1802[geneid] - ClinVar

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

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +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 2479298	NM_001384.5(DPH2):c.64C>G (p.Leu22Val)	DPH2, LOC129930398 (L22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671662	NM_001384.5(DPH2):c.224C>G (p.Ser75Ter)	DPH2 (Q15E +1 more)	Single nucleotide variant (nonsense +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 2	GLikely pathogenic
Select item 2598035	NM_001384.5(DPH2):c.239T>C (p.Leu80Pro)	DPH2 (L4P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336711	NM_001384.5(DPH2):c.256G>A (p.Gly86Ser)	DPH2 (G10S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 694731	NM_001384.5(DPH2):c.260G>T (p.Ser87Ile)	DPH2 (E27* +2 more)	Single nucleotide variant (missense variant +2 more)	Global developmental delay +2 more	GUncertain significance
Select item 3085476	NM_001384.5(DPH2):c.268G>C (p.Val90Leu)	DPH2 (V90L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391431	NM_001384.5(DPH2):c.268G>A (p.Val90Met)	DPH2 (V90M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2277764	NM_001384.5(DPH2):c.268G>T (p.Val90Leu)	DPH2 (V14L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2490061	NM_001384.5(DPH2):c.274G>A (p.Val92Met)	DPH2 (V16M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085477	NM_001384.5(DPH2):c.374G>A (p.Arg125His)	DPH2 (R125H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085478	NM_001384.5(DPH2):c.496A>C (p.Thr166Pro)	DPH2, LOC126805726 (T18P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085479	NM_001384.5(DPH2):c.511C>T (p.Arg171Trp)	DPH2, LOC126805726 (R95W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546303	NM_001384.5(DPH2):c.562T>G (p.Ser188Ala)	DPH2, LOC126805726 (S188A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 872919	NM_001384.5(DPH2):c.601C>T (p.Arg201Cys)	DPH2, LOC126805726 (R125C +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 +3 more	GConflicting classifications of pathogenicity
Select item 2458123	NM_001384.5(DPH2):c.602G>A (p.Arg201His)	DPH2, LOC126805726 (R125H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085480	NM_001384.5(DPH2):c.692A>G (p.Asp231Gly)	DPH2, LOC126805726 (D83G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314357	NM_001384.5(DPH2):c.706C>T (p.Arg236Trp)	DPH2, LOC126805726 (R101W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085481	NM_001384.5(DPH2):c.710T>G (p.Leu237Arg)	DPH2, LOC126805726 (L161R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470959	NM_001384.5(DPH2):c.719G>A (p.Gly240Glu)	DPH2, LOC126805726 (G240E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085482	NM_001384.5(DPH2):c.787C>T (p.Arg263Trp)	DPH2, LOC126805726 (R128W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218222	NM_001384.5(DPH2):c.788G>A (p.Arg263Gln)	DPH2, LOC126805726 (R128Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065569	NM_001384.5(DPH2):c.844del (p.Arg282fs)	DPH2, LOC126805726 (R134fs +5 more)	Deletion (frameshift variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 2	GLikely pathogenic
Select item 3085483	NM_001384.5(DPH2):c.845G>T (p.Arg282Leu)	DPH2, LOC126805726 (R89L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085484	NM_001384.5(DPH2):c.875G>A (p.Gly292Asp)	DPH2, LOC126805726 (G157D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468534	NM_001384.5(DPH2):c.904C>A (p.His302Asn)	DPH2, LOC126805726 (H167N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236259	NM_001384.5(DPH2):c.915C>A (p.Asn305Lys)	DPH2, LOC126805726 (N170K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 872918	NM_001384.5(DPH2):c.922C>T (p.Gln308Ter)	DPH2, LOC126805726 (Q115* +5 more)	Single nucleotide variant (nonsense +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 +3 more	GConflicting classifications of pathogenicity
Select item 2483600	NM_001384.5(DPH2):c.929C>T (p.Ala310Val)	DPH2, LOC126805726 (A117V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477506	NM_001384.5(DPH2):c.964C>A (p.Pro322Thr)	DPH2, LOC126805726 (P174T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274818	NM_001384.5(DPH2):c.1117C>T (p.Pro373Ser)	DPH2, LOC126805726 (P180S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613070	NM_001384.5(DPH2):c.1256C>A (p.Pro419His)	DPH2, LOC126805726 (P328H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294184	NM_001384.5(DPH2):c.1342G>A (p.Ala448Thr)	DPH2, LOC126805726 (A255T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085472	NM_001384.5(DPH2):c.1388G>A (p.Arg463His)	DPH2, LOC126805726 (R235H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085473	NM_001384.5(DPH2):c.1394G>T (p.Gly465Val)	DPH2, LOC126805726 (G272V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085474	NM_001384.5(DPH2):c.1400C>T (p.Thr467Met)	DPH2, LOC126805726 (T467M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1687066	NM_001384.5(DPH2):c.1429C>T (p.Arg477Ter)	DPH2, LOC126805726 (R249* +6 more)	Single nucleotide variant (nonsense)	diphthamide-deficiency syndrome	GLikely pathogenic
Select item 3085475	NM_001384.5(DPH2):c.1430G>A (p.Arg477Gln)	DPH2, LOC126805726 (R249Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425558	NC_000001.10:g.(?_44360035)_(44482805_?)dup	ARTN, ATP6V0B +6 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	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 1515804	NC_000001.10:g.(?_44360035)_(44482805_?)del	ARTN, ATP6V0B +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
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	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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

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: 53