ClinVar for Gene (Select 4741) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299173	NM_005382.2(NEFM):c.1252A>C (p.Ser418Arg)	NEFM (S42R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299172	NM_005382.2(NEFM):c.1970C>T (p.Pro657Leu)	NEFM (P281L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299171	NM_005382.2(NEFM):c.520G>A (p.Asp174Asn)	NEFM (D174N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299170	NM_005382.2(NEFM):c.965G>A (p.Arg322His)	NEFM (R322H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299168	NM_005382.2(NEFM):c.2117A>T (p.Glu706Val)	NEFM (E706V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299167	NM_005382.2(NEFM):c.1847C>T (p.Pro616Leu)	NEFM (P240L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191314	NM_005382.2(NEFM):c.766G>A (p.Val256Met)	NEFM (V256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191309	NM_005382.2(NEFM):c.71T>C (p.Phe24Ser)	NEFM (F24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191307	NM_005382.2(NEFM):c.661G>A (p.Asp221Asn)	NEFM (D221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191298	NM_005382.2(NEFM):c.38C>G (p.Ala13Gly)	NEFM (A13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191293	NM_005382.2(NEFM):c.361T>C (p.Tyr121His)	NEFM (Y121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191285	NM_005382.2(NEFM):c.2666C>A (p.Thr889Asn)	NEFM (T889N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191279	NM_005382.2(NEFM):c.2606C>G (p.Ala869Gly)	NEFM (A493G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191269	NM_005382.2(NEFM):c.2485G>T (p.Val829Phe)	NEFM (V453F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191257	NM_005382.2(NEFM):c.2294G>A (p.Gly765Glu)	NEFM (G765E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191246	NM_005382.2(NEFM):c.2056C>T (p.Pro686Ser)	NEFM (P686S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191238	NM_005382.2(NEFM):c.1844C>T (p.Ser615Phe)	NEFM (S239F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191229	NM_005382.2(NEFM):c.1741G>A (p.Glu581Lys)	NEFM (E205K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191225	NM_005382.2(NEFM):c.1730G>T (p.Gly577Val)	NEFM (G577V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191212	NM_005382.2(NEFM):c.1424C>G (p.Ala475Gly)	NEFM (A475G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191202	NM_005382.2(NEFM):c.1004G>A (p.Arg335His)	NEFM (R335H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	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 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	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
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2623323	NM_005382.2(NEFM):c.226G>A (p.Asp76Asn)	NEFM (D76N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620160	NM_005382.2(NEFM):c.254A>G (p.Asn85Ser)	NEFM (N85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593290	NM_005382.2(NEFM):c.2147A>G (p.Glu716Gly)	NEFM (E716G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2531908	NM_005382.2(NEFM):c.1702G>A (p.Glu568Lys)	NEFM (E568K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530370	NM_005382.2(NEFM):c.2033C>G (p.Ala678Gly)	NEFM (A678G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525071	NM_005382.2(NEFM):c.1876G>A (p.Gly626Ser)	NEFM (G626S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 2492448	NM_005382.2(NEFM):c.2653G>A (p.Glu885Lys)	NEFM (E509K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489504	NM_005382.2(NEFM):c.611G>A (p.Arg204His)	NEFM (R204H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461465	NM_005382.2(NEFM):c.915G>C (p.Gln305His)	NEFM (Q305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403526	NM_005382.2(NEFM):c.475G>A (p.Ala159Thr)	NEFM (A159T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391788	NM_005382.2(NEFM):c.578C>A (p.Ala193Glu)	NEFM (A193E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391216	NM_005382.2(NEFM):c.1777G>A (p.Glu593Lys)	NEFM (E593K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364429	NM_005382.2(NEFM):c.503A>G (p.Lys168Arg)	NEFM (K168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350543	NM_005382.2(NEFM):c.1578A>C (p.Glu526Asp)	NEFM (E150D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329273	NM_005382.2(NEFM):c.2461A>C (p.Ser821Arg)	NEFM (S445R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320007	NM_005382.2(NEFM):c.2597G>A (p.Gly866Glu)	NEFM (G866E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310756	NM_005382.2(NEFM):c.2725G>C (p.Val909Leu)	NEFM (V909L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290734	NM_005382.2(NEFM):c.1628C>T (p.Ala543Val)	NEFM (A167V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272988	NM_005382.2(NEFM):c.1978C>G (p.Pro660Ala)	NEFM (P660A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270858	NM_005382.2(NEFM):c.2515G>T (p.Ala839Ser)	NEFM (A463S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264080	NM_005382.2(NEFM):c.1909G>A (p.Glu637Lys)	NEFM (E261K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250821	NM_005382.2(NEFM):c.2338G>A (p.Glu780Lys)	NEFM (E404K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249456	NM_005382.2(NEFM):c.124C>G (p.Arg42Gly)	NEFM (R42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249076	NM_005382.2(NEFM):c.628A>C (p.Ile210Leu)	NEFM (I210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215727	NM_005382.2(NEFM):c.1501G>C (p.Ala501Pro)	NEFM (A125P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808900	GRCh37/hg19 8p21.2(chr8:24709967-24924326)x3	NEFL, NEFM	Copy number gain	not provided	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
Select item 1340971	GRCh37/hg19 8p21.2(chr8:24221648-24947015)x3	ADAM7, ADAMDEC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1049960	NM_005382.2(NEFM):c.2594G>C (p.Gly865Ala)	NEFM (G489A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 815114	GRCh37/hg19 8p21.2(chr8:24677568-25116307)x3	NEFM, DOCK5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815113	GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1	ADAM7, ADRA1A +30 more	Copy number loss	not provided	GPathogenic
Select item 724149	NM_005382.2(NEFM):c.1787C>A (p.Ala596Asp)	NEFM (A220D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 719717	NM_005382.2(NEFM):c.678G>T (p.Ser226=)	NEFM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709260	NM_005382.2(NEFM):c.12G>A (p.Thr4=)	NEFM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 686595	GRCh37/hg19 8p21.2(chr8:23501519-24907990)x1	ADAM28, ADAM7 +6 more	Copy number loss	not provided	GPathogenic
Select item 686366	GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1	ADAM28, ADAM7 +37 more	Copy number loss	not provided	GPathogenic
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563500	GRCh37/hg19 8p21.2(chr8:24314161-24933369)x3	ADAM7, NEFM +1 more	Copy number gain	not provided	GUncertain significance
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	CSGALNACT1, SFTPC +77 more	Copy number gain	Autism +7 more	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395721	GRCh37/hg19 8p21.2-12(chr8:24514488-34808438)	ADRA1A, BNIP3L +51 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	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 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 157113	Single allele	NEFL, NEFM	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided

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