1146[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	LOC126806566, LOC126806567 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	AGFG1, ALPG +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic
Select item 144230	GRCh38/hg38 2q37.1(chr2:231892041-232652305)x1	ALPG, ALPI +38 more	Copy number loss	See cases	GPathogenic
Select item 154539	GRCh38/hg38 2q37.1(chr2:232376206-232542668)x3	ALPG, ALPI +8 more	Copy number gain	See cases	GBenign
Select item 534541	NC_000002.11:g.(?_233390906)_(233410446_?)dup	CHRND, CHRNG +2 more	Duplication	Lethal multiple pterygium syndrome	GUncertain significance
Select item 334975	NM_000751.3(CHRND):c.*52A>G	CHRND, CHRNG	Single nucleotide variant (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive +4 more	GBenign/Likely benign
Select item 897730	NM_000751.3(CHRND):c.*365C>A	CHRND, CHRNG	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 334985	NM_000751.3(CHRND):c.*547G>C	CHRND, CHRNG	Single nucleotide variant (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive +4 more	GBenign/Likely benign
Select item 334991	NM_000751.3(CHRND):c.*885T>C	CHRND, CHRNG	Single nucleotide variant (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive +4 more	GBenign/Likely benign
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)	CHRNG-related condition +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

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