ClinVar for Gene (Select 1146) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023953	NM_005199.5(CHRNG):c.137_141del (p.Arg46fs)	CHRNG (R46fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3022751	NM_005199.5(CHRNG):c.624C>T (p.Ile208=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021679	NM_005199.5(CHRNG):c.605-5C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021095	NM_005199.5(CHRNG):c.1437C>T (p.Ala479=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3020579	NM_005199.5(CHRNG):c.921-13C>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019633	NM_005199.5(CHRNG):c.120C>T (p.Asn40=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019466	NM_005199.5(CHRNG):c.249C>T (p.Cys83=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018816	NM_005199.5(CHRNG):c.604+14A>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018372	NM_145702.4(TIGD1):c.*2578G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3017677	NM_005199.5(CHRNG):c.805+17G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016950	NM_005199.5(CHRNG):c.201G>A (p.Glu67=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016305	NM_005199.5(CHRNG):c.56-16C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3015988	NM_005199.5(CHRNG):c.806-11G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015901	NM_005199.5(CHRNG):c.605-23CCTG[3]	CHRNG	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 3015698	NM_145702.4(TIGD1):c.*3519T>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3013996	NM_005199.5(CHRNG):c.966T>C (p.Asn322=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013370	NM_005199.5(CHRNG):c.786C>T (p.Ile262=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010403	NM_005199.5(CHRNG):c.1506C>T (p.Ala502=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008944	NM_005199.5(CHRNG):c.969T>C (p.Ala323=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008476	NM_005199.5(CHRNG):c.55+12A>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007428	NM_005199.5(CHRNG):c.351-12C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006708	NM_005199.5(CHRNG):c.604+20T>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006583	NM_005199.5(CHRNG):c.195+15G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005922	NM_005199.5(CHRNG):c.240+19A>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004789	NM_005199.5(CHRNG):c.903G>A (p.Ala301=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002814	NM_005199.5(CHRNG):c.604+12C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001966	NM_005199.5(CHRNG):c.805+8G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001958	NM_005199.5(CHRNG):c.921-13C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001153	NM_005199.5(CHRNG):c.1296G>A (p.Lys432=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000755	NM_005199.5(CHRNG):c.132G>C (p.Ala44=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997931	NM_005199.5(CHRNG):c.312C>A (p.Ser104=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997713	NM_005199.5(CHRNG):c.805+1G>A	CHRNG	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2997679	NM_005199.5(CHRNG):c.124C>A (p.Arg42=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997436	NM_005199.5(CHRNG):c.240+9C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996857	NM_005199.5(CHRNG):c.492C>T (p.Cys164=)	CHRNG, LOC129935864	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993860	NM_005199.5(CHRNG):c.605-6_605-5insTGCCCGCCTGCC	CHRNG	Microsatellite (intron variant)	not provided	GBenign
Select item 2991290	NM_005199.5(CHRNG):c.672G>A (p.Gln224=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990760	NM_005199.5(CHRNG):c.617G>A (p.Trp206Ter)	CHRNG (W206*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2989017	NM_005199.5(CHRNG):c.517_520del (p.Tyr173fs)	CHRNG (Y173fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2988351	NM_005199.5(CHRNG):c.177C>A (p.Leu59=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988290	NM_005199.5(CHRNG):c.1260G>A (p.Pro420=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987022	NM_005199.5(CHRNG):c.453T>C (p.Ser151=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987014	NM_005199.5(CHRNG):c.196-7C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986528	NM_005199.5(CHRNG):c.477C>T (p.Phe159=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986442	NM_005199.5(CHRNG):c.991T>C (p.Leu331=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985795	NM_005199.5(CHRNG):c.615G>A (p.Glu205=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985056	NM_005199.5(CHRNG):c.774C>T (p.Val258=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983750	NM_005199.5(CHRNG):c.393C>T (p.Leu131=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983540	NM_005199.5(CHRNG):c.1155T>C (p.Thr385=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982950	NM_005199.5(CHRNG):c.920+2T>G	CHRNG	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2981211	NM_005199.5(CHRNG):c.506+14T>C	CHRNG, LOC129935864	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981209	NM_005199.5(CHRNG):c.21G>A (p.Pro7=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979245	NM_145702.4(TIGD1):c.