ClinVar for Gene (Select 5631) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3362122	NM_002764.4(PRPS1):c.659A>G (p.Asp220Gly)	PRPS1 (D16G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343741	NM_002764.4(PRPS1):c.914A>G (p.Asn305Ser)	PRPS1 (N101S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339058	NM_002764.4(PRPS1):c.700G>A (p.Asp234Asn)	PRPS1 (D234N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336935	NM_002764.4(PRPS1):c.284C>T (p.Ala95Val)	PRPS1 (A95V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3246496	NC_000023.10:g.(?_106456106)_(107464624_?)dup	ATG4A, COL4A6 +8 more	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3066161	NM_002764.4(PRPS1):c.575T>A (p.Ile192Asn)	PRPS1 (I192N)	Single nucleotide variant (5 prime UTR variant +1 more)	Hearing loss, X-linked 1	GLikely pathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3016857	NM_002764.4(PRPS1):c.54A>G (p.Lys18=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 3015392	NM_002764.4(PRPS1):c.248G>T (p.Ser83Ile)	PRPS1 (S83I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 3002165	NM_002764.4(PRPS1):c.594G>A (p.Lys198=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2999200	NM_002764.4(PRPS1):c.865-19T>C	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2991743	NM_002764.4(PRPS1):c.393T>G (p.Ala131=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2991012	NM_002764.4(PRPS1):c.530+15A>T	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2968114	NM_002764.4(PRPS1):c.405+7G>A	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2962288	NM_002764.4(PRPS1):c.778C>T (p.Arg260Cys)	PRPS1 (R260C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2959871	NM_002764.4(PRPS1):c.834G>A (p.Glu278=)	PRPS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2914615	NM_002764.4(PRPS1):c.333T>G (p.Leu111=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2906958	NM_002764.4(PRPS1):c.530+19T>G	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2891140	NM_002764.4(PRPS1):c.600T>C (p.Asn200=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2890827	NM_002764.4(PRPS1):c.519T>G (p.Gly173=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2880901	NM_002764.4(PRPS1):c.717T>G (p.Ala239=)	PRPS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2875332	NM_002764.4(PRPS1):c.39G>A (p.Gln13=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2865738	NM_002764.4(PRPS1):c.357A>C (p.Ala119=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2859076	NM_002764.4(PRPS1):c.612C>T (p.Arg204=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2858616	NM_002764.4(PRPS1):c.382G>C (p.Asp128His)	PRPS1 (D128H)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2856409	NM_002764.4(PRPS1):c.864+23del	PRPS1	Deletion (intron variant)	Charcot-Marie-Tooth Neuropathy X	GBenign
Select item 2854204	NM_002764.4(PRPS1):c.705-5T>A	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2850352	NM_002764.4(PRPS1):c.122+13T>C	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2826722	NM_002764.4(PRPS1):c.934C>T (p.Leu312=)	PRPS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2821409	NM_002764.4(PRPS1):c.406-14G>C	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2819014	NM_002764.4(PRPS1):c.646G>A (p.Ala216Thr)	PRPS1 (A216T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2813134	NM_002764.4(PRPS1):c.700_702del (p.Asp234del)	PRPS1 (D234del +1 more)	Deletion (inframe_deletion)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2806940	NM_002764.4(PRPS1):c.27C>T (p.Gly9=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2788692	NM_002764.4(PRPS1):c.519T>A (p.Gly173=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2781384	NM_002764.4(PRPS1):c.840G>A (p.Lys280=)	PRPS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2777893	NM_002764.4(PRPS1):c.753A>G (p.Gly251=)	PRPS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2770508	NM_002764.4(PRPS1):c.681C>T (p.Gly227=)	PRPS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2765331	NM_002764.4(PRPS1):c.530+14_530+17dup	PRPS1	Duplication (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2764615	NM_002764.4(PRPS1):c.122+17G>A	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2759310	NM_002764.4(PRPS1):c.672C>T (p.Asp224=)	PRPS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2756259	NM_002764.4(PRPS1):c.506C>T (p.Ser169Leu)	PRPS1 (S169L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2752263	NM_002764.4(PRPS1):c.307-14T>C	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2750312	NM_002764.4(PRPS1):c.688T>C (p.Cys230Arg)	PRPS1 (C230R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2750074	NM_002764.4(PRPS1):c.865-19T>G	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2748761	NM_002764.4(PRPS1):c.420C>A (p.Ile140=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2742909	NM_002764.4(PRPS1):c.120C>T (p.Thr40=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2733768	NM_002764.4(PRPS1):c.87G>A (p.Lys29=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2726885	NM_002764.4(PRPS1):c.264C>A (p.Val88=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2725595	NM_002764.4(PRPS1):c.705-9dup	PRPS1	Duplication (intron variant)	Charcot-Marie-Tooth Neuropathy X	GBenign
