ClinVar for Gene (Select 8443) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362615	NM_014236.4(GNPAT):c.2010del (p.Pro671fs)	GNPAT (P610fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 3257091	NM_014236.4(GNPAT):c.705T>C (p.Tyr235=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3241719	NM_014236.4(GNPAT):c.290_291del (p.Asp97fs)	GNPAT (D36fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 3241718	NM_014236.4(GNPAT):c.544delinsTT (p.Val182fs)	GNPAT (V121fs +1 more)	Indel (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 3241717	NM_014236.4(GNPAT):c.805A>T (p.Lys269Ter)	GNPAT (K208* +1 more)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 3241716	NM_014236.4(GNPAT):c.1712del (p.Gly571fs)	GNPAT (G510fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 3241715	NM_014236.4(GNPAT):c.256A>T (p.Lys86Ter)	GNPAT (K86*)	Single nucleotide variant (nonsense +1 more)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 3241714	NM_014236.4(GNPAT):c.876_877del (p.Tyr293fs)	GNPAT (Y232fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 3100674	NM_014236.4(GNPAT):c.724C>G (p.Leu242Val)	GNPAT (L181V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100673	NM_014236.4(GNPAT):c.652C>G (p.Leu218Val)	GNPAT (L157V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100672	NM_014236.4(GNPAT):c.392A>C (p.Lys131Thr)	GNPAT (K70T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100671	NM_014236.4(GNPAT):c.1751G>A (p.Cys584Tyr)	GNPAT (C523Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100669	NM_014236.4(GNPAT):c.1426C>T (p.Leu476Phe)	GNPAT (L415F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100668	NM_014236.4(GNPAT):c.1200G>A (p.Met400Ile)	GNPAT (M339I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100667	NM_014236.4(GNPAT):c.1068G>C (p.Gln356His)	GNPAT (Q356H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100666	NM_014236.4(GNPAT):c.1056A>G (p.Arg352=)	GNPAT	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3023489	NM_014236.4(GNPAT):c.873T>G (p.Thr291=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020949	NM_014236.4(GNPAT):c.708T>C (p.Ala236=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020942	NM_014236.4(GNPAT):c.1321C>T (p.Leu441=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019109	NM_014236.4(GNPAT):c.925-18_925-17del	GNPAT	Deletion (intron variant)	not provided	GLikely benign
Select item 3017441	NM_014236.4(GNPAT):c.1398T>C (p.Asp466=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016479	NM_014236.4(GNPAT):c.1843+9C>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016181	NM_014236.4(GNPAT):c.1881G>T (p.Val627=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014882	NM_014236.4(GNPAT):c.624C>T (p.Phe208=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014844	NM_014236.4(GNPAT):c.30T>C (p.Tyr10=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012275	NM_014236.4(GNPAT):c.603A>G (p.Leu201=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010116	NM_014236.4(GNPAT):c.604C>T (p.Arg202Ter)	GNPAT (R141* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3009218	NM_014236.4(GNPAT):c.1305C>T (p.Val435=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002826	NM_014236.4(GNPAT):c.1821C>T (p.Phe607=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002419	NM_014236.4(GNPAT):c.925-18C>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000635	NM_014236.4(GNPAT):c.996G>T (p.Val332=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997287	NM_014236.4(GNPAT):c.1059C>T (p.Tyr353=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996203	NM_014236.4(GNPAT):c.423A>G (p.Glu141=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995508	NM_014236.4(GNPAT):c.1055+18A>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995344	NM_014236.4(GNPAT):c.1425C>T (p.Leu475=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994417	NM_014236.4(GNPAT):c.1597C>T (p.Leu533=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994164	NM_014236.4(GNPAT):c.180T>C (p.Tyr60=)	GNPAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994080	NM_014236.4(GNPAT):c.1125T>G (p.Leu375=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989313	NM_014236.4(GNPAT):c.1395C>G (p.Val465=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988191	NM_014236.4(GNPAT):c.441A>G (p.Leu147=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987149	NM_014236.4(GNPAT):c.1523-14G>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984030	NM_014236.4(GNPAT):c.1522+15T>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982648	NM_014236.4(GNPAT):c.1055+10G>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980101	NM_014236.4(GNPAT):c.925-18C>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975755	NM_014236.4(GNPAT):c.666A>G (p.Val222=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975256	NM_014236.4(GNPAT):c.1494A>G (p.Ala498=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975210	NM_014236.4(GNPAT):c.925-5A>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974772	NM_014236.4(GNPAT):c.1744-20A>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971805	