7712[HGNC] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 155202	GRCh38/hg38 1p34.3(chr1:38490485-39548775)x1	AKIRIN1, BMP8A +53 more	Copy number loss	See cases	GLikely benign
Select item 789427	NM_004552.3(NDUFS5):c.30C>T (p.Phe10=)	NDUFS5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3299071	NM_004552.3(NDUFS5):c.88G>A (p.Ala30Thr)	NDUFS5 (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341086	NM_004552.3(NDUFS5):c.142G>A (p.Gly48Ser)	NDUFS5	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262721	NM_004552.3(NDUFS5):c.187T>C (p.Phe63Leu)	NDUFS5	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188346	NM_004552.3(NDUFS5):c.190G>A (p.Val64Ile)	NDUFS5 (V64I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219713	NM_004552.3(NDUFS5):c.206G>A (p.Arg69Gln)	NDUFS5	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618333	NM_004552.3(NDUFS5):c.217A>T (p.Met73Leu)	NDUFS5 (M73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355267	NM_004552.3(NDUFS5):c.230G>T (p.Gly77Val)	NDUFS5	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261787	NM_004552.3(NDUFS5):c.272A>G (p.Lys91Arg)	NDUFS5	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348221	NM_004552.3(NDUFS5):c.293A>C (p.His98Pro)	NDUFS5	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 281605	NM_004552.3(NDUFS5):c.*18G>A	NDUFS5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 988903	GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1	CAP1, GJA9 +18 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 565086	GRCh37/hg19 1p34.3(chr1:39094582-39794108)x3	AKIRIN1, RHBDL2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 23