SLFNL1[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 3320480	NM_144990.4(SLFNL1):c.1198G>A (p.Val400Met)	SLFNL1, SLFNL1-AS1 (V341M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2376249	NM_144990.4(SLFNL1):c.1145C>T (p.Ala382Val)	SLFNL1, SLFNL1-AS1 (A334V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2382692	NM_144990.4(SLFNL1):c.1047C>A (p.Asp349Glu)	SLFNL1, SLFNL1-AS1 (D290E +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2361901	NM_144990.4(SLFNL1):c.1045G>A (p.Asp349Asn)	SLFNL1, SLFNL1-AS1 (D290N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3320479	NM_144990.4(SLFNL1):c.1043G>A (p.Arg348His)	SLFNL1, SLFNL1-AS1 (R348H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2493554	NM_144990.4(SLFNL1):c.1040G>A (p.Arg347Gln)	SLFNL1, SLFNL1-AS1 (R288Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2559203	NM_144990.4(SLFNL1):c.1009T>C (p.Tyr337His)	SLFNL1, SLFNL1-AS1 (Y337H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3320474	NM_144990.4(SLFNL1):c.965G>A (p.Arg322His)	SLFNL1, SLFNL1-AS1 (R263H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2546843	NM_144990.4(SLFNL1):c.945C>A (p.Ser315Arg)	SLFNL1, SLFNL1-AS1 (S256R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2394437	NM_144990.4(SLFNL1):c.856G>T (p.Asp286Tyr)	SLFNL1, SLFNL1-AS1 (D227Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2591103	NM_144990.4(SLFNL1):c.838C>T (p.Arg280Cys)	SLFNL1, SLFNL1-AS1 (R221C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2275402	NM_144990.4(SLFNL1):c.808G>A (p.Gly270Ser)	SLFNL1, SLFNL1-AS1 (G211S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3165998	NM_144990.4(SLFNL1):c.790G>A (p.Asp264Asn)	SLFNL1, SLFNL1-AS1 (D264N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3165997	NM_144990.4(SLFNL1):c.778G>A (p.Val260Met)	SLFNL1, SLFNL1-AS1 (V201M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2349606	NM_144990.4(SLFNL1):c.763G>A (p.Gly255Ser)	SLFNL1, SLFNL1-AS1 (G196S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3320475	NM_144990.4(SLFNL1):c.746C>T (p.Ala249Val)	SLFNL1, SLFNL1-AS1 (A249V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3165996	NM_144990.4(SLFNL1):c.739G>A (p.Val247Met)	SLFNL1, SLFNL1-AS1 (V247M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2401020	NM_144990.4(SLFNL1):c.733C>T (p.Arg245Cys)	SLFNL1, SLFNL1-AS1 (R186C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3165995	NM_144990.4(SLFNL1):c.697G>A (p.Glu233Lys)	SLFNL1, SLFNL1-AS1 (E174K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2459977	NM_144990.4(SLFNL1):c.694G>A (p.Gly232Ser)	SLFNL1, SLFNL1-AS1 (G232S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3165994	NM_144990.4(SLFNL1):c.686G>A (p.Arg229Gln)	SLFNL1, SLFNL1-AS1 (R170Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2397338	NM_144990.4(SLFNL1):c.630C>G (p.Asp210Glu)	SLFNL1, SLFNL1-AS1 (D151E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3165993	NM_144990.4(SLFNL1):c.580G>A (p.Gly194Ser)	SLFNL1, SLFNL1-AS1 (G194S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2525832	NM_144990.4(SLFNL1):c.572G>A (p.Arg191Gln)	SLFNL1, SLFNL1-AS1 (R191Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3165992	NM_144990.4(SLFNL1):c.569G>A (p.Gly190Asp)	SLFNL1, SLFNL1-AS1 (G190D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2620185	NM_144990.4(SLFNL1):c.499C>G (p.Pro167Ala)	SLFNL1, SLFNL1-AS1 (P167A)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2496133	NM_144990.4(SLFNL1):c.461G>C (p.Ser154Thr)	SLFNL1, SLFNL1-AS1 (S154T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2411177	NM_144990.4(SLFNL1):c.425G>A (p.Ser142Asn)	SLFNL1, SLFNL1-AS1 (S142N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403602	NM_144990.4(SLFNL1):c.404G>A (p.Ser135Asn)	SLFNL1, SLFNL1-AS1 (S135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320478	NM_144990.4(SLFNL1):c.341C>T (p.Thr114Met)	SLFNL1, SLFNL1-AS1 (T114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240793	NM_144990.4(SLFNL1):c.314T>C (p.Leu105Pro)	SLFNL1, SLFNL1-AS1 (L105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165990	NM_144990.4(SLFNL1):c.263G>A (p.Arg88Gln)	SLFNL1, SLFNL1-AS1 (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492334	NM_144990.4(SLFNL1):c.262C>T (p.Arg88Trp)	SLFNL1, SLFNL1-AS1 (R88W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608139	NM_144990.4(SLFNL1):c.260G>A (p.Arg87Lys)	SLFNL1, SLFNL1-AS1 (R87K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165989	NM_144990.4(SLFNL1):c.203G>T (p.Arg68Leu)	SLFNL1, SLFNL1-AS1 (R68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555985	NM_144990.4(SLFNL1):c.149A>C (p.Tyr50Ser)	SLFNL1, SLFNL1-AS1 (Y50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341560	NM_144990.4(SLFNL1):c.139C>T (p.His47Tyr)	SLFNL1, SLFNL1-AS1 (H47Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285198	NM_144990.4(SLFNL1):c.137C>T (p.Ala46Val)	SLFNL1, SLFNL1-AS1 (A46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215469	NM_144990.4(SLFNL1):c.128C>T (p.Ala43Val)	SLFNL1, SLFNL1-AS1 (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229154	NM_144990.4(SLFNL1):c.104C>T (p.Thr35Met)	SLFNL1, SLFNL1-AS1 (T35M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320473	NM_144990.4(SLFNL1):c.67G>A (p.Glu23Lys)	SLFNL1, SLFNL1-AS1 (E23K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320477	NM_144990.4(SLFNL1):c.66G>T (p.Glu22Asp)	SLFNL1, SLFNL1-AS1 (E22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224207	NM_144990.4(SLFNL1):c.58T>C (p.Trp20Arg)	SLFNL1, SLFNL1-AS1 (W20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165991	NM_144990.4(SLFNL1):c.43C>T (p.Pro15Ser)	SLFNL1, SLFNL1-AS1 (P15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267079	NM_144990.4(SLFNL1):c.41A>C (p.Glu14Ala)	SLFNL1, SLFNL1-AS1 (E14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, COL9A2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1410532	NC_000001.10:g.(?_41474523)_(41510926_?)del	CTPS1, SCMH1 +1 more	Deletion	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394139	GRCh37/hg19 1p34.2(chr1:41086977-41670357)x3	CITED4, CTPS1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 254027	GRCh37/hg19 1p34.2(chr1:40944820-42213560)x1	ZFP69, EDN2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 242842	GRCh37/hg19 1p34.2(chr1:41343608-43121507)x1	RIMKLA, FOXO6 +11 more	Copy number loss	See cases	GLikely pathogenic

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Items: 62