ClinVar for Gene (Select 1146) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378293	NM_005199.5(CHRNG):c.323G>C (p.Trp108Ser)	CHRNG (W108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358091	NM_005199.5(CHRNG):c.382T>C (p.Cys128Arg)	CHRNG (C128R)	Single nucleotide variant (missense variant)	CHRNG-related disorder	GUncertain significance
Select item 3341772	NM_005199.5(CHRNG):c.681C>A (p.Gly227=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3267198	NM_005199.5(CHRNG):c.263G>A (p.Arg88His)	CHRNG (R88H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267197	NM_005199.5(CHRNG):c.124C>T (p.Arg42Trp)	CHRNG (R42W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267196	NM_005199.5(CHRNG):c.1094C>G (p.Ala365Gly)	CHRNG, TIGD1 (A365G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267194	NM_005199.5(CHRNG):c.262C>T (p.Arg88Cys)	CHRNG (R88C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267193	NM_005199.5(CHRNG):c.826G>A (p.Val276Ile)	CHRNG (V276I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247532	NC_000002.11:g.(?_233404745)_(233414968_?)del	CHRNG, TIGD1	Deletion	not provided	GPathogenic
Select item 3247531	NC_000002.11:g.(?_233402587)_(233407600_?)del	CHRNG	Deletion	not provided	GPathogenic
Select item 3247276	NC_000002.11:g.(?_233320910)_(233410426_?)dup	ALPI, CHRND +3 more	Duplication	Lethal multiple pterygium syndrome	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3144692	NM_005199.5(CHRNG):c.961G>A (p.Val321Met)	CHRNG (V321M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144691	NM_005199.5(CHRNG):c.754T>C (p.Cys252Arg)	CHRNG (C252R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144689	NM_005199.5(CHRNG):c.272C>G (p.Pro91Arg)	CHRNG (P91R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144688	NM_005199.5(CHRNG):c.20C>T (p.Pro7Leu)	CHRNG (P7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3144687	NM_005199.5(CHRNG):c.1420C>T (p.Arg474Cys)	CHRNG, TIGD1 (R474C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144686	NM_005199.5(CHRNG):c.1355G>A (p.Arg452Gln)	CHRNG, TIGD1 (R452Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144685	NM_005199.5(CHRNG):c.1297C>G (p.Gln433Glu)	CHRNG, TIGD1 (Q433E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144684	NM_005199.5(CHRNG):c.1193T>A (p.Leu398His)	CHRNG, TIGD1 (L398H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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_005199.5(CHRNG):c.1381-14C>T	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	GLikely benign
Select item 3015698	NM_005199.5(CHRNG):c.1249+8A>C	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_005199.5(CHRNG):c.1380+18G>A	CHRNG, TIGD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2976590	NM_005199.5(CHRNG):c.1381-6C>T	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_005199.5(CHRNG):c.1249+14G>A	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_005199.5(CHRNG):c.1380+20G>C	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_005199.5(CHRNG):c.1380+13A>G	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

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