7802[geneid] - ClinVar

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

Search results

Items: 47

	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 742079	NM_003462.5(DNALI1):c.-43C>T	DNALI1, LOC112577590	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2492840	NM_003462.5(DNALI1):c.-42A>T	DNALI1, LOC112577590	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3084617	NM_003462.5(DNALI1):c.-29G>T	DNALI1, LOC112577590	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3084618	NM_003462.5(DNALI1):c.-28C>G	DNALI1, LOC112577590	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2388876	NM_003462.5(DNALI1):c.-15A>G	DNALI1, LOC112577590	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 728924	NM_003462.5(DNALI1):c.27C>G (p.Leu9=)	DNALI1, LOC112577590	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3273143	NM_003462.5(DNALI1):c.85C>T (p.Arg29Trp)	DNALI1 (R29W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597948	NM_003462.5(DNALI1):c.86G>A (p.Arg29Gln)	DNALI1 (R29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588596	NM_003462.5(DNALI1):c.149C>G (p.Thr50Ser)	DNALI1 (T50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346997	NM_003462.5(DNALI1):c.216A>G (p.Ile72Met)	DNALI1 (I72M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386227	NM_003462.5(DNALI1):c.224C>T (p.Pro75Leu)	DNALI1 (P75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286316	NM_003462.5(DNALI1):c.264G>T (p.Gln88His)	DNALI1 (Q88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542242	NM_003462.5(DNALI1):c.431C>T (p.Ala144Val)	DNALI1 (A144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407402	NM_003462.5(DNALI1):c.461G>A (p.Arg154Gln)	DNALI1 (R154Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611012	NM_003462.5(DNALI1):c.478A>T (p.Thr160Ser)	DNALI1 (T160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273145	NM_003462.5(DNALI1):c.514G>A (p.Val172Met)	DNALI1 (V172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516294	NM_003462.5(DNALI1):c.523G>A (p.Gly175Ser)	DNALI1 (G175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084619	NM_003462.5(DNALI1):c.526A>G (p.Met176Val)	DNALI1 (M176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084620	NM_003462.5(DNALI1):c.533A>G (p.Lys178Arg)	DNALI1 (K178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273144	NM_003462.5(DNALI1):c.547G>A (p.Glu183Lys)	DNALI1 (E183K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769510	NM_003462.5(DNALI1):c.586T>C (p.Leu196=)	DNALI1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2354570	NM_003462.5(DNALI1):c.593C>T (p.Thr198Met)	DNALI1 (T198M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084621	NM_003462.5(DNALI1):c.625G>A (p.Glu209Lys)	DNALI1 (E209K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787745	NM_003462.5(DNALI1):c.632A>C (p.Lys211Thr)	DNALI1 (K211T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2489625	NM_003462.5(DNALI1):c.658C>T (p.Arg220Trp)	DNALI1 (R220W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500164	NM_003462.5(DNALI1):c.666_669del (p.Ser222fs)	DNALI1 (S222fs)	Deletion (frameshift variant)	Spermatogenic failure 83	GPathogenic
Select item 772680	NM_003462.5(DNALI1):c.666C>T (p.Ser222=)	DNALI1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2601035	NM_003462.5(DNALI1):c.671G>T (p.Arg224Met)	DNALI1 (R224M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084622	NM_003462.5(DNALI1):c.673C>T (p.Arg225Trp)	DNALI1 (R225W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338307	NM_003462.5(DNALI1):c.688AAG[1] (p.Lys231del)	DNALI1 (K231del)	Microsatellite	not provided	GUncertain significance
Select item 709356	NM_003462.5(DNALI1):c.691A>C (p.Lys231Gln)	DNALI1 (K231Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2556346	NM_003462.5(DNALI1):c.733C>A (p.Gln245Lys)	DNALI1 (Q245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711827	NM_003462.5(DNALI1):c.741+10G>A	DNALI1	Single nucleotide variant	not provided	GBenign
Select item 2426871	NC_000001.10:g.(?_38003349)_(38273852_?)dup	AIRIM, C1orf122 +8 more	Duplication	not provided	GUncertain significance
Select item 1526926	GRCh37/hg19 1p34.3(chr1:38001813-38043237)	DNALI1, GNL2 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
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 565085	GRCh37/hg19 1p34.3(chr1:38001813-38068791)x1	DNALI1, GNL2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 443349	GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3	AIRIM, C1orf122 +16 more	Copy number gain	See cases	GLikely benign
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
Select item 395479	GRCh37/hg19 1p34.3(chr1:38005705-38077489)x3	DNALI1, GNL2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 3338308	DNALI1, IVS3, G-A, -1	DNALI1	Single nucleotide variant	Spermatogenic failure 83	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: 47