Related gene-specific medical variations for Gene (Select 55806) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065311	NM_005144.5(HR):c.3199C>T (p.Arg1067Cys)	HR (R1067C)	Single nucleotide variant (missense variant)	Atrichia with papular lesions	GUncertain significance
Select item 3064835	NM_005144.5(HR):c.1915+1G>A	HR	Single nucleotide variant (splice donor variant)	Atrichia with papular lesions	GLikely pathogenic
Select item 2696995	NM_001394132.1(HRURF):c.74C>T (p.Pro25Leu)	HR, HRURF (P25L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2001115	NM_001394132.1(HRURF):c.74C>G (p.Pro25Arg)	HR, HRURF (P25R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1703757	NM_005144.5(HR):c.1263_1283del (p.Ala422_Pro428del)	HR	Deletion (inframe_deletion)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1341643	NM_001394132.1(HRURF):c.20C>A (p.Ser7Ter)	HR, HRURF (S7*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1335706	NM_001394132.1(HRURF):c.2T>A (p.Met1Lys)	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	NM_005144.5(HR):c.-319G>A	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 4	GPathogenic
Select item 362543	NM_001394132.1(HRURF):c.-300T>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362542	NM_001394132.1(HRURF):c.-294T>G	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GBenign
Select item 362541	NM_001394132.1(HRURF):c.-258CCGCCGCGCTCT[3]	HRURF, HR	Microsatellite (5 prime UTR variant)	Alopecia universalis +2 more	GConflicting classifications of pathogenicity
Select item 362540	NM_001394132.1(HRURF):c.-122G>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362539	NM_001394132.1(HRURF):c.-118A>G	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362538	NM_001394132.1(HRURF):c.-90C>T	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 362537	NM_001394132.1(HRURF):c.-12T>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GBenign
Select item 362536	NM_001394132.1(HRURF):c.-5G>A	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362535	NM_001394132.1(HRURF):c.*81C>T	HR, HRURF	Single nucleotide variant (3 prime UTR variant +1 more)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 7344	NM_005144.5(HR):c.-218A>G	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 4	GPathogenic
Select item 7343	NM_005144.5(HR):c.-249C>G	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 4	GPathogenic
Select item 7342	NM_005144.5(HR):c.-315C>T	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 4	GPathogenic
Select item 7341	NM_005144.5(HR):c.-320T>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Hypotrichosis 4	GPathogenic

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Items: 26