ClinVar for Gene (Select 100507178) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 3158470	NM_001394311.1(SCMH1):c.1991G>A (p.Arg664Gln)	SCMH1, SLFNL1-AS1 (R654Q +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158469	NM_001394311.1(SCMH1):c.1769G>T (p.Arg590Leu)	SCMH1, SLFNL1-AS1 (R412L +12 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158468	NM_001394311.1(SCMH1):c.1764G>T (p.Glu588Asp)	SCMH1, SLFNL1-AS1 (E398D +12 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158467	NM_001394311.1(SCMH1):c.1643G>A (p.Ser548Asn)	SCMH1, SLFNL1-AS1 (S380N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158466	NM_001394311.1(SCMH1):c.1613C>T (p.Pro538Leu)	SCMH1, SLFNL1-AS1 (P481L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638727	NM_001394311.1(SCMH1):c.1668A>G (p.Leu556=)	SCMH1, SLFNL1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 2481052	NM_001394311.1(SCMH1):c.1628G>A (p.Cys543Tyr)	SCMH1, SLFNL1-AS1 (C486Y +7 more)	Single nucleotide variant (missense 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 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 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 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 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 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 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 2373461	NM_001394311.1(SCMH1):c.1889A>G (p.Glu630Gly)	SCMH1, SLFNL1-AS1 (E510G +12 more)	Single nucleotide variant (missense variant +1 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 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 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 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 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 2257715	NM_001394311.1(SCMH1):c.1499G>T (p.Gly500Val)	SCMH1, SLFNL1-AS1 (G399V +7 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 2219445	NM_001394311.1(SCMH1):c.1751A>G (p.Asp584Gly)	SCMH1, SLFNL1-AS1 (D464G +12 more)	Single nucleotide variant (missense variant +1 more)	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 2212701	NM_001394311.1(SCMH1):c.1558A>G (p.Met520Val)	SCMH1, SLFNL1-AS1 (M342V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212687	NM_001394311.1(SCMH1):c.1531C>T (p.Arg511Cys)	SCMH1, SLFNL1-AS1 (R501C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	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 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 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

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Links from Gene

Items: 56