4744[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 59075	GRCh38/hg38 22q12.1-12.2(chr22:28856144-29506277)x1	AP1B1, C22orf31 +34 more	Copy number loss	See cases	GPathogenic
Select item 57489	GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3	AP1B1, ASCC2 +28 more	Copy number gain	See cases	GUncertain significance
Select item 1712230	NM_021076.3(NEFH):c.-65G>C	NEFH	Single nucleotide variant	not provided	GLikely benign
Select item 2446273	NM_021076.4(NEFH):c.-3G>A	NEFH	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2683562	NM_021076.4(NEFH):c.1A>C (p.Met1Leu)	NEFH (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2865451	NM_021076.4(NEFH):c.2T>C (p.Met1Thr)	NEFH (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1424384	NM_021076.4(NEFH):c.4A>G (p.Met2Val)	NEFH (M2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901194	NM_021076.4(NEFH):c.12C>T (p.Phe4=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1773983	NM_021076.4(NEFH):c.14G>C (p.Gly5Ala)	NEFH (G5A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1934642	NM_021076.4(NEFH):c.15C>T (p.Gly5=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1348052	NM_021076.4(NEFH):c.20C>A (p.Ala7Glu)	NEFH (A7E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774538	NM_021076.4(NEFH):c.21G>A (p.Ala7=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1033975	NM_021076.4(NEFH):c.25G>C (p.Ala9Pro)	NEFH (A9P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2CC	GUncertain significance
Select item 2653045	NM_021076.4(NEFH):c.27G>A (p.Ala9=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969233	NM_021076.4(NEFH):c.33G>T (p.Leu11=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815174	NM_021076.4(NEFH):c.34G>A (p.Gly12Ser)	NEFH (G12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1733074	NM_021076.4(NEFH):c.35G>A (p.Gly12Asp)	NEFH (G12D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2416181	NM_021076.4(NEFH):c.36C>A (p.Gly12=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878329	NM_021076.4(NEFH):c.41dup (p.Phe15fs)	NEFH (F15fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1385694	NM_021076.4(NEFH):c.38C>T (p.Ala13Val)	NEFH (A13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832224	NM_021076.4(NEFH):c.41C>G (p.Pro14Arg)	NEFH (P14R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004168	NM_021076.4(NEFH):c.42G>A (p.Pro14=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3191035	NM_021076.4(NEFH):c.47C>A (p.Ala16Glu)	NEFH (A16E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2173704	NM_021076.4(NEFH):c.50C>T (p.Pro17Leu)	NEFH (P17L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2095013	NM_021076.4(NEFH):c.60C>G (p.Gly20=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912641	NM_021076.4(NEFH):c.61G>A (p.Gly21Ser)	NEFH (G21S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367148	NM_021076.4(NEFH):c.62G>A (p.Gly21Asp)	NEFH (G21D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715443	NM_021076.4(NEFH):c.65G>A (p.Gly22Asp)	NEFH (G22D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715124	NM_021076.4(NEFH):c.67A>T (p.Ser23Cys)	NEFH (S23C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373217	NM_021076.4(NEFH):c.67A>G (p.Ser23Gly)	NEFH (S23G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492529	NM_021076.4(NEFH):c.70C>T (p.Leu24Phe)	NEFH (L24F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969296	NM_021076.4(NEFH):c.72C>A (p.Leu24=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942032	NM_021076.4(NEFH):c.76T>C (p.Tyr26His)	NEFH (Y26H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861405	NM_021076.4(NEFH):c.78C>T (p.Tyr26=)	NEFH	Single nucleotide variant (synonymous variant)	NEFH-related disorder +1 more	GLikely benign
Select item 1632705	NM_021076.4(NEFH):c.81G>A (p.Ala27=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1638780	NM_021076.4(NEFH):c.84A>G (p.Leu28=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427349	NM_021076.4(NEFH):c.85G>T (p.Ala29Ser)	NEFH (A29S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2256585	NM_021076.4(NEFH):c.89G>A (p.Arg30Gln)	NEFH (R30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365947	NM_021076.4(NEFH):c.94G>C (p.Gly32Arg)	NEFH (G32R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1952389	NM_021076.4(NEFH):c.105C>G (p.Gly35=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877841	NM_021076.4(NEFH):c.106G>A (p.Gly36Arg)	NEFH (G36R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509590	NM_021076.4(NEFH):c.107G>A (p.Gly36Glu)	NEFH (G36E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995789	NM_021076.4(NEFH):c.117C>A (p.Ser39=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119403	NM_021076.4(NEFH):c.117C>T (p.Ser39=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466713	NM_021076.4(NEFH):c.119C>T (p.Ala40Val)	NEFH (A40V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957103	NM_021076.4(NEFH):c.122C>T (p.Ala41Val)	NEFH (A41V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1250865	NM_021076.4(NEFH):c.123T>C (p.Ala41=)	NEFH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1938890	NM_021076.4(NEFH):c.124G>A (p.Gly42Ser)	NEFH (G42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357812	NM_021076.4(NEFH):c.127T>G (p.Ser43Ala)	NEFH (S43A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420250	NM_021076.4(NEFH):c.136G>T (p.Gly46Cys)	NEFH (G46C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485671	NM_021076.4(NEFH):c.136G>C (p.Gly46Arg)	NEFH (G46R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990276	NM_021076.4(NEFH):c.138C>T (p.Gly46=)	NEFH	Single nucleotide variant (synonymous variant)	NEFH-related disorder +1 more	GLikely benign
