55806[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 59770	GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	BIN3, BIN3-IT1 +119 more	Copy number gain	See cases	GPathogenic
Select item 911787	NM_005144.5(HR):c.*1270T>C	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 362454	NM_005144.5(HR):c.*1262G>C	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 908818	NM_005144.5(HR):c.*1253T>C	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 362455	NM_005144.5(HR):c.*1251dup	HR	Duplication (3 prime UTR variant)	Atrichia with papular lesions +1 more	GBenign
Select item 362456	NM_005144.5(HR):c.*1150C>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908819	NM_005144.5(HR):c.*1145C>T	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 908820	NM_005144.5(HR):c.*1125C>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 909670	NM_005144.5(HR):c.*1054C>T	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 909671	NM_005144.5(HR):c.*1020C>A	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362457	NM_005144.5(HR):c.*931T>C	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +2 more	GBenign
Select item 909672	NM_005144.5(HR):c.*904C>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 362458	NM_005144.5(HR):c.*894G>A	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GLikely benign
Select item 910600	NM_005144.5(HR):c.*885C>T	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362460	NM_005144.5(HR):c.*820G>A	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362459	NM_005144.5(HR):c.*820G>C	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +2 more	GBenign
Select item 911826	NM_005144.5(HR):c.*756G>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GBenign
Select item 362461	NM_005144.5(HR):c.*751G>C	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 911827	NM_005144.5(HR):c.*746C>G	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 362462	NM_005144.5(HR):c.*734G>A	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908875	NM_005144.5(HR):c.*617G>C	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908876	NM_005144.5(HR):c.*599T>G	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GBenign
Select item 362463	NM_005144.5(HR):c.*597C>T	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 908877	NM_005144.5(HR):c.*579C>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 909736	NM_005144.5(HR):c.*420C>T	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362464	NM_005144.5(HR):c.*303G>A	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 909737	NM_005144.5(HR):c.*295G>A	HR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 362465	NM_005144.5(HR):c.*294C>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 362466	NM_005144.5(HR):c.*240C>A	HR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 362467	NM_005144.5(HR):c.*218T>C	HR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 362468	NM_005144.5(HR):c.*185C>G	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362469	NM_005144.5(HR):c.*180G>A	HR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 362470	NM_005144.5(HR):c.*82G>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GLikely benign
Select item 362471	NM_005144.5(HR):c.*81C>T	HR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 911889	NM_005144.5(HR):c.*76G>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908945	NM_005144.5(HR):c.*75G>A	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GLikely benign
Select item 362472	NM_005144.5(HR):c.*30G>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 3106920	NM_005144.5(HR):c.3563C>A (p.Ala1188Asp)	HR (A1133D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 362473	NM_005144.5(HR):c.3544G>A (p.Val1182Met)	HR (V1182M +1 more)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 362474	NM_005144.5(HR):c.3537G>A (p.Lys1179=)	HR	Single nucleotide variant (synonymous variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 7339	NM_005144.5(HR):c.3526C>T (p.Gln1176Ter)	HR (Q1176* +1 more)	Single nucleotide variant (nonsense)	Atrichia with papular lesions	GPathogenic
Select item 1177863	NM_005144.5(HR):c.3507+83G>A	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 908946	NM_005144.5(HR):c.3507+12G>A	HR	Single nucleotide variant (intron variant)	Atrichia with papular lesions +2 more	GBenign/Likely benign
Select item 362475	NM_005144.5(HR):c.3470C>G (p.Pro1157Arg)	HR (P1157R +1 more)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +3 more	GBenign/Likely benign
Select item 2995488	NM_005144.5(HR):c.3462C>T (p.His1154=)	HR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903011	NM_005144.5(HR):c.3435C>T (p.Thr1145=)	HR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1314724	NM_005144.5(HR):c.3407T>C (p.Val1136Ala)	HR (V1081A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7331	NM_005144.5(HR):c.3407T>A (p.Val1136Asp)	HR (V1136D +1 more)	Single nucleotide variant (missense variant)	Alopecia universalis congenita	GPathogenic
Select item 909807	NM_005144.5(HR):c.3406G>A (p.Val1136Ile)	HR (V1081I +1 more)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 1923599	NM_005144.5(HR):c.3379-6A>G	HR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269342	NM_005144.5(HR):c.3379-29G>T	HR	Single nucleotide variant (intron variant)	Alopecia universalis congenita +2 more	GBenign
Select item 1251035	NM_005144.5(HR):c.3379-91T>G	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987248	NM_005144.5(HR):c.3378+18G>A	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021931	NM_005144.5(HR):c.3378+12C>A	HR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010919	NM_005144.5(HR):c.3352C>T (p.Leu1118=)	HR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3106919	NM_005144.5(HR):c.3349G>C (p.Val1117Leu)	HR (V1117L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 362476	NM_005144.5(HR):c.3340G>A (p.Gly1114Arg)	HR (G1114R)	Single nucleotide variant (missense variant +1 more)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362477	NM_005144.5(HR):c.3339C>A (p.Pro1113=)	HR	Single nucleotide variant (synonymous variant +1 more)	Atrichia with papular lesions +2 more	GBenign
Select item 2743341	NM_005144.5(HR):c.3338C>A (p.Pro1113His)	HR (P1113H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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