*3187C>T	CHRNG, TIGD1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2976590	NM_145702.4(TIGD1):c.*2570G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2976182	NM_005199.5(CHRNG):c.348C>T (p.Asn116=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975748	NM_005199.5(CHRNG):c.806-15C>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974489	NM_005199.5(CHRNG):c.960C>G (p.Val320=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973304	NM_005199.5(CHRNG):c.654C>T (p.Asp218=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970840	NM_005199.5(CHRNG):c.1137G>A (p.Ser379=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967976	NM_005199.5(CHRNG):c.604+14A>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964062	NM_145702.4(TIGD1):c.*3513C>T	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2962757	NM_005199.5(CHRNG):c.24G>A (p.Leu8=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962543	NM_005199.5(CHRNG):c.1021C>T (p.Arg341Ter)	CHRNG (R341*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2961828	NM_005199.5(CHRNG):c.562C>T (p.Gln188Ter)	CHRNG (Q188*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2961644	NM_005199.5(CHRNG):c.1230G>C (p.Ala410=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960933	NM_005199.5(CHRNG):c.1242G>A (p.Glu414=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960097	NM_005199.5(CHRNG):c.273G>A (p.Pro91=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956553	NM_145702.4(TIGD1):c.*3185C>G	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2956041	NM_005199.5(CHRNG):c.1542C>A (p.Pro514=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2920438	NM_005199.5(CHRNG):c.366C>T (p.Phe122=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919325	NM_005199.5(CHRNG):c.1250-1G>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2915742	NM_005199.5(CHRNG):c.1059G>A (p.Gln353=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2912511	NM_145702.4(TIGD1):c.*3192T>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2909366	NM_005199.5(CHRNG):c.1503G>A (p.Pro501=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2909273	NM_005199.5(CHRNG):c.1305C>T (p.Ala435=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2908290	NM_005199.5(CHRNG):c.241-6C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903766	NM_005199.5(CHRNG):c.937C>T (p.Leu313=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896764	NM_005199.5(CHRNG):c.805+2T>C	CHRNG	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2892868	NM_005199.5(CHRNG):c.534_537dup (p.Leu180Ter)	CHRNG (L180*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2890488	NM_005199.5(CHRNG):c.412_431dup (p.Ile145fs)	CHRNG (I145fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2888484	NM_005199.5(CHRNG):c.174C>T (p.Thr58=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881182	NM_005199.5(CHRNG):c.1131C>T (p.Gly377=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879894	NM_005199.5(CHRNG):c.605-9T>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879208	NM_005199.5(CHRNG):c.1428C>T (p.Cys476=)	CHRNG, TIGD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2877296	NM_005199.5(CHRNG):c.888T>C (p.Pro296=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877098	NM_145702.4(TIGD1):c.*3511A>C	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2876733	NM_005199.5(CHRNG):c.805+13T>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874016	NM_005199.5(CHRNG):c.1035+19C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873694	NM_005199.5(CHRNG):c.180C>T (p.Thr60=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873650	NM_005199.5(CHRNG):c.279C>T (p.Asp93=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871674	NM_005199.5(CHRNG):c.459A>C (p.Ser153=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870874	NM_005199.5(CHRNG):c.81G>A (p.Glu27=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869333	NM_145702.4(TIGD1):c.*3344G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2869143	NM_005199.5(CHRNG):c.350+18G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868085	NM_005199.5(CHRNG):c.604+10A>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867745	NM_005199.5(CHRNG):c.570C>T (p.Ile190=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867613	NM_005199.5(CHRNG):c.241-11T>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867042	NM_005199.5(CHRNG):c.1092G>A (p.Pro364=)	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2863438	NM_005199.5(CHRNG):c.196-13C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862382	NM_005199.5(CHRNG):c.196-17C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign

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