ClinVar for Gene (Select 55152) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270847	NM_001009996.3(DALRD3):c.1609C>G (p.Leu537Val)	DALRD3, WDR6 (L537V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3270846	NM_001009996.3(DALRD3):c.853T>C (p.Cys285Arg)	DALRD3 (C118R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270845	NM_001009996.3(DALRD3):c.1520G>A (p.Arg507Gln)	DALRD3, WDR6 (R340Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3270844	NM_001009996.3(DALRD3):c.737C>T (p.Ser246Phe)	DALRD3 (S246F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270843	NM_001009996.3(DALRD3):c.563C>T (p.Ser188Phe)	DALRD3 (S188F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	SLC25A20, TCTA +23 more	Deletion	Carnitine acylcarnitine translocase deficiency +2 more	GPathogenic
Select item 3246860	NC_000003.11:g.(?_48895143)_(49213234_?)del	ARIH2, ARIH2OS +13 more	Deletion	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 3080039	NM_001009996.3(DALRD3):c.430G>A (p.Asp144Asn)	DALRD3 (D144N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080038	NM_001009996.3(DALRD3):c.386C>T (p.Pro129Leu)	DALRD3 (P129L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080037	NM_001009996.3(DALRD3):c.235G>A (p.Ala79Thr)	DALRD3 (A79T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080036	NM_001009996.3(DALRD3):c.200T>G (p.Leu67Arg)	DALRD3 (L67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080035	NM_001009996.3(DALRD3):c.1612C>T (p.Pro538Ser)	DALRD3, WDR6 (P538S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3080033	NM_001009996.3(DALRD3):c.1181C>T (p.Thr394Met)	DALRD3 (T394M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067222	NM_001009996.3(DALRD3):c.1090G>A (p.Val364Ile)	DALRD3 (V197I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653816	NM_001009996.3(DALRD3):c.96C>A (p.Thr32=)	DALRD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653815	NM_001009996.3(DALRD3):c.249G>A (p.Ala83=)	DALRD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2629024	NM_001009996.3(DALRD3):c.-5T>C	DALRD3	Single nucleotide variant (5 prime UTR variant +1 more)	DALRD3-related disorder	GUncertain significance
Select item 2618243	NM_001009996.3(DALRD3):c.740T>C (p.Val247Ala)	DALRD3 (V247A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583013	NM_001009996.3(DALRD3):c.777C>A (p.Pro259=)	DALRD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578944	NM_001009996.3(DALRD3):c.420G>A (p.Val140=)	DALRD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2571179	NM_001009996.3(DALRD3):c.238C>T (p.Pro80Ser)	DALRD3 (P80S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2537046	NM_001009996.3(DALRD3):c.325G>T (p.Ala109Ser)	DALRD3 (A109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532771	NM_001009996.3(DALRD3):c.887T>A (p.Leu296Gln)	DALRD3 (L129Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523477	NM_001009996.3(DALRD3):c.386C>G (p.Pro129Arg)	DALRD3 (P129R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519965	NM_001009996.3(DALRD3):c.820A>C (p.Thr274Pro)	DALRD3 (T274P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509948	NM_001009996.3(DALRD3):c.1349T>C (p.Phe450Ser)	DALRD3 (F283S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494249	NM_001009996.3(DALRD3):c.1346T>G (p.Leu449Arg)	DALRD3 (L449R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461838	NM_001009996.3(DALRD3):c.40G>C (p.Ala14Pro)	DALRD3 (A14P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2380887	NM_001009996.3(DALRD3):c.1466T>G (p.Leu489Arg)	DALRD3, WDR6 (L489R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2376132	NM_001009996.3(DALRD3):c.1412C>T (p.Pro471Leu)	DALRD3 (P471L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362329	NM_001009996.3(DALRD3):c.493G>C (p.Asp165His)	DALRD3 (D165H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333357	NM_001009996.3(DALRD3):c.1327G>A (p.Glu443Lys)	DALRD3 (E276K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329903	NM_001009996.3(DALRD3):c.1301G>A (p.Ser434Asn)	DALRD3 (S267N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328760	NM_001009996.3(DALRD3):c.1586A>G (p.His529Arg)	DALRD3, WDR6 (H362R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2327970	NM_001009996.3(DALRD3):c.1017G>T (p.Gln339His)	DALRD3 (Q172H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322845	NM_001009996.3(DALRD3):c.487G>C (p.Val163Leu)	DALRD3 (V163L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322213	NM_001009996.3(DALRD3):c.1034C>T (p.Ala345Val)	DALRD3 (A178V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301332	NM_001009996.3(DALRD3):c.667G>A (p.Glu223Lys)	DALRD3 (E223K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244103	NM_001009996.3(DALRD3):c.221C>T (p.Pro74Leu)	DALRD3 (P74L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239516	NM_001009996.3(DALRD3):c.68G>A (p.Gly23Asp)	DALRD3 (G23D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234459	NM_001009996.3(DALRD3):c.1549C>T (p.Arg517Cys)	DALRD3, WDR6 (P508L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2221185	NM_001009996.3(DALRD3):c.1226G>A (p.Arg409His)	DALRD3 (R242H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219688	NM_001009996.3(DALRD3):c.932A>T (p.His311Leu)	DALRD3 (H144L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879581	NM_001009996.3(DALRD3):c.698_699dup (p.Asn234fs)	DALRD3 (N234fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1342485	NM_001009996.3(DALRD3):c.1225C>T (p.Arg409Cys)	DALRD3 (R242C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 86	GUncertain significance
Select item 1342120	NM_001009996.3(DALRD3):c.1512+18T>C	DALRD3, WDR6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 1243511	NM_199073.2(NDUFAF3):c.-134G>T	DALRD3, NDUFAF3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1232531	NM_001009996.3(DALRD3):c.896A>G (p.Gln299Arg)	DALRD3 (Q132R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1211219	NM_199073.2(NDUFAF3):c.-164A>G	NDUFAF3, DALRD3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 918077	NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter)	DALRD3 (Y417* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 86	GConflicting classifications of pathogenicity
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 155443	GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4	ARIH2, CCDC71 +34 more	Copy number gain	See cases	GUncertain significance
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 62