Select item 2711868	NM_002764.4(PRPS1):c.864+18G>C	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2710764	NM_002764.4(PRPS1):c.378C>T (p.Thr126=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2709849	NM_002764.4(PRPS1):c.530+19T>C	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2708008	NM_002764.4(PRPS1):c.531-11_531-10del	PRPS1	Microsatellite (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2707815	NM_002764.4(PRPS1):c.786C>T (p.Asn262=)	PRPS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2700090	NM_002764.4(PRPS1):c.228C>T (p.Ala76=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2693394	NM_002764.4(PRPS1):c.810A>C (p.Val270=)	PRPS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2693060	NM_002764.4(PRPS1):c.668C>T (p.Ala223Val)	PRPS1 (A223V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685000	GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3	ARL13A, ARMCX1 +80 more	Copy number gain	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2673252	NM_002764.4(PRPS1):c.*685C>T	PRPS1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2673251	NM_002764.4(PRPS1):c.74T>C (p.Leu25Pro)	PRPS1 (L25P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2578106	NM_002764.4(PRPS1):c.296A>G (p.Lys99Arg)	PRPS1 (K99R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2507052	NM_002764.4(PRPS1):c.752G>A (p.Gly251Glu)	PRPS1 (G251E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2504550	NM_002764.4(PRPS1):c.21C>A (p.Phe7Leu)	PRPS1 (F7L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2500350	NM_002764.4(PRPS1):c.755T>A (p.Ile252Asn)	PRPS1 (I252N +1 more)	Single nucleotide variant (missense variant)	Phosphoribosylpyrophosphate synthetase superactivity	GUncertain significance
Select item 2441795	NM_002764.4(PRPS1):c.179G>A (p.Cys60Tyr)	PRPS1 (C60Y)	Single nucleotide variant (missense variant +1 more)	Arts syndrome	GUncertain significance
Select item 2435262	NM_002764.4(PRPS1):c.292G>A (p.Asp98Asn)	PRPS1 (D98N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435261	NM_002764.4(PRPS1):c.118A>G (p.Thr40Ala)	PRPS1 (T40A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2424531	NC_000023.10:g.(?_106871859)_(106872000_?)dup	PRPS1	Duplication	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2424530	NC_000023.10:g.(?_106456106)_(106959200_?)dup	DNAAF6, FRMPD3 +2 more	Duplication	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2424529	NC_000023.10:g.(?_106046084)_(108868249_?)del	ATG4A, CLDN2 +19 more	Deletion	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2316537	NM_002764.4(PRPS1):c.721G>A (p.Ala241Thr)	PRPS1 (A241T +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 2231349	NM_002764.4(PRPS1):c.219G>A (p.Met73Ile)	PRPS1 (M73I)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 2194845	NM_002764.4(PRPS1):c.111C>T (p.Asn37=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2191343	NM_002764.4(PRPS1):c.624G>A (p.Val208=)	PRPS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2181888	NM_002764.4(PRPS1):c.499A>G (p.Ile167Val)	PRPS1 (I167V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2175343	NM_002764.4(PRPS1):c.405+14C>T	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2170185	NM_002764.4(PRPS1):c.531-15C>A	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2144699	NM_002764.4(PRPS1):c.405+13G>A	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2127445	NM_002764.4(PRPS1):c.796T>C (p.Phe266Leu)	PRPS1 (F266L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2126879	NM_002764.4(PRPS1):c.307-6A>G	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2124173	NM_002764.4(PRPS1):c.183C>A (p.Gly61=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2122144	NM_002764.4(PRPS1):c.570del (p.Ala190_Leu191insTer)	PRPS1	Deletion (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2122132	NM_002764.4(PRPS1):c.286C>T (p.Arg96Trp)	PRPS1 (R96W)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GConflicting classifications of pathogenicity
Select item 2118539	NM_002764.4(PRPS1):c.940A>T (p.Ser314Cys)	PRPS1 (S110C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2115600	NM_002764.4(PRPS1):c.758T>A (p.Phe253Tyr)	PRPS1 (F253Y +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2112633	NM_002764.4(PRPS1):c.366T>C (p.Asp122=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2107004	NM_002764.4(PRPS1):c.492C>T (p.Asn164=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2099250	NM_002764.4(PRPS1):c.827C>A (p.Pro276His)	PRPS1 (P276H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2092217	NM_002764.4(PRPS1):c.785A>G (p.Asn262Ser)	PRPS1 (N58S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2074795	NM_002764.4(PRPS1):c.269C>T (p.Pro90Leu)	PRPS1 (P90L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2065043	NM_002764.4(PRPS1):c.480T>C (p.Ser160=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2064049	NM_002764.4(PRPS1):c.63C>T (p.Asp21=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2040176	NM_002764.4(PRPS1):c.306+17A>T	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2034663	NM_002764.4(PRPS1):c.435G>A (p.Leu145=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign

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