Related gene-specific medical variations for Gene (Select 3717) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379846	NM_004972.4(JAK2):c.2488_2490delinsGTA (p.Leu830Val)	INSL6, JAK2 (L425V +2 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3379845	NM_004972.4(JAK2):c.2265T>A (p.Ser755Arg)	INSL6, JAK2 (S350R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3379844	NM_004972.4(JAK2):c.2033A>C (p.Asn678Thr)	INSL6, JAK2 (N273T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375294	NM_004972.4(JAK2):c.983T>C (p.Ile328Thr)	INSL6, JAK2 (I179T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3372394	NM_004972.4(JAK2):c.1721A>G (p.His574Arg)	INSL6, JAK2 (H169R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372004	NM_004972.4(JAK2):c.344G>C (p.Arg115Thr)	INSL6, JAK2 (R115T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3368200	NM_004972.4(JAK2):c.289C>T (p.Pro97Ser)	INSL6, JAK2 (P97S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3365384	NM_004972.4(JAK2):c.1326+1G>T	INSL6, JAK2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3354839	NM_004972.4(JAK2):c.2959G>A (p.Glu987Lys)	INSL6, JAK2 (E582K +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 3352699	NM_004972.4(JAK2):c.132C>T (p.Tyr44=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +2 more)	JAK2-related disorder	GLikely benign
Select item 3350891	NM_004972.4(JAK2):c.1279T>C (p.Cys427Arg)	INSL6, JAK2 (C22R +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 3344990	NM_004972.4(JAK2):c.3368T>G (p.Val1123Gly)	INSL6, JAK2 (V1123G +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 3344820	NM_004972.4(JAK2):c.1853G>C (p.Cys618Ser)	INSL6, JAK2 (C213S +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 3344025	NM_004972.4(JAK2):c.3236T>C (p.Ile1079Thr)	INSL6, JAK2 (I1079T +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 3287140	NM_004972.4(JAK2):c.872C>G (p.Thr291Ser)	INSL6, JAK2 (T142S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3287139	NM_004972.4(JAK2):c.996C>A (p.Asn332Lys)	INSL6, JAK2 (N183K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3287138	NM_004972.4(JAK2):c.3080C>G (p.Thr1027Arg)	INSL6, JAK2 (T878R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287137	NM_004972.4(JAK2):c.1244A>C (p.Lys415Thr)	INSL6, JAK2 (K415T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3245332	NC_000009.11:g.(?_5122984)_(5126791_?)dup	JAK2	Duplication	not provided	GUncertain significance
Select item 3245331	NC_000009.11:g.(?_4984530)_(5022233_?)dup	JAK2	Duplication	not provided	GUncertain significance
Select item 3245330	NC_000009.11:g.(?_5090426)_(5126791_?)del	JAK2	Deletion	not provided	GUncertain significance
Select item 3242123	NM_004972.4(JAK2):c.1340T>A (p.Ile447Asn)	INSL6, JAK2 (I298N +2 more)	Single nucleotide variant (missense variant +1 more)	Thrombocythemia 3	GUncertain significance
Select item 3234845	NM_004972.4(JAK2):c.1414A>G (p.Ser472Gly)	INSL6, JAK2 (S323G +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 3112151	NM_004972.4(JAK2):c.610A>G (p.Ile204Val)	INSL6, JAK2 (I55V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3112150	NM_004972.4(JAK2):c.3176C>T (p.Ala1059Val)	INSL6, JAK2 (A1059V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112149	NM_004972.4(JAK2):c.2718G>T (p.Gln906His)	INSL6, JAK2 (Q906H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112148	NM_004972.4(JAK2):c.2225C>G (p.Thr742Ser)	INSL6, JAK2 (T337S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112147	NM_004972.4(JAK2):c.1281C>G (p.Cys427Trp)	INSL6, JAK2 (C22W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064508	NM_004972.4(JAK2):c.1619_1627del (p.Ile540_Glu543delinsLys)	INSL6, JAK2	Deletion (inframe_indel +1 more)	Acquired polycythemia vera	GUncertain significance
Select item 3058705	NM_004972.4(JAK2):c.1014A>G (p.Glu338=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +2 more)	JAK2-related disorder	GLikely benign
