R3HDML[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065861, LOC130065862 +568 more	Copy number loss	See cases	GPathogenic
Select item 2293711	NM_178491.4(R3HDML):c.35G>A (p.Gly12Asp)	R3HDML (G12D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601580	NM_178491.4(R3HDML):c.83A>G (p.Asn28Ser)	R3HDML (N28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376352	NM_178491.4(R3HDML):c.98C>T (p.Pro33Leu)	R3HDML (P33L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2354258	NM_178491.4(R3HDML):c.167G>A (p.Arg56His)	R3HDML (R56H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568755	NM_178491.4(R3HDML):c.206A>T (p.Tyr69Phe)	R3HDML (Y69F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455178	NM_178491.4(R3HDML):c.221G>A (p.Arg74Gln)	R3HDML (R74Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359768	NM_178491.4(R3HDML):c.287C>A (p.Ala96Asp)	R3HDML (A96D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313406	NM_178491.4(R3HDML):c.377G>A (p.Gly126Asp)	R3HDML (G126D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353666	NM_178491.4(R3HDML):c.484G>A (p.Asp162Asn)	R3HDML (D162N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327694	NM_178491.4(R3HDML):c.503A>G (p.His168Arg)	R3HDML (H168R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463458	NM_178491.4(R3HDML):c.517G>A (p.Val173Met)	R3HDML (V173M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613103	NM_178491.4(R3HDML):c.575T>G (p.Val192Gly)	R3HDML (V192G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380528	NM_178491.4(R3HDML):c.646G>A (p.Glu216Lys)	R3HDML, R3HDML-AS1 (E216K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568370	NM_178491.4(R3HDML):c.653C>T (p.Pro218Leu)	R3HDML, R3HDML-AS1 (P218L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	GDAP1L1, GTSF1L +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 979733	GRCh37/hg19 20q13.12(chr20:42778133-43079191)x1	R3HDML, OSER1 +4 more	Copy number loss	not provided	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 493564	GRCh37/hg19 20q13.12(chr20:42818852-43180449)x3	PKIG, R3HDML +6 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 22