ClinVar for Gene (Select 120766137) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2696995	NM_005144.5(HR):c.-248C>T	HR, HRURF (P25L)	Single nucleotide variant (missense variant +1 more)	not provided	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 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2001115	NM_005144.5(HR):c.-248C>G	HR, HRURF (P25R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1341643	NM_005144.5(HR):c.-302C>A	HR, HRURF (S7*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1335706	NM_005144.5(HR):c.-320T>A	HRURF, HR (M1K)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 911345	NM_005144.5(HR):c.-599C>T	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 911136	NM_005144.5(HR):c.-572G>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 911135	NM_005144.5(HR):c.-469C>T	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 910247	NM_005144.5(HR):c.-380C>T	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 908293	NM_005144.5(HR):c.-106G>A	HRURF, HR	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 830233	NC_000008.11:g.22130706C>T	HRURF, HR	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 4	GPathogenic
Select item 362543	NM_005144.5(HR):c.-621T>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362542	NM_005144.5(HR):c.-615T>G	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +2 more	GBenign
Select item 362541	NM_005144.5(HR):c.-579CCGCCGCGCTCT[3]	HR, HRURF	Microsatellite (5 prime UTR variant)	Atrichia with papular lesions +2 more	GConflicting classifications of pathogenicity
Select item 362540	NM_005144.5(HR):c.-443G>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362539	NM_005144.5(HR):c.-439A>G	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 362538	NM_005144.5(HR):c.-411C>T	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 362537	NM_005144.5(HR):c.-333T>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +2 more	GBenign
Select item 362536	NM_005144.5(HR):c.-326G>A	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362535	NM_005144.5(HR):c.-136C>T	HR, HRURF	Single nucleotide variant (3 prime UTR variant +1 more)	Alopecia universalis congenita +1 more	GUncertain significance
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 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 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 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 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 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 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 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	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 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 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 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 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 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 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 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 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 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 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 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 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 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	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 59770	GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	BIN3, BIN3-IT1 +119 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 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 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 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 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 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 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 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 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 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 7344	NC_000008.11:g.22130605T>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 4	GPathogenic
Select item 7343	NC_000008.11:g.22130636G>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 4	GPathogenic
Select item 7342	NC_000008.11:g.22130702G>A	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 4	GPathogenic
Select item 7341	NC_000008.11:g.22130707A>G	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 4	GPathogenic

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Links from Gene

Items: 65