NM_014236.4(GNPAT):c.897G>A (p.Gly299=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969791	NM_014236.4(GNPAT):c.78+19G>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967982	NM_014236.4(GNPAT):c.534T>C (p.Tyr178=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967280	NM_014236.4(GNPAT):c.63C>T (p.Val21=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964443	NM_014236.4(GNPAT):c.1743+16A>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959109	NM_014236.4(GNPAT):c.925-6T>C	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955521	NM_014236.4(GNPAT):c.921A>C (p.Thr307=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955123	NM_014236.4(GNPAT):c.2022A>C (p.Lys674Asn)	GNPAT (K613N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2954751	NM_014236.4(GNPAT):c.1110C>T (p.Ala370=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954696	NM_014236.4(GNPAT):c.159A>G (p.Lys53=)	GNPAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2920511	NM_014236.4(GNPAT):c.1092C>T (p.Ala364=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920136	NM_014236.4(GNPAT):c.569-16A>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919800	NM_014236.4(GNPAT):c.387A>G (p.Val129=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916574	NM_014236.4(GNPAT):c.42C>G (p.Gly14=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916063	NM_014236.4(GNPAT):c.772+11A>C	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916062	NM_014236.4(GNPAT):c.697-10C>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915364	NM_014236.4(GNPAT):c.78+10dup	GNPAT	Duplication (intron variant)	not provided	GLikely benign
Select item 2914654	NM_014236.4(GNPAT):c.612G>A (p.Ser204=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914032	NM_014236.4(GNPAT):c.768A>G (p.Lys256=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913058	NM_014236.4(GNPAT):c.99T>C (p.Asp33=)	GNPAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2912942	NM_014236.4(GNPAT):c.1937+15A>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910781	NM_014236.4(GNPAT):c.1844-12C>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904035	NM_014236.4(GNPAT):c.1077T>G (p.Ser359=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902955	NM_014236.4(GNPAT):c.66G>A (p.Val22=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900244	NM_014236.4(GNPAT):c.1992A>G (p.Glu664=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900201	NM_014236.4(GNPAT):c.772+13A>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899665	NM_014236.4(GNPAT):c.568+25del	GNPAT	Deletion (intron variant)	not provided	GBenign
Select item 2898555	NM_014236.4(GNPAT):c.1665C>T (p.Asp555=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897736	NM_014236.4(GNPAT):c.1602+14A>C	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897313	NM_014236.4(GNPAT):c.1659G>A (p.Thr553=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896897	NM_014236.4(GNPAT):c.2000-19T>C	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895253	NM_014236.4(GNPAT):c.2000-8C>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895229	NM_014236.4(GNPAT):c.1458C>T (p.Leu486=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894001	NM_014236.4(GNPAT):c.981C>T (p.Tyr327=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892146	NM_014236.4(GNPAT):c.825C>T (p.Thr275=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886704	NM_014236.4(GNPAT):c.697-2A>G	GNPAT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2885028	NM_014236.4(GNPAT):c.697-19G>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883865	NM_014236.4(GNPAT):c.990T>C (p.Asp330=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878896	NM_014236.4(GNPAT):c.262-17T>C	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877083	NM_014236.4(GNPAT):c.261+11C>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876969	NM_014236.4(GNPAT):c.2000-13T>C	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876885	NM_014236.4(GNPAT):c.78+7G>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875002	NM_014236.4(GNPAT):c.864G>A (p.Leu288=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874985	NM_014236.4(GNPAT):c.568+25dup	GNPAT	Duplication (intron variant)	not provided	GBenign
Select item 2873559	NM_014236.4(GNPAT):c.1938-12A>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872271	NM_014236.4(GNPAT):c.480T>C (p.Pro160=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870576	NM_014236.4(GNPAT):c.1843+19G>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870536	NM_014236.4(GNPAT):c.773-11G>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869526	NM_014236.4(GNPAT):c.1236A>G (p.Leu412=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866838	NM_014236.4(GNPAT):c.261+12C>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862082	NM_014236.4(GNPAT):c.439-1G>A	GNPAT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2859033	NM_014236.4(GNPAT):c.472C>T (p.Leu158=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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