser427Leu)	P4HB (S427L)	Single nucleotide variant (missense variant)	not provided	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 2965663	NM_000918.4(P4HB):c.1266C>T (p.Ile422=)	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 2756185	NM_000918.4(P4HB):c.1253A>G (p.Glu418Gly)	P4HB (E418G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729031	NM_000918.4(P4HB):c.1251T>C (p.His417=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2993655	NM_000918.4(P4HB):c.1239G>A (p.Thr413=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371854	NM_000918.4(P4HB):c.1238C>T (p.Thr413Met)	P4HB (T413M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2053788	NM_000918.4(P4HB):c.1237A>G (p.Thr413Ala)	P4HB (T413A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136164	NM_000918.4(P4HB):c.1214C>T (p.Pro405Leu)	P4HB (P405L)	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 870116	NM_000918.4(P4HB):c.1200C>G (p.Cys400Trp)	P4HB (C400W)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome	GUncertain significance
Select item 1379119	NM_000918.4(P4HB):c.1199G>T (p.Cys400Phe)	P4HB (C400F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425148	NM_000918.4(P4HB):c.1199G>A (p.Cys400Tyr)	P4HB (C400Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1367253	NM_000918.4(P4HB):c.1192G>A (p.Gly398Ser)	P4HB (G398S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189337	NM_000918.4(P4HB):c.1178A>G (p.Tyr393Cys)	P4HB (Y393C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2854754	NM_000918.4(P4HB):c.1178-10T>C	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970122	NM_000918.4(P4HB):c.1177+17C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747053	NM_000918.4(P4HB):c.1177+10G>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1593421	NM_000918.4(P4HB):c.1161C>T (p.Asn387=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443500	NM_000918.4(P4HB):c.1160del (p.Asn387fs)	P4HB (N387fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 737003	NM_000918.4(P4HB):c.1158A>G (p.Lys386=)	P4HB	Single nucleotide variant (synonymous variant)	P4HB-related condition +1 more	GLikely benign
Select item 2053946	NM_000918.4(P4HB):c.1153A>G (p.Lys385Glu)	P4HB (K385E)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 1 +1 more	GUncertain significance
Select item 931909	NM_000918.4(P4HB):c.1148A>T (p.Asp383Val)	P4HB (D383V)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 1	GUncertain significance
Select item 1907817	NM_000918.4(P4HB):c.1137C>T (p.Asp379=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009516	NM_000918.4(P4HB):c.1136A>T (p.Asp379Val)	P4HB (D379V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005466	NM_000918.4(P4HB):c.1096A>G (p.Lys366Glu)	P4HB (K366E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989466	NM_000918.4(P4HB):c.1095C>G (p.Asp365Glu)	P4HB (D365E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080955	NM_000918.4(P4HB):c.1083G>A (p.Pro361=)	P4HB	Single nucleotide variant (synonymous variant)	P4HB-related condition +1 more	GBenign/Likely benign
Select item 1563252	NM_000918.4(P4HB):c.1057-20G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253925	NM_000918.4(P4HB):c.1057-122C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1672413	NM_000918.4(P4HB):c.1056+16dup	P4HB	Duplication (intron variant)	not provided	GBenign
Select item 1634600	NM_000918.4(P4HB):c.1056+17G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632812	NM_000918.4(P4HB):c.1056+16C>A	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1552641	NM_000918.4(P4HB):c.1056+14C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2039010	NM_000918.4(P4HB):c.1056+10C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2055573	NM_000918.4(P4HB):c.1056+9G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255033	NM_000918.4(P4HB):c.1033C>G (p.Arg345Gly)	P4HB (R345G)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2746130	NM_000918.4(P4HB):c.1014G>A (p.Arg338=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2960115	NM_000918.4(P4HB):c.1006G>T (p.Ala336Ser)	P4HB (A336S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1622329	NM_000918.4(P4HB):c.1005G>A (p.Thr335=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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