LRFN4[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006205, LOC130006206 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	RIN1, RPS6KB2 +212 more	Copy number gain	See cases	GPathogenic
Select item 2553913	NM_024036.5(LRFN4):c.568G>A (p.Ala190Thr)	LRFN4, PC (A190T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555163	NM_024036.5(LRFN4):c.646C>A (p.Arg216Ser)	LRFN4, PC (R216S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267576	NM_024036.5(LRFN4):c.746C>T (p.Ala249Val)	PC, LRFN4 (A249V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2642009	NM_024036.5(LRFN4):c.816C>T (p.Pro272=)	LRFN4, PC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2460205	NM_024036.5(LRFN4):c.823G>A (p.Glu275Lys)	LRFN4, PC (E275K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280939	NM_024036.5(LRFN4):c.1033G>A (p.Asp345Asn)	PC, LRFN4 (D345N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544557	NM_024036.5(LRFN4):c.1160C>T (p.Ser387Leu)	LRFN4, PC (S387L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492752	NM_024036.5(LRFN4):c.1177G>A (p.Ala393Thr)	LRFN4, PC (A393T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225708	NM_024036.5(LRFN4):c.1180C>T (p.Arg394Cys)	PC, LRFN4 (R394C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392210	NM_024036.5(LRFN4):c.1276G>A (p.Gly426Arg)	PC, LRFN4 (G426R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265811	NM_024036.5(LRFN4):c.1330G>A (p.Asp444Asn)	PC, LRFN4 (D444N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553094	NM_024036.5(LRFN4):c.1337C>A (p.Thr446Asn)	LRFN4, PC (T446N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516043	NM_024036.5(LRFN4):c.1399G>A (p.Gly467Ser)	LRFN4, PC (G467S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325746	NM_024036.5(LRFN4):c.1427C>T (p.Ala476Val)	PC, LRFN4 (A476V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325221	NM_024036.5(LRFN4):c.1460C>T (p.Thr487Met)	PC, LRFN4 (T487M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350777	NM_024036.5(LRFN4):c.1508C>T (p.Ser503Leu)	PC, LRFN4 (S503L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610893	NM_024036.5(LRFN4):c.1537G>A (p.Val513Met)	LRFN4, PC (V513M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294364	NM_024036.5(LRFN4):c.1546G>A (p.Gly516Arg)	PC, LRFN4 (G516R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409614	NM_024036.5(LRFN4):c.1564G>A (p.Val522Met)	LRFN4, PC (V522M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397301	NM_024036.5(LRFN4):c.1633G>A (p.Gly545Arg)	LRFN4, PC (G545R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327681	NM_024036.5(LRFN4):c.1702C>A (p.Pro568Thr)	PC, LRFN4 (P568T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229482	NM_024036.5(LRFN4):c.1706A>G (p.Lys569Arg)	PC, LRFN4 (K569R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496221	NM_024036.5(LRFN4):c.1846C>G (p.Leu616Val)	LRFN4, PC (L616V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477587	NM_024036.5(LRFN4):c.1861C>T (p.Arg621Trp)	LRFN4, PC (R621W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1030920	NM_024036.5(LRFN4):c.1882G>T (p.Glu628Ter)	LRFN4, PC (E628*)	Single nucleotide variant (nonsense +1 more)	Pyruvate carboxylase deficiency	GPathogenic
Select item 2229136	NM_024036.5(LRFN4):c.1885C>T (p.Arg629Trp)	LRFN4, PC (R629W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1457685	NC_000011.9:g.(?_66618135)_(66639640_?)del	LRFN4, PC	Deletion	Pyruvate carboxylase deficiency	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	GