CHRNG[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 333

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1220112	NC_000002.12:g.232539428C>T	CHRNG	Single nucleotide variant	not provided	GLikely benign
Select item 1194407	NC_000002.12:g.232539565A>T	CHRNG	Single nucleotide variant	not provided	GLikely benign
Select item 1293032	NC_000002.12:g.232539584C>G	CHRNG	Single nucleotide variant	not provided	GBenign
Select item 1296039	NC_000002.12:g.232539628CTGGCTGGG[3]	CHRNG	Microsatellite	not provided	GBenign
Select item 894820	NM_005199.5(CHRNG):c.5A>T (p.His2Leu)	CHRNG (H2L)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 2782669	NM_005199.5(CHRNG):c.6T>C (p.His2=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2733568	NM_005199.5(CHRNG):c.9G>C (p.Gly3=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697813	NM_005199.5(CHRNG):c.12C>A (p.Gly4=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 18336	NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter)	CHRNG (Q5*)	Single nucleotide variant (nonsense)	Arthrogryposis-like hand anomaly +2 more	GLikely pathogenic
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 2981209	NM_005199.5(CHRNG):c.21G>A (p.Pro7=)	CHRNG	Single nucleotide variant (synonymous variant)	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 2719687	NM_005199.5(CHRNG):c.30C>T (p.Leu10=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725677	NM_005199.5(CHRNG):c.33G>A (p.Leu11=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 191154	NM_005199.5(CHRNG):c.55+1G>A	CHRNG	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2506381	NM_005199.5(CHRNG):c.55+5G>A	CHRNG	Single nucleotide variant (intron variant)	Autosomal recessive multiple pterygium syndrome	GPathogenic
Select item 2727706	NM_005199.5(CHRNG):c.55+7C>G	CHRNG	Single nucleotide variant (intron 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 2743057	NM_005199.5(CHRNG):c.55+13G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290181	NM_005199.5(CHRNG):c.55+78G>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2724604	NM_005199.5(CHRNG):c.56-20C>G	CHRNG	Single nucleotide variant (intron 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 2852013	NM_005199.5(CHRNG):c.56-15G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808368	NM_005199.5(CHRNG):c.56-13C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2750490	NM_005199.5(CHRNG):c.56-9C>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2506380	NM_005199.5(CHRNG):c.56-2A>G	CHRNG	Single nucleotide variant (splice acceptor variant)	Autosomal recessive multiple pterygium syndrome	GPathogenic
Select item 1322085	NM_005199.5(CHRNG):c.56-1G>A	CHRNG	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 334998	NM_005199.5(CHRNG):c.57G>C (p.Gly19=)	CHRNG	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2251826	NM_005199.5(CHRNG):c.62A>G (p.Gln21Arg)	CHRNG (Q21R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2748347	NM_005199.5(CHRNG):c.67C>A (p.Arg23=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2298104	NM_005199.5(CHRNG):c.67C>T (p.Arg23Trp)	CHRNG (R23W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2769891	NM_005199.5(CHRNG):c.69G>A (p.Arg23=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 706744	NM_005199.5(CHRNG):c.72C>T (p.Asn24=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2595983	NM_005199.5(CHRNG):c.74A>T (p.Gln25Leu)	CHRNG (Q25L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2870874	NM_005199.5(CHRNG):c.81G>A (p.Glu27=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 896266	NM_005199.5(CHRNG):c.82C>T (p.Arg28Cys)	CHRNG (R28C)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1174943	NM_005199.5(CHRNG):c.86T>A (p.Leu29Gln)	CHRNG (L29Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729310	NM_005199.5(CHRNG):c.90C>T (p.Leu30=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2511656	NM_005199.5(CHRNG):c.98T>C (p.Leu33Pro)	CHRNG (L33P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2850195	NM_005199.5(CHRNG):c.103C>T (p.Gln35Ter)	CHRNG (Q35*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2755165	NM_005199.5(CHRNG):c.111C>T (p.Tyr37=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 195239	NM_005199.5(CHRNG):c.117dup (p.Asn40fs)	CHRNG (N40fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 3019633	NM_005199.5(CHRNG):c.120C>T (p.Asn40=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997679	NM_005199.5(CHRNG):c.124C>A (p.Arg42=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 376837	NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)	CHRNG (R42Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 334999	NM_005199.5(CHRNG):c.129C>T (p.Pro43=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 423846	NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr)	CHRNG (A44T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2514730	NM_005199.5(CHRNG):c.131C>T (p.Ala44Val)	CHRNG (A44V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3000755	NM_005199.5(CHRNG):c.132G>C (p.Ala44=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 897876	NM_005199.5(CHRNG):c.132G>A (p.Ala44=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3023953	NM_005199.5(CHRNG):c.137_141del (p.Arg46fs)	CHRNG (R46fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 18341	NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter)	CHRNG (R46*)	Single nucleotide variant (nonsense)	Lethal multiple pterygium syndrome +2 more	GPathogenic
