"GeneDx"[submitter] AND "HR"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 41

	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 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 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 59770	GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	BIN3, BIN3-IT1 +119 more	Copy number gain	See cases	GPathogenic
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 1177863	NM_005144.5(HR):c.3507+83G>A	HR	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 1270982	NM_005144.5(HR):c.3213+96T>C	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 7330	NM_005144.5(HR):c.3064A>G (p.Thr1022Ala)	HR (T1022A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1296778	NM_005144.5(HR):c.2978-76C>T	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288451	NM_005144.5(HR):c.2977+172G>A	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489115	NM_005144.5(HR):c.2886C>G (p.Tyr962Ter)	HR (Y962*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 392408	NM_005144.5(HR):c.2636G>A (p.Arg879Lys)	HR (R879K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291739	NM_005144.5(HR):c.2611-52T>C	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287336	NM_005144.5(HR):c.2611-68C>T	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 362489	NM_005144.5(HR):c.2570G>A (p.Arg857His)	HR (R857H)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +2 more	GBenign
Select item 362494	NM_005144.5(HR):c.2467G>A (p.Gly823Ser)	HR (G823S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 546290	NM_005144.5(HR):c.2422A>G (p.Lys808Glu)	HR (K808E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267696	NM_005144.5(HR):c.1916-180T>G	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271174	NM_005144.5(HR):c.1915+28C>G	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 362507	NM_005144.5(HR):c.1859G>A (p.Arg620Gln)	HR (R620Q)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +3 more	GBenign/Likely benign
Select item 449038	NM_005144.5(HR):c.1807T>A (p.Cys603Ser)	HR (C603S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251489	NM_005144.5(HR):c.1750+108G>A	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 362510	NM_005144.5(HR):c.1583A>G (p.Gln528Arg)	HR (Q528R)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +2 more	GBenign
Select item 362511	NM_005144.5(HR):c.1577T>C (p.Leu526Pro)	HR (L526P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1267668	NM_005144.5(HR):c.1406-281C>T	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233622	NM_005144.5(HR):c.1405+62C>T	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 362520	NM_005144.5(HR):c.1346T>G (p.Val449Gly)	HR (V449G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 362521	NM_005144.5(HR):c.1305T>C (p.Phe435=)	HR	Single nucleotide variant (synonymous variant)	Alopecia universalis congenita +2 more	GBenign
Select item 362523	NM_005144.5(HR):c.1190G>A (p.Cys397Tyr)	HR (C397Y)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +2 more	GBenign
Select item 362525	NM_005144.5(HR):c.1010G>A (p.Gly337Asp)	HR (G337D)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +2 more	GBenign
Select item 2663730	NM_005144.5(HR):c.926C>A (p.Pro309Gln)	HR (P309Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234288	NM_005144.5(HR):c.612+305T>A	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276309	NM_005144.5(HR):c.612+208G>A	HR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 362529	NM_005144.5(HR):c.188C>G (p.Pro63Arg)	HR (P63R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41