30061[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	LOC129935268, LOC129935269 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 146486	GRCh38/hg38 2q32.2(chr2:188947503-189689613)x1	ANKAR, ASDURF +19 more	Copy number loss	See cases	GPathogenic
Select item 529340	NC_000002.12:g.(?_188974470)_(189580480_?)del	LOC129935240, COL3A1 +11 more	Deletion	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 145813	GRCh38/hg38 2q32.2(chr2:189442378-189689554)x3	ANKAR, ASDURF +8 more	Copy number gain	See cases	GLikely benign
Select item 896702	NM_014585.6(SLC40A1):c.*1187T>G	SLC40A1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 4	GUncertain significance
Select item 333153	NM_014585.6(SLC40A1):c.*1130A>G	SLC40A1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 4	GBenign
Select item 333154	NM_014585.6(SLC40A1):c.*1123C>T	SLC40A1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 4	GBenign
Select item 896703	NM_014585.6(SLC40A1):c.*1000A>T	SLC40A1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 4	GUncertain significance
Select item 896704	NM_014585.6(SLC40A1):c.*833T>C	SLC40A1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 4	GBenign
Select item 333155	NM_014585.6(SLC40A1):c.*735dup	SLC40A1	Duplication (3 prime UTR variant)	Hereditary hemochromatosis	GLikely benign
Select item 333156	NM_014585.6(SLC40A1):c.*646C>T	SLC40A1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 4	GUncertain significance
Select item 333157	NM_014585.6(SLC40A1):c.420_421del	SLC40A1	Deletion (3 prime UTR variant)	Hereditary hemochromatosis	GUncertain significance
Select item 333158	NM_014585.6(SLC40A1):c.*309G>A	SLC40A1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 4	GUncertain significance
Select item 333159	NM_014585.6(SLC40A1):c.*289G>T	SLC40A1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 4	GBenign
Select item 897158	NM_014585.6(SLC40A1):c.*128A>G	SLC40A1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 4	GUncertain significance
Select item 333160	NM_014585.6(SLC40A1):c.*50G>A	SLC40A1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 4	GBenign
Select item 534236	NM_014585.6(SLC40A1):c.1681A>G (p.Arg561Gly)	SLC40A1 (R561G)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GBenign
Select item 2186002	NM_014585.6(SLC40A1):c.1660G>A (p.Gly554Ser)	SLC40A1 (G554S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3061254	NM_014585.6(SLC40A1):c.1647_1655del (p.Lys549_Ala552delinsAsn)	SLC40A1	Deletion (inframe_indel)	SLC40A1-related condition	GUncertain significance
Select item 333161	NM_014585.6(SLC40A1):c.1654G>A (p.Ala552Thr)	SLC40A1 (A552T)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GBenign
Select item 1683663	NM_014585.6(SLC40A1):c.1606A>T (p.Ile536Phe)	SLC40A1 (I536F)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 1364943	NM_014585.6(SLC40A1):c.1602C>A (p.Gly534=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2382652	NM_014585.6(SLC40A1):c.1597A>G (p.Met533Val)	SLC40A1 (M533V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 917398	NM_014585.6(SLC40A1):c.1592T>C (p.Val531Ala)	SLC40A1 (V531A)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GPathogenic
Select item 2890587	NM_014585.6(SLC40A1):c.1588T>C (p.Phe530Leu)	SLC40A1 (F530L)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 1563752	NM_014585.6(SLC40A1):c.1572A>G (p.Val524=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 333162	NM_014585.6(SLC40A1):c.1570G>A (p.Val524Ile)	SLC40A1 (V524I)	Single nucleotide variant (missense variant)	Hemochromatosis type 4 +2 more	GConflicting classifications of pathogenicity
Select item 1986499	NM_014585.6(SLC40A1):c.1569C>G (p.Leu523=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 333163	NM_014585.6(SLC40A1):c.1569C>T (p.Leu523=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GBenign/Likely benign
