NSMAF[gene] - ClinVar

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Items: 80

	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 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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 151958	GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1	BPNT2, CA8 +175 more	Copy number loss	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 60362	GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1	BPNT2, CERNA3 +105 more	Copy number loss	See cases	GPathogenic
Select item 60363	GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1	ASPH, BPNT2 +108 more	Copy number loss	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 3202379	NM_003580.4(NSMAF):c.2737T>C (p.Trp913Arg)	NSMAF (W746R +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241111	NM_003580.4(NSMAF):c.2384C>T (p.Ala795Val)	NSMAF (A665V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531218	NM_003580.4(NSMAF):c.2357C>G (p.Thr786Arg)	NSMAF (T131R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301156	NM_003580.4(NSMAF):c.2345C>T (p.Thr782Ile)	NSMAF (T790I +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321764	NM_003580.4(NSMAF):c.2320G>A (p.Ala774Thr)	NSMAF (A154T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202378	NM_003580.4(NSMAF):c.2257C>A (p.His753Asn)	NSMAF (H759N +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202377	NM_003580.4(NSMAF):c.2222G>A (p.Gly741Asp)	NSMAF (G611D +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202376	NM_003580.4(NSMAF):c.2221G>A (p.Gly741Ser)	NSMAF (G611S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304754	NM_003580.4(NSMAF):c.2144A>G (p.Asp715Gly)	NSMAF (D585G +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301152	NM_003580.4(NSMAF):c.2086G>T (p.Val696Phe)	NSMAF (V41F +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301159	NM_003580.4(NSMAF):c.2084A>G (p.Asn695Ser)	NSMAF (N559S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264443	NM_003580.4(NSMAF):c.2053G>A (p.Ala685Thr)	NSMAF (A549T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301162	NM_003580.4(NSMAF):c.1925G>C (p.Gly642Ala)	NSMAF (G512A +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202375	NM_003580.4(NSMAF):c.1870G>C (p.Glu624Gln)	LOC126860401, NSMAF (E631Q +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202374	NM_003580.4(NSMAF):c.1849A>G (p.Ile617Val)	LOC126860401, NSMAF (I481V +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590896	NM_003580.4(NSMAF):c.1705G>A (p.Val569Met)	NSMAF (V433M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309661	NM_003580.4(NSMAF):c.1679T>G (p.Phe560Cys)	NSMAF (F430C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301160	NM_003580.4(NSMAF):c.1523A>G (p.Glu508Gly)	NSMAF (E341G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464095	NM_003580.4(NSMAF):c.1416G>T (p.Gln472His)	NSMAF (Q472H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202373	NM_003580.4(NSMAF):c.1403G>A (p.Arg468Lys)	NSMAF (R476K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202371	NM_003580.4(NSMAF):c.1351G>T (p.Gly451Cys)	NSMAF (G284C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202370	NM_003580.4(NSMAF):c.1349A>G (p.Tyr450Cys)	NSMAF (Y458C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247623	NM_003580.4(NSMAF):c.1271T>G (p.Met424Arg)	NSMAF (M424R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362789	NM_003580.4(NSMAF):c.1184C>T (p.Pro395Leu)	NSMAF (P228L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202369	NM_003580.4(NSMAF):c.1163A>G (p.Tyr388Cys)	NSMAF (Y258C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301158	NM_003580.4(NSMAF):c.1140A>C (p.Glu380Asp)	NSMAF (E250D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403262	NM_003580.4(NSMAF):c.1126-25_1126-23dup	NSMAF	Duplication (intron variant)	not specified	GBenign
Select item 3301157	NM_003580.4(NSMAF):c.1066T>C (p.Phe356Leu)	NSMAF (F379L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239576	NM_003580.4(NSMAF):c.1063A>G (p.Thr355Ala)	NSMAF (T225A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202366	NM_003580.4(NSMAF):c.1061G>A (p.Gly354Glu)	NSMAF (G218E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298066	NM_003580.4(NSMAF):c.1047T>A (p.Asp349Glu)	NSMAF (D213E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459107	NM_003580.4(NSMAF):c.820G>A (p.Glu274Lys)	NSMAF (E305K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341007	NM_003580.4(NSMAF):c.741G>T (p.Arg247Ser)	NSMAF (R117S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202380	NM_003580.4(NSMAF):c.686C>T (p.Pro229Leu)	NSMAF (P260L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492931	NM_003580.4(NSMAF):c.673C>G (p.Leu225Val)	NSMAF (L58V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607180	NM_003580.4(NSMAF):c.658C>A (p.Leu220Met)	NSMAF (L53M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301155	NM_003580.4(NSMAF):c.631G>C (p.Gly211Arg)	NSMAF (G211R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352374	NM_003580.4(NSMAF):c.611C>T (p.Thr204Met)	NSMAF (T235M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601066	NM_003580.4(NSMAF):c.538A>G (p.Thr180Ala)	NSMAF (T180A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359676	NM_003580.4(NSMAF):c.527G>A (p.Arg176His)	NSMAF (R9H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296219	NM_003580.4(NSMAF):c.526C>T (p.Arg176Cys)	NSMAF (R46C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301161	NM_003580.4(NSMAF):c.499G>T (p.Ala167Ser)	NSMAF (A167S +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2232547	NM_003580.4(NSMAF):c.412G>A (p.Asp138Asn)	NSMAF (D161N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354920	NM_003580.4(NSMAF):c.370T>C (p.Tyr124His)	NSMAF (Y124H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223111	NM_003580.4(NSMAF):c.329G>C (p.Ser110Thr)	NSMAF (S110T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552870	NM_003580.4(NSMAF):c.128A>C (p.His43Pro)	NSMAF (H43P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202372	NM_003580.4(NSMAF):c.59+371A>G	NSMAF (R49G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455871	NM_003580.4(NSMAF):c.59+350C>G	NSMAF (H42D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558910	NM_003580.4(NSMAF):c.59+348G>A	NSMAF (R41Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202368	NM_003580.4(NSMAF):c.59+344T>C	NSMAF (S40P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202367	NM_003580.4(NSMAF):c.59+341G>A	NSMAF (G39R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314619	NM_003580.4(NSMAF):c.59+327C>G	NSMAF (A34G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274746	NM_003580.4(NSMAF):c.59+293C>G	NSMAF (R23G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527433	GRCh37/hg19 8q12.1(chr8:58247706-60355217)	CYP7A1, FAM110B +5 more	Copy number loss	not specified	GUncertain significance
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 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	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 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 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic

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Items: 80