18291[HGNC] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	ARMH1, ARTN +88 more	Copy number gain	See cases	GUncertain significance
Select item 3083010	NM_019100.5(DMAP1):c.4G>A (p.Ala2Thr)	DMAP1 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622683	NM_019100.5(DMAP1):c.122C>A (p.Ser41Tyr)	DMAP1 (S41Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535938	NM_019100.5(DMAP1):c.242G>A (p.Arg81His)	DMAP1 (R81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474310	NM_019100.5(DMAP1):c.278G>A (p.Arg93Gln)	DMAP1 (R93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679257	NM_019100.5(DMAP1):c.291G>C (p.Trp97Cys)	DMAP1 (W97C)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GUncertain significance
Select item 3083009	NM_019100.5(DMAP1):c.389A>G (p.Asn130Ser)	DMAP1 (N130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710473	NM_019100.5(DMAP1):c.394-1G>C	DMAP1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2512835	NM_019100.5(DMAP1):c.439C>T (p.Leu147Phe)	DMAP1 (L147F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312731	NM_019100.5(DMAP1):c.442C>T (p.His148Tyr)	DMAP1 (H148Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1252017	NM_019100.5(DMAP1):c.511T>C (p.Phe171Leu)	DMAP1 (F171L)	Single nucleotide variant (missense variant)	Profound global developmental delay +1 more	GUncertain significance
Select item 3272348	NM_019100.5(DMAP1):c.521T>C (p.Ile174Thr)	DMAP1 (I174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227879	NM_019100.5(DMAP1):c.540C>A (p.His180Gln)	DMAP1 (H180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068492	NM_019100.5(DMAP1):c.581G>A (p.Arg194Gln)	DMAP1 (R194Q)	Single nucleotide variant (missense variant)	DMAP1-associated disorder	GUncertain significance
Select item 2220770	NM_019100.5(DMAP1):c.587A>C (p.Tyr196Ser)	DMAP1 (Y196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068491	NM_019100.5(DMAP1):c.670C>T (p.Arg224Ter)	DMAP1 (R224*)	Single nucleotide variant (nonsense)	DMAP1-associated disorder	GUncertain significance
Select item 2265989	NM_019100.5(DMAP1):c.691G>C (p.Glu231Gln)	DMAP1 (E231Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083011	NM_019100.5(DMAP1):c.695G>A (p.Arg232His)	DMAP1 (R232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 806129	NM_019100.5(DMAP1):c.848G>A (p.Arg283His)	DMAP1 (R283H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1679375	NM_019100.5(DMAP1):c.1024del (p.Glu342fs)	DMAP1 (E342fs)	Deletion (frameshift variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 3083008	NM_019100.5(DMAP1):c.1184A>T (p.His395Leu)	DMAP1 (H395L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310069	NM_019100.5(DMAP1):c.1207G>A (p.Val403Met)	DMAP1 (V403M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710472	NM_019100.5(DMAP1):c.1344+3A>G	DMAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2474108	NM_019100.5(DMAP1):c.1381G>A (p.Val461Met)	DMAP1 (V461M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	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 814068	GRCh37/hg19 1p34.1(chr1:44424878-45207102)x1	IPO13, ERI3 +11 more	Copy number loss	not provided	GUncertain significance
Select item 689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	ARTN, ATP6V0B +24 more	Copy number loss	not provided	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 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 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic

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Items: 37