Select item 1031515	NM_005199.5(CHRNG):c.137G>A (p.Arg46Gln)	CHRNG (R46Q)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome	GUncertain significance
Select item 259665	NM_005199.5(CHRNG):c.144G>A (p.Ser48=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2822318	NM_005199.5(CHRNG):c.147T>C (p.Asp49=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735681	NM_005199.5(CHRNG):c.150G>A (p.Val50=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 897877	NM_005199.5(CHRNG):c.167A>C (p.Lys56Thr)	CHRNG (K56T)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 2888484	NM_005199.5(CHRNG):c.174C>T (p.Thr58=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988351	NM_005199.5(CHRNG):c.177C>A (p.Leu59=)	CHRNG	Single nucleotide variant (synonymous 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 2349817	NM_005199.5(CHRNG):c.183C>A (p.Asn61Lys)	CHRNG (N61K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708855	NM_005199.5(CHRNG):c.194T>C (p.Leu65Pro)	CHRNG (L65P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849232	NM_005199.5(CHRNG):c.195+7C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 784774	NM_005199.5(CHRNG):c.195+8G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800681	NM_005199.5(CHRNG):c.195+12G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 897878	NM_005199.5(CHRNG):c.195+14C>T	CHRNG	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3006583	NM_005199.5(CHRNG):c.195+15G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755761	NM_005199.5(CHRNG):c.195+17A>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327696	NM_005199.5(CHRNG):c.195+19G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2727991	NM_005199.5(CHRNG):c.196-20C>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
Select item 2863438	NM_005199.5(CHRNG):c.196-13C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712504	NM_005199.5(CHRNG):c.196-9C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 335000	NM_005199.5(CHRNG):c.196-9C>T	CHRNG	Single nucleotide variant (intron variant)	Autosomal recessive multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2987014	NM_005199.5(CHRNG):c.196-7C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702516	NM_005199.5(CHRNG):c.198C>T (p.Asn66=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1331443	NM_005199.5(CHRNG):c.199G>A (p.Glu67Lys)	CHRNG (E67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3016950	NM_005199.5(CHRNG):c.201G>A (p.Glu67=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 548021	NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)	CHRNG (R68*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 2258738	NM_005199.5(CHRNG):c.203G>A (p.Arg68Gln)	CHRNG (R68Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2816197	NM_005199.5(CHRNG):c.207G>A (p.Glu69=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2440069	NM_005199.5(CHRNG):c.224A>G (p.Asn75Ser)	CHRNG (N75S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787718	NM_005199.5(CHRNG):c.225T>C (p.Asn75=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 899018	NM_005199.5(CHRNG):c.234A>T (p.Ile78=)	CHRNG	Single nucleotide variant (synonymous variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 899019	NM_005199.5(CHRNG):c.239T>C (p.Met80Thr)	CHRNG (M80T)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome +1 more	GUncertain significance
Select item 1320054	NM_005199.5(CHRNG):c.240+1del	CHRNG	Deletion (splice donor variant)	Lethal multiple pterygium syndrome	GPathogenic
Select item 2748044	NM_005199.5(CHRNG):c.240+2T>C	CHRNG	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2997436	NM_005199.5(CHRNG):c.240+9C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708974	NM_005199.5(CHRNG):c.240+11A>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746482	NM_005199.5(CHRNG):c.240+14del	CHRNG	Deletion (intron variant)	not provided	GLikely benign
Select item 2729673	NM_005199.5(CHRNG):c.240+13C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728060	NM_005199.5(CHRNG):c.240+13C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859760	NM_005199.5(CHRNG):c.240+14C>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850092	NM_005199.5(CHRNG):c.240+17C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796065	NM_005199.5(CHRNG):c.240+17C>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 2829705	NM_005199.5(CHRNG):c.241-20A>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796723	NM_005199.5(CHRNG):c.241-13C>A	CHRNG	Single nucleotide variant (intron 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 2908290	NM_005199.5(CHRNG):c.241-6C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 4