C0730292[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99448	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4 (R2107H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 92870	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Single nucleotide variant (intron variant)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 438100	NM_000350.3(ABCA4):c.5196+1137G>A	ABCA4	Single nucleotide variant (intron variant)	Cone-rod dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99292	NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	ABCA4 (Q1513fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 438096	NM_000350.3(ABCA4):c.4537del (p.Gln1513fs)	ABCA4 (Q1513fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 99288	NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	ABCA4 (C1490Y +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 99246	NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)	ABCA4 (R1300Q +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +6 more	GBenign/Likely benign
Select item 7894	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4 (A1038V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +9 more	GPathogenic/Likely pathogenic
Select item 99182	NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	ABCA4 (G991R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 99106	NM_000350.3(ABCA4):c.1938-1G>A	ABCA4	Single nucleotide variant (splice acceptor variant)	Macular dystrophy +2 more	GPathogenic
Select item 438089	NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly)	ABCA4 (D586G)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 99067	NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	ABCA4 (L541P)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 99062	NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)	ABCA4 (R537C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99513	NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)	ABCA4 (P309R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99505	NM_000350.3(ABCA4):c.768G>T (p.Val256=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 438108	NM_000350.3(ABCA4):c.719T>G (p.Ile240Arg)	ABCA4 (I240R)	Single nucleotide variant (missense variant)	Macular dystrophy	GLikely pathogenic
Select item 438083	NM_007348.4(ATF6):c.1018G>C (p.Ala340Pro)	ATF6 (A340P)	Single nucleotide variant (missense variant)	Macular dystrophy	GLikely pathogenic
Select item 96659	NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	CRB1	Deletion (inframe_deletion +1 more)	Autosomal recessive bestrophinopathy +9 more	GPathogenic/Likely pathogenic
Select item 99888	NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)	CRB1 (C896* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 12 +6 more	GPathogenic
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Retinal dystrophy +22 more	GPathogenic
Select item 5610	NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	PROM1 (R373C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic
Select item 9150	NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys)	GUCA1A, GUCA1ANB-GUCA1A (Y99C)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 437966	NM_000322.5(PRPH2):c.625G>T (p.Val209Phe)	PRPH2 (V209F)	Single nucleotide variant (missense variant)	Macular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 437965	NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	PRPH2 (G208D)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 438085	NM_001563.4(IMPG1):c.1157C>A (p.Ala386Asp)	IMPG1 (A386D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427711	NM_019098.5(CNGB3):c.2103+1G>A	CNGB3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 17641	NM_001793.6(CDH3):c.830del (p.Gly277fs)	CDH3 (G222fs +1 more)	Deletion (frameshift variant)	Congenital hypotrichosis with juvenile macular dystrophy +1 more	GPathogenic
Select item 9357	NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	GUCY2D (R838H)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 437960	NM_000554.6(CRX):c.295C>T (p.Gln99Ter)	CRX (Q99*)	Single nucleotide variant (nonsense)	Macular dystrophy	GLikely pathogenic
Select item 65410	NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	COL18A1, SLC19A1 (L1352fs +2 more)	Deletion (frameshift variant)	Retinal dystrophy +4 more	GPathogenic
Select item 438145	NM_001034853.2(RPGR):c.3453G>T (p.Leu1151Phe)	RPGR (L1151F)	Single nucleotide variant (missense variant +1 more)	Macular dystrophy	GLikely pathogenic
Select item 437942	NM_006915.3(RP2):c.11TCT[1] (p.Phe5del)	LOC130068202, RP2 (F5del)	Microsatellite (inframe_deletion)	Cone-rod dystrophy +2 more	GConflicting classifications of pathogenicity

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Items: 33