3084[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 149021	GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	LOC124153126, LOC124153127 +257 more	Copy number loss	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +288 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 151191	GRCh38/hg38 8p12(chr8:30368765-36421541)x3	DUSP26, FUT10 +85 more	Copy number gain	See cases	GUncertain significance
Select item 153989	GRCh38/hg38 8p12(chr8:30958352-32189009)x3	LOC114004413, LOC126860342 +10 more	Copy number gain	See cases	GLikely benign
Select item 98381	NC_000008.11:g.31639995G>C	NRG1 (R4P)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 98380	NM_013962.3(NRG1):c.11G>A (p.Arg4Gln)	NRG1 (R4Q)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 3042743	NM_013962.3(NRG1):c.15C>G (p.Arg5=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	NRG1-related disorder	GLikely benign
Select item 98382	NM_013962.3(NRG1):c.26G>A (p.Arg9His)	NRG1 (R9H)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 98383	NC_000008.11:g.31640027C>T	NRG1 (P15S)	Single nucleotide variant (intron variant +1 more)	not provided	Gnot provided
Select item 98384	NC_000008.11:g.31640092G>A	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 98385	NC_000008.11:g.31640107C>A	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 1328708	NM_001159995.3(NRG1):c.37+725G>A	NRG1 (G58R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 98386	NC_000008.11:g.31640175C>T	NRG1 (S64L)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 3056685	NM_013962.3(NRG1):c.224T>C (p.Leu75Pro)	NRG1 (L75P)	Single nucleotide variant (intron variant +1 more)	NRG1-related disorder	GBenign
Select item 3038071	NM_013962.3(NRG1):c.302CGG[4] (p.Ala105del)	NRG1 (A105del)	Microsatellite (intron variant)	NRG1-related disorder	GLikely benign
Select item 98387	NC_000008.11:g.31640296G>A	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 98388	NC_000008.11:g.31640334C>T	NRG1 (P117L)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 98389	NC_000008.11:g.31640344G>T	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 3055726	NM_013962.3(NRG1):c.473C>T (p.Ala158Val)	NRG1 (A158V)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 146823	GRCh38/hg38 8p12(chr8:31750519-32478810)x3	LOC114004413, LOC124153140 +3 more	Copy number gain	See cases	GUncertain significance
Select item 152291	GRCh38/hg38 8p12(chr8:31847822-31868891)x1	NRG1	Copy number loss	See cases	GLikely benign
Select item 98390	NM_013964.5(NRG1):c.30A>C (p.Lys10Asn)	NRG1 (K10N)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 3040281	NM_013964.5(NRG1):c.111C>G (p.Pro37=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	NRG1-related disorder	GLikely benign
Select item 3059329	NM_013964.5(NRG1):c.113G>A (p.Arg38Gln)	NRG1 (R17Q +2 more)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 98391	NM_013964.5(NRG1):c.140C>T (p.Ser47Leu)	NRG1 (S262L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 749108	NM_013964.5(NRG1):c.141G>A (p.Ser47=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 748694	NM_013964.5(NRG1):c.162C>T (p.Val54=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 810273	NM_013964.5(NRG1):c.233A>T (p.Asn78Ile)	NRG1 (N293I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 739457	NM_013964.5(NRG1):c.282G>A (p.Lys94=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1065609	NM_013964.5(NRG1):c.332T>C (p.Met111Thr)	NRG1 (M111T +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GAffects
Select item 780750	NM_013964.5(NRG1):c.414T>C (p.Gly138=)	NRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3038833	NM_013964.5(NRG1):c.502+30933C>A	NRG1 (A34E)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 3060573	NM_013964.5(NRG1):c.502+30968G>A	NRG1 (G46R)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 2658528	NM_013964.5(NRG1):c.502+31211G>C	NRG1 (A127P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 218702	NM_013964.5(NRG1):c.502+31229G>C	NRG1 (V133L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3353184	NM_013964.5(NRG1):c.502+31342G>A	NRG1	Single nucleotide variant (synonymous variant +1 more)	NRG1-related disorder	GLikely benign
Select item 152871	GRCh38/hg38 8p12(chr8:32713114-33352866)x1	FUT10, LOC105379362 +5 more	Copy number loss	See cases	GUncertain significance
Select item 740327	NM_013964.5(NRG1):c.600A>G (p.Lys200=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 98392	NM_013964.5(NRG1):c.679A>G (p.Met227Val)	NRG1 (M73V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 1285094	NM_013964.5(NRG1):c.781G>T (p.Val261Leu)	NRG1 (V104L +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 98393	NM_013964.5(NRG1):c.819G>T (p.Lys273Asn)	NRG1 (K240N +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98394	NM_013964.5(NRG1):c.835C>G (p.Arg279Gly)	NRG1 (R246G +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98395	NM_013964.5(NRG1):c.857G>A (p.Arg286Gln)	NRG1 (R253Q +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3060016	NM_013964.5(NRG1):c.866T>C (p.Met289Thr)	NRG1 (M132T +9 more)	Single nucleotide variant (missense variant)	NRG1-related disorder	GBenign
Select item 98396	NM_013964.5(NRG1):c.893A>G (p.His298Arg)	NRG1 (H265R +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98397	NM_013964.5(NRG1):c.1005T>C (p.Ser335=)	NRG1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 1285117	NM_013964.5(NRG1):c.1062-5C>T	LOC126860346, NRG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3039711	NM_013964.5(NRG1):c.1062-4G>A	LOC126860346, NRG1	Single nucleotide variant (intron variant)	NRG1-related disorder	GBenign
Select item 749866	NM_013964.5(NRG1):c.1095C>T (p.Ser365=)	LOC126860346, NRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039681	NM_013964.5(NRG1):c.1096G>A (p.Glu366Lys)	LOC126860346, NRG1 (E363K +9 more)	Single nucleotide variant (missense variant)	NRG1-related disorder	GBenign
Select item 747377	NM_013964.5(NRG1):c.1104C>T (p.His368=)	LOC126860346, NRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799093	NM_013964.5(NRG1):c.1158G>T (p.Gly386=)	LOC126860346, NRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730052	NM_013964.5(NRG1):c.1232C>G (p.Thr411Ser)	LOC126860346, NRG1 (T411S +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 810274	NM_013964.5(NRG1):c.1246C>T (p.Arg416Ter)	LOC126860346, NRG1 (R259* +9 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 98398	NM_013964.5(NRG1):c.1322C>T (p.Thr441Met)	NRG1 (T408M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 712801	NM_013964.5(NRG1):c.1365C>T (p.Pro455=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 739170	NM_013964.5(NRG1):c.1380G>A (p.Thr460=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 98399	NM_013964.5(NRG1):c.1538C>T (p.Pro513Leu)	NRG1 (P480L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 1285009	NM_013964.5(NRG1):c.1633C>T (p.Arg545Trp)	NRG1 (R287W +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 786558	NM_013964.5(NRG1):c.1634G>A (p.Arg545Gln)	NRG1 (R545Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3039316	NM_013964.5(NRG1):c.1640C>T (p.Ala547Val)	NRG1 (A289V +8 more)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GLikely benign
Select item 3038557	NM_013964.5(NRG1):c.1808C>A (p.Pro603His)	NRG1 (P345H +8 more)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 3059231	NM_013964.5(NRG1):c.1847G>T (p.Gly616Val)	NRG1 (G358V +8 more)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic

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