Select item 764711	NM_014585.6(SLC40A1):c.1533C>T (p.Val511=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 216680	NM_014585.6(SLC40A1):c.1520A>G (p.His507Arg)	SLC40A1 (H507R)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 986335	NM_014585.6(SLC40A1):c.1502A>G (p.Tyr501Cys)	SLC40A1 (Y501C)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 333164	NM_014585.6(SLC40A1):c.1483G>A (p.Val495Ile)	SLC40A1 (V495I)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 488153	NM_014585.6(SLC40A1):c.1481G>A (p.Gly494Asp)	SLC40A1 (G494D)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GPathogenic
Select item 406376	NM_014585.6(SLC40A1):c.1469G>A (p.Gly490Asp)	SLC40A1 (G490D)	Single nucleotide variant (missense variant)	SLC40A1-related condition +1 more	GPathogenic
Select item 986334	NM_014585.6(SLC40A1):c.1468G>A (p.Gly490Ser)	SLC40A1 (G490S)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 2802868	NM_014585.6(SLC40A1):c.1425T>C (p.Thr475=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 701239	NM_014585.6(SLC40A1):c.1413C>G (p.Ser471=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 701275	NM_014585.6(SLC40A1):c.1403-7A>G	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2904800	NM_014585.6(SLC40A1):c.1403-13T>A	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2852583	NM_014585.6(SLC40A1):c.1403-14dup	SLC40A1	Duplication (intron variant)	Hemochromatosis type 4	GBenign
Select item 534235	NM_014585.6(SLC40A1):c.1402+10C>A	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 1035851	NM_014585.6(SLC40A1):c.1402+4A>G	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GUncertain significance
Select item 1016173	NM_014585.6(SLC40A1):c.1402G>A (p.Gly468Ser)	SLC40A1 (G468S)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 1575805	NM_014585.6(SLC40A1):c.1395T>C (p.Ala465=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 809126	NM_014585.6(SLC40A1):c.1384G>A (p.Val462Ile)	SLC40A1 (V462I)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2910735	NM_014585.6(SLC40A1):c.1383C>T (p.Gly461=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1568797	NM_014585.6(SLC40A1):c.1380A>G (p.Ala460=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1139267	NM_014585.6(SLC40A1):c.1371G>A (p.Leu457=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 898324	NM_014585.6(SLC40A1):c.1357A>T (p.Ile453Phe)	SLC40A1 (I453F)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely benign
Select item 698027	NM_014585.6(SLC40A1):c.1328C>T (p.Pro443Leu)	SLC40A1 (P443L)	Single nucleotide variant (missense variant)	Hemochromatosis type 4 +1 more	GBenign
Select item 2975559	NM_014585.6(SLC40A1):c.1298C>T (p.Ser433Phe)	SLC40A1 (S433F)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 1446802	NM_014585.6(SLC40A1):c.1295T>C (p.Met432Thr)	SLC40A1 (M432T)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 695283	NM_014585.6(SLC40A1):c.1294A>G (p.Met432Val)	SLC40A1 (M432V)	Single nucleotide variant (missense variant)	Hemochromatosis type 4 +1 more	GBenign
Select item 1209854	NM_014585.6(SLC40A1):c.1263_1264insGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTCAATTACACCTACC (p.Lys422delinsValArgLeuThrArgThrValTer)	SLC40A1	Insertion (nonsense)	Hemochromatosis type 4	GLikely pathogenic
Select item 1134330	NM_014585.6(SLC40A1):c.1256C>T (p.Thr419Ile)	SLC40A1 (T419I)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely benign
Select item 534234	NM_014585.6(SLC40A1):c.1252A>G (p.Ile418Val)	SLC40A1 (I418V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1647177	NM_014585.6(SLC40A1):c.1251A>G (p.Ser417=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1209853	NM_014585.6(SLC40A1):c.1250_1251insGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTC (p.Ser417_Ile418insThrArgThrValTer)	SLC40A1	Insertion (nonsense +1 more)	Hemochromatosis type 4	GLikely pathogenic
Select item 1979467	NM_014585.6(SLC40A1):c.1248G>A (p.Glu416=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 3017357	NM_014585.6(SLC40A1):c.1225C>G (p.Arg409Gly)	SLC40A1 (R409G)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely benign
