ClinVar for Gene (Select 83597) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315733	NM_031440.2(RTP3):c.517C>G (p.Pro173Ala)	RTP3 (P173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315732	NM_031440.2(RTP3):c.506C>T (p.Thr169Ile)	RTP3 (T169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315731	NM_031440.2(RTP3):c.338G>A (p.Arg113Lys)	RTP3 (R113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157085	NM_031440.2(RTP3):c.467C>T (p.Ala156Val)	RTP3 (A156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157084	NM_031440.2(RTP3):c.302T>C (p.Phe101Ser)	RTP3 (F101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157083	NM_031440.2(RTP3):c.265T>C (p.Phe89Leu)	RTP3 (F89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528506	NM_031440.2(RTP3):c.256A>G (p.Met86Val)	RTP3 (M86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519460	NM_031440.2(RTP3):c.518C>G (p.Pro173Arg)	RTP3 (P173R)	Single nucleotide variant (missense variant)	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 2375931	NM_031440.2(RTP3):c.298C>G (p.Leu100Val)	RTP3 (L100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369518	NM_031440.2(RTP3):c.151G>A (p.Ala51Thr)	RTP3 (A51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363946	NM_031440.2(RTP3):c.694A>G (p.Ile232Val)	RTP3 (I232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346520	NM_031440.2(RTP3):c.644G>C (p.Cys215Ser)	RTP3 (C215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322287	NM_031440.2(RTP3):c.319A>G (p.Thr107Ala)	RTP3 (T107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294290	NM_031440.2(RTP3):c.229G>A (p.Glu77Lys)	RTP3 (E77K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2280999	NM_031440.2(RTP3):c.532A>G (p.Arg178Gly)	RTP3 (R178G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270677	NM_031440.2(RTP3):c.217A>G (p.Met73Val)	RTP3 (M73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216691	NM_031440.2(RTP3):c.245G>T (p.Gly82Val)	RTP3 (G82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210309	NM_031440.2(RTP3):c.161A>C (p.Gln54Pro)	RTP3 (Q54P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209120	NM_031440.2(RTP3):c.186G>C (p.Trp62Cys)	RTP3 (W62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205455	NM_031440.2(RTP3):c.366T>G (p.Ile122Met)	RTP3 (I122M)	Single nucleotide variant (missense variant)	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 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 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: 27