Select item 3058353	NM_004972.4(JAK2):c.1436A>C (p.Asn479Thr)	INSL6, JAK2 (N330T +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 3055558	NM_004972.4(JAK2):c.1290G>A (p.Lys430=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	JAK2-related disorder	GLikely benign
Select item 3049436	NM_004972.4(JAK2):c.2803G>A (p.Gly935Arg)	INSL6, JAK2 (G530R +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 3046983	NM_004972.4(JAK2):c.2628G>A (p.Gly876=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	JAK2-related disorder	GLikely benign
Select item 3046234	NM_004972.4(JAK2):c.364C>T (p.Arg122Cys)	INSL6, JAK2 (R122C)	Single nucleotide variant (missense variant +2 more)	JAK2-related disorder	GUncertain significance
Select item 3036432	NM_004972.4(JAK2):c.3262T>C (p.Leu1088=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	JAK2-related disorder	GLikely benign
Select item 3035672	NM_004972.4(JAK2):c.2015G>T (p.Gly672Val)	INSL6, JAK2 (G267V +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 3032403	NM_004972.4(JAK2):c.2420G>A (p.Ser807Asn)	INSL6, JAK2 (S402N +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 3030854	NM_004972.4(JAK2):c.1266G>A (p.Leu422=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	JAK2-related disorder	GLikely benign
Select item 3023825	NM_004972.4(JAK2):c.2434+18C>A	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3023669	NM_004972.4(JAK2):c.831T>G (p.Ser277Arg)	INSL6, JAK2 (S128R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3021348	NM_004972.4(JAK2):c.1881G>A (p.Glu627=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3020798	NM_004972.4(JAK2):c.1530A>G (p.Leu510=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018418	NM_004972.4(JAK2):c.1389C>T (p.Asn463=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3014192	NM_004972.4(JAK2):c.496A>G (p.Ile166Val)	INSL6, JAK2 (I17V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3008416	NM_004972.4(JAK2):c.302T>C (p.Val101Ala)	INSL6, JAK2 (V101A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3004253	NM_004972.4(JAK2):c.1383G>A (p.Glu461=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999271	NM_004972.4(JAK2):c.1563A>C (p.Pro521=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997981	NM_004972.4(JAK2):c.1326+15C>G	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997288	NM_004972.4(JAK2):c.490G>A (p.Gly164Arg)	INSL6, JAK2 (G15R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2996711	NM_004972.4(JAK2):c.1075T>C (p.Leu359=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2996503	NM_004972.4(JAK2):c.188T>C (p.Val63Ala)	INSL6, JAK2 (V63A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2992308	NM_004972.4(JAK2):c.2069G>A (p.Gly690Glu)	INSL6, JAK2 (G285E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2987374	NM_004972.4(JAK2):c.2435-14C>A	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983135	NM_004972.4(JAK2):c.2961G>C (p.Glu987Asp)	INSL6, JAK2 (E838D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2980771	NM_004972.4(JAK2):c.3168T>C (p.Ser1056=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978833	NM_004972.4(JAK2):c.1587T>C (p.Pro529=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977497	NM_004972.4(JAK2):c.700C>T (p.Arg234Cys)	INSL6, JAK2 (R234C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2976400	NM_004972.4(JAK2):c.1327-3C>T	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2976235	NM_004972.4(JAK2):c.2267C>T (p.Ala756Val)	INSL6, JAK2 (A607V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975809	NM_004972.4(JAK2):c.3076C>A (p.Leu1026Met)	INSL6, JAK2 (L1026M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974511	NM_004972.4(JAK2):c.2431C>A (p.Pro811Thr)	INSL6, JAK2 (P662T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974400	NM_004972.4(JAK2):c.1865-19T>A	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973779	NM_004972.4(JAK2):c.701G>A (p.Arg234His)	INSL6, JAK2 (R234H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2972445	NM_004972.4(JAK2):c.3291+16dup	INSL6, JAK2	Duplication (intron variant)	not provided	GBenign
