LOC129999258[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC123956263, LOC123956264 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129999343, LOC129999344 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 1181857	NM_000883.4(IMPDH1):c.147-35G>A	IMPDH1, LOC129999258	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251807	NM_000883.4(IMPDH1):c.147-52G>T	IMPDH1, LOC129999258	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1614211	NM_000883.4(IMPDH1):c.146+20G>C	IMPDH1, LOC129999258	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2140324	NM_000883.4(IMPDH1):c.146+19C>T	LOC129999258, IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1672818	NM_000883.4(IMPDH1):c.146+10A>G	IMPDH1, LOC129999258	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 358880	NM_000883.4(IMPDH1):c.146+9C>T	IMPDH1, LOC129999258	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 908059	NM_000883.4(IMPDH1):c.146+6G>T	IMPDH1, LOC129999258	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 2179431	NM_000883.4(IMPDH1):c.146+5C>A	IMPDH1, LOC129999258	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2895969	NM_000883.4(IMPDH1):c.146+3G>A	IMPDH1, LOC129999258	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1911547	NM_000883.4(IMPDH1):c.146+2T>G	IMPDH1, LOC129999258	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2739640	NM_000883.4(IMPDH1):c.144G>A (p.Glu48=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904282	NM_000883.4(IMPDH1):c.137A>C (p.Glu46Ala)	IMPDH1, LOC129999258 (E46A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252792	NM_000883.4(IMPDH1):c.133T>A (p.Tyr45Asn)	IMPDH1, LOC129999258 (Y45N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1057729	NM_000883.4(IMPDH1):c.133T>C (p.Tyr45His)	IMPDH1, LOC129999258 (Y45H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306392	NM_000883.4(IMPDH1):c.130G>C (p.Gly44Arg)	IMPDH1, LOC129999258 (G44R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501547	NM_000883.4(IMPDH1):c.128C>T (p.Ala43Val)	LOC129999258, IMPDH1 (A43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1086992	NM_000883.4(IMPDH1):c.123G>A (p.Leu41=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1657841	NM_000883.4(IMPDH1):c.120G>T (p.Leu40=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2000251	NM_000883.4(IMPDH1):c.116G>A (p.Arg39Gln)	IMPDH1, LOC129999258 (R39Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005897	NM_000883.4(IMPDH1):c.112G>T (p.Ala38Ser)	IMPDH1, LOC129999258 (A38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361613	NM_000883.4(IMPDH1):c.112G>A (p.Ala38Thr)	IMPDH1, LOC129999258 (A38T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368053	NM_000883.4(IMPDH1):c.104G>A (p.Arg35Gln)	IMPDH1, LOC129999258 (R35Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1556514	NM_000883.4(IMPDH1):c.87C>T (p.His29=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GBenign/Likely benign
Select item 1662813	NM_000883.4(IMPDH1):c.84A>C (p.Gly28=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551144	NM_000883.4(IMPDH1):c.81G>A (p.Pro27=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565706	NM_000883.4(IMPDH1):c.75A>G (p.Gln25=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848195	NM_000883.4(IMPDH1):c.72_73insAACCCGG (p.Gln25fs)	IMPDH1, LOC129999258 (Q25fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 193126	NM_000883.4(IMPDH1):c.66_72dup (p.Gln25fs)	IMPDH1, LOC129999258 (Q25fs)	Microsatellite (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 2900294	NM_000883.4(IMPDH1):c.66_72del (p.Ala23fs)	IMPDH1, LOC129999258 (A23fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 813046	NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro)	IMPDH1, LOC129999258 (R24P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1719207	NM_000883.4(IMPDH1):c.70C>T (p.Arg24Trp)	IMPDH1, LOC129999258 (R24W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491612	NM_000883.4(IMPDH1):c.66A>T (p.Gly22=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572597	NM_000883.4(IMPDH1):c.63C>T (p.Pro21=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966200	NM_000883.4(IMPDH1):c.52G>T (p.Val18Phe)	IMPDH1, LOC129999258 (V18F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060696	NM_000883.4(IMPDH1):c.31_52del (p.Gln11fs)	IMPDH1, LOC129999258 (Q11fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1397454	NM_000883.4(IMPDH1):c.50C>G (p.Ala17Gly)	LOC129999258, IMPDH1 (A17G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046608	NM_000883.4(IMPDH1):c.50C>T (p.Ala17Val)	LOC129999258, IMPDH1 (A17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1587599	NM_000883.4(IMPDH1):c.48C>T (p.Ala16=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195146	NM_000883.4(IMPDH1):c.39C>T (p.Gly13=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845814	NM_000883.4(IMPDH1):c.29T>G (p.Leu10Arg)	IMPDH1, LOC129999258 (L10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961282	NM_000883.4(IMPDH1):c.27_28delinsAA (p.Leu10Met)	IMPDH1, LOC129999258 (L10M)	Indel (missense variant)	not provided	GUncertain significance
Select item 1132143	NM_000883.4(IMPDH1):c.21A>G (p.Pro7=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866094	NM_000883.4(IMPDH1):c.19C>T (p.Pro7Ser)	IMPDH1, LOC129999258 (P7S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1591760	NM_000883.4(IMPDH1):c.12A>G (p.Pro4=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913557	NM_000883.4(IMPDH1):c.10C>T (p.Pro4Ser)	IMPDH1, LOC129999258 (P4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 908060	NM_000883.4(IMPDH1):c.-13C>T	IMPDH1, LOC129999258	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 908061	NM_000883.4(IMPDH1):c.-17T>C	IMPDH1, LOC129999258	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 358881	NM_000883.4(IMPDH1):c.-59G>A	IMPDH1, LOC129999258	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 11 +1 more	GUncertain significance
Select item 358882	NM_000883.4(IMPDH1):c.-69T>G	IMPDH1, LOC129999258	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 910016	NM_000883.4(IMPDH1):c.-73G>C	IMPDH1, LOC129999258	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 910017	NM_000883.4(IMPDH1):c.-77G>C	IMPDH1, LOC129999258	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance

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Items: 60