Related gene-specific medical variations for Gene (Select 120766137) - ClinVar

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Links from Gene

Items: 23

	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 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	HR, HRURF (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)	not provided +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 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: 23