Select item 2971303	NM_004972.4(JAK2):c.1215-16T>G	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968488	NM_004972.4(JAK2):c.1705G>T (p.Asp569Tyr)	INSL6, JAK2 (D420Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2965541	NM_004972.4(JAK2):c.2762-13T>A	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961141	NM_004972.4(JAK2):c.1993-15G>A	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2960183	NM_004972.4(JAK2):c.3158A>G (p.Lys1053Arg)	INSL6, JAK2 (K1053R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959552	NM_004972.4(JAK2):c.2572-16G>A	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958894	NM_004972.4(JAK2):c.2599C>T (p.Arg867Trp)	INSL6, JAK2 (R462W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance OUncertain significance
Select item 2957583	NM_004972.4(JAK2):c.2435-3C>T	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2956626	NM_004972.4(JAK2):c.3292A>G (p.Ile1098Val)	INSL6, JAK2 (I1098V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956116	NM_004972.4(JAK2):c.614+5T>G	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2955934	NM_004972.4(JAK2):c.3060-9T>C	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920266	NM_004972.4(JAK2):c.592C>T (p.Leu198=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2918974	NM_004972.4(JAK2):c.1187T>C (p.Ile396Thr)	INSL6, JAK2 (I396T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2913779	NM_004972.4(JAK2):c.1541C>T (p.Thr514Met)	INSL6, JAK2 (T109M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2910225	NM_004972.4(JAK2):c.1004G>A (p.Gly335Asp)	JAK2, INSL6 (G186D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2909352	NM_004972.4(JAK2):c.1061T>C (p.Ile354Thr)	INSL6, JAK2 (I205T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2904059	NM_004972.4(JAK2):c.1656C>A (p.Gly552=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901513	NM_004972.4(JAK2):c.350+8C>G	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900779	NM_004972.4(JAK2):c.55A>G (p.Ile19Val)	INSL6, JAK2 (I19V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2899868	NM_004972.4(JAK2):c.2886+1_2886+27dup	INSL6, JAK2	Duplication (splice donor variant)	not provided	GLikely benign
Select item 2898302	NM_004972.4(JAK2):c.759G>A (p.Lys253=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2895775	NM_004972.4(JAK2):c.1738T>C (p.Leu580=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894352	NM_004972.4(JAK2):c.2196G>C (p.Leu732Phe)	INSL6, JAK2 (L327F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2890275	NM_004972.4(JAK2):c.3337C>T (p.Arg1113Cys)	INSL6, JAK2 (R1113C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2889471	NM_004972.4(JAK2):c.38G>T (p.Gly13Val)	INSL6, JAK2 (G13V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2885163	NM_004972.4(JAK2):c.1095C>T (p.Phe365=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2884610	NM_004972.4(JAK2):c.1642-4G>A	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881033	NM_004972.4(JAK2):c.1428T>A (p.Asp476Glu)	INSL6, JAK2 (D327E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880719	NM_004972.4(JAK2):c.1828G>C (p.Val610Leu)	INSL6, JAK2 (V205L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2875942	NM_004972.4(JAK2):c.226G>T (p.Gly76Cys)	INSL6, JAK2 (G76C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2873065	NM_004972.4(JAK2):c.2761+11C>T	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872775	NM_004972.4(JAK2):c.2883C>T (p.Cys961=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872688	NM_004972.4(JAK2):c.836C>T (p.Pro279Leu)	INSL6, JAK2 (P130L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2869848	NM_004972.4(JAK2):c.351-15T>C	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867937	NM_004972.4(JAK2):c.86C>T (p.Ala29Val)	INSL6, JAK2 (A29V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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