Select item 809341	NM_021076.4(NEFH):c.141C>T (p.Phe47=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1715126	NM_021076.4(NEFH):c.148T>C (p.Trp50Arg)	NEFH (W50R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1577526	NM_021076.4(NEFH):c.153A>G (p.Thr51=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2876439	NM_021076.4(NEFH):c.155G>A (p.Arg52Gln)	NEFH (R52Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167837	NM_021076.4(NEFH):c.158C>T (p.Thr53Met)	NEFH (T53M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463145	NM_021076.4(NEFH):c.158C>A (p.Thr53Lys)	NEFH (T53K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999265	NM_021076.4(NEFH):c.161C>T (p.Ser54Phe)	NEFH (S54F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071138	NM_021076.4(NEFH):c.162C>T (p.Ser54=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1777018	NM_021076.4(NEFH):c.163G>C (p.Val55Leu)	NEFH (V55L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1908302	NM_021076.4(NEFH):c.165G>A (p.Val55=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2314976	NM_021076.4(NEFH):c.170C>G (p.Ser57Cys)	NEFH (S57C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2901713	NM_021076.4(NEFH):c.172G>T (p.Val58Leu)	NEFH (V58L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629203	NM_021076.4(NEFH):c.172G>C (p.Val58Leu)	NEFH (V58L)	Single nucleotide variant (missense variant)	NEFH-related disorder	GUncertain significance
Select item 1060727	NM_021076.4(NEFH):c.172G>A (p.Val58Met)	NEFH (V58M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905054	NM_021076.4(NEFH):c.180C>T (p.Ala60=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2282935	NM_021076.4(NEFH):c.184C>T (p.Pro62Ser)	NEFH (P62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381127	NM_021076.4(NEFH):c.187A>G (p.Ser63Gly)	NEFH (S63G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504934	NM_021076.4(NEFH):c.197G>A (p.Arg66His)	NEFH (R66H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1928106	NM_021076.4(NEFH):c.207C>G (p.Gly69=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827658	NM_021076.4(NEFH):c.210C>T (p.Ala70=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1407359	NM_021076.4(NEFH):c.211G>A (p.Ala71Thr)	NEFH (A71T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3023048	NM_021076.4(NEFH):c.214T>G (p.Ser72Ala)	NEFH (S72A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180619	NM_021076.4(NEFH):c.222C>T (p.Thr74=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937706	NM_021076.4(NEFH):c.235A>T (p.Thr79Ser)	NEFH (T79S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653046	NM_021076.4(NEFH):c.236C>T (p.Thr79Met)	NEFH (T79M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704791	NM_021076.4(NEFH):c.237_238delinsAA (p.Leu80Met)	NEFH (L80M)	Indel (missense variant)	not provided	GUncertain significance
Select item 727015	NM_021076.4(NEFH):c.240G>A (p.Leu80=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963061	NM_021076.4(NEFH):c.242G>A (p.Ser81Asn)	NEFH (S81N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921568	NM_021076.4(NEFH):c.247G>C (p.Gly83Arg)	NEFH (G83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357561	NM_021076.4(NEFH):c.248G>C (p.Gly83Ala)	NEFH (G83A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014551	NM_021076.4(NEFH):c.249G>A (p.Gly83=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947596	NM_021076.4(NEFH):c.251C>T (p.Pro84Leu)	NEFH (P84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963095	NM_021076.4(NEFH):c.252G>A (p.Pro84=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011077	NM_021076.4(NEFH):c.252G>T (p.Pro84=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669445	NM_021076.4(NEFH):c.256G>A (p.Gly86Ser)	NEFH (G86S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2103998	NM_021076.4(NEFH):c.258C>G (p.Gly86=)	NEFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 66742	NM_021076.4(NEFH):c.269C>T (p.Ala90Val)	NEFH (A90V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2976160	NM_021076.4(NEFH):c.271G>C (p.Val91Leu)	NEFH (V91L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1795179	NM_021076.4(NEFH):c.271G>T (p.Val91Leu)	NEFH (V91L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2811655	NM_021076.4(NEFH):c.284G>A (p.Arg95His)	NEFH (R95H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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