3615[Gene ID] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 155443	GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4	ARIH2, CCDC71 +34 more	Copy number gain	See cases	GUncertain significance
Select item 2618265	NM_000884.3(IMPDH2):c.1504G>A (p.Gly502Ser)	IMPDH2 (G477S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505613	NM_000884.3(IMPDH2):c.1471G>C (p.Glu491Gln)	IMPDH2 (E466Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758699	NM_000884.3(IMPDH2):c.1465_1470del (p.Lys489_Phe490del)	IMPDH2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3052647	NM_000884.3(IMPDH2):c.1440-9C>T	IMPDH2	Single nucleotide variant (intron variant)	IMPDH2-related disorder	GLikely benign
Select item 2311691	NM_000884.3(IMPDH2):c.1357A>G (p.Ile453Val)	IMPDH2 (I428V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3343489	NM_000884.3(IMPDH2):c.1305C>G (p.Asp435Glu)	IMPDH2 (D410E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504438	NM_000884.3(IMPDH2):c.1142C>T (p.Ala381Val)	IMPDH2 (A356V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653817	NM_000884.3(IMPDH2):c.1094G>A (p.Gly365Glu)	IMPDH2 (G340E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446351	NM_000884.3(IMPDH2):c.1044C>A (p.Tyr348Ter)	IMPDH2 (Y323* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2616119	NM_000884.3(IMPDH2):c.965G>A (p.Arg322Gln)	IMPDH2 (R297Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109570	NM_000884.3(IMPDH2):c.880T>C (p.Tyr294His)	IMPDH2 (Y294H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1229935	NM_000884.3(IMPDH2):c.819+10T>C	IMPDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 14833	NM_000884.3(IMPDH2):c.787C>T (p.Leu263Phe)	IMPDH2 (L263F)	Single nucleotide variant (missense variant)	IMPDH2 enzyme activity, variation in	GAffects
Select item 2383795	NM_000884.3(IMPDH2):c.750T>G (p.Ile250Met)	IMPDH2 (I250M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1964147	NM_000884.3(IMPDH2):c.749T>G (p.Ile250Ser)	IMPDH2 (I225S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329842	NM_000884.3(IMPDH2):c.715G>C (p.Asp239His)	IMPDH2 (D239H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966023	NM_000884.3(IMPDH2):c.713A>G (p.Lys238Arg)	IMPDH2 (K213R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3252434	NM_000884.3(IMPDH2):c.637_639del (p.Asn213del)	IMPDH2 (N188del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1305966	NM_000884.3(IMPDH2):c.619G>C (p.Gly207Arg)	IMPDH2 (G207R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2398827	NM_000884.3(IMPDH2):c.614A>G (p.Lys205Arg)	IMPDH2 (K180R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3253030	NM_000884.3(IMPDH2):c.593A>G (p.Asn198Ser)	IMPDH2 (N173S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405114	NM_000884.3(IMPDH2):c.541A>G (p.Lys181Glu)	IMPDH2 (K156E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051076	NM_000884.3(IMPDH2):c.532-5C>T	IMPDH2	Single nucleotide variant (intron variant)	IMPDH2-related disorder	GLikely benign
Select item 3109569	NM_000884.3(IMPDH2):c.440C>T (p.Thr147Ile)	IMPDH2 (T147I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205912	NM_000884.3(IMPDH2):c.382C>T (p.Arg128Trp)	IMPDH2 (R128W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359650	NM_000884.3(IMPDH2):c.368C>G (p.Pro123Arg)	IMPDH2 (P98R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1803982	NM_000884.3(IMPDH2):c.338G>A (p.Gly113Glu)	IMPDH2 (G113E +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GLikely pathogenic
Select item 3285976	NM_000884.3(IMPDH2):c.263T>C (p.Ile88Thr)	IMPDH2 (I88T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2581885	NM_000884.3(IMPDH2):c.242C>A (p.Ala81Glu)	IMPDH2 (A81E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775868	NM_000884.3(IMPDH2):c.99-4G>A	IMPDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164002	NM_000884.3(IMPDH2):c.93_96del (p.Tyr32fs)	IMPDH2 (Y32fs)	Deletion (frameshift variant)	Dystonic disorder	GLikely pathogenic
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 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 1527017	GRCh37/hg19 3p21.31(chr3:49060512-49678685)	AMT, BSN +17 more	Copy number gain	not specified	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
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 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

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Items: 45