Select item 534237	NM_014585.6(SLC40A1):c.1203C>T (p.Ser401=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4 +1 more	GBenign/Likely benign
Select item 2157717	NM_014585.6(SLC40A1):c.1191C>T (p.Pro397=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 986321	NM_014585.6(SLC40A1):c.1151T>G (p.Leu384Trp)	SLC40A1 (L384W)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 333165	NM_014585.6(SLC40A1):c.1132T>C (p.Leu378=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GBenign
Select item 1138112	NM_014585.6(SLC40A1):c.1131A>C (p.Gly377=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2551507	NM_014585.6(SLC40A1):c.1120C>G (p.Leu374Val)	SLC40A1 (L374V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1622353	NM_014585.6(SLC40A1):c.1119T>A (p.Gly373=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 56154	NM_014585.6(SLC40A1):c.1112G>A (p.Arg371Gln)	SLC40A1 (R371Q)	Single nucleotide variant (missense variant)	Hemochromatosis type 4 +1 more	GUncertain significance
Select item 2038353	NM_014585.6(SLC40A1):c.1111C>T (p.Arg371Trp)	SLC40A1 (R371W)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely benign
Select item 1403930	NM_014585.6(SLC40A1):c.1051A>G (p.Ile351Val)	SLC40A1 (I351V)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 986320	NM_014585.6(SLC40A1):c.1049C>T (p.Ala350Val)	SLC40A1 (A350V)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 488154	NM_014585.6(SLC40A1):c.1049C>A (p.Ala350Asp)	SLC40A1 (A350D)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GPathogenic
Select item 986319	NM_014585.6(SLC40A1):c.1048G>A (p.Ala350Thr)	SLC40A1 (A350T)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 3015363	NM_014585.6(SLC40A1):c.1047A>G (p.Ser349=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2046640	NM_014585.6(SLC40A1):c.1038G>C (p.Met346Ile)	SLC40A1 (M346I)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 3030688	NM_014585.6(SLC40A1):c.1035G>T (p.Leu345Phe)	SLC40A1 (L345F)	Single nucleotide variant (missense variant)	SLC40A1-related condition	GUncertain significance
Select item 986318	NM_014585.6(SLC40A1):c.1035G>C (p.Leu345Phe)	SLC40A1 (L345F)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 898325	NM_014585.6(SLC40A1):c.1035G>A (p.Leu345=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GUncertain significance
Select item 797894	NM_014585.6(SLC40A1):c.1008A>G (p.Gly336=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2761379	NM_014585.6(SLC40A1):c.1006G>A (p.Gly336Arg)	SLC40A1 (G336R)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2029389	NM_014585.6(SLC40A1):c.1005G>A (p.Gln335=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2863529	NM_014585.6(SLC40A1):c.993C>T (p.Tyr331=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2047852	NM_014585.6(SLC40A1):c.979A>G (p.Ile327Val)	SLC40A1 (I327V)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2580954	NM_014585.6(SLC40A1):c.977G>A (p.Cys326Tyr)	SLC40A1 (C326Y)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GPathogenic
Select item 2203235	NM_014585.6(SLC40A1):c.977G>T (p.Cys326Phe)	SLC40A1 (C326F)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 986333	NM_014585.6(SLC40A1):c.968G>A (p.Gly323Asp)	SLC40A1 (G323D)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 5415	NM_014585.6(SLC40A1):c.968G>T (p.Gly323Val)	SLC40A1 (G323V)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GPathogenic
Select item 1958569	NM_014585.6(SLC40A1):c.957G>A (p.Met319Ile)	SLC40A1 (M319I)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 631836	NM_014585.6(SLC40A1):c.957del (p.Met319fs)	SLC40A1 (M319fs)	Deletion (frameshift variant)	Hemochromatosis type 4	GUncertain significance
Select item 2881197	NM_014585.6(SLC40A1):c.930T>C (p.Ala310=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign

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