DPH2[gene] - ClinVar

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Items: 58

	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 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 3273592	NM_001384.5(DPH2):c.536G>C (p.Ser179Thr)	DPH2, LOC126805726 (S31T +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)	Ventricular septal defect +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)	Ventricular septal defect +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 3273590	NM_001384.5(DPH2):c.986A>G (p.Asn329Ser)	DPH2, LOC126805726 (N181S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273591	NM_001384.5(DPH2):c.1013T>C (p.Leu338Pro)	DPH2, LOC126805726 (L190P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273589	NM_001384.5(DPH2):c.1055G>A (p.Gly352Asp)	DPH2, LOC126805726 (G217D +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 3247692	NC_000001.10:g.(?_44201934)_(44482805_?)del	ARTN, ATP6V0B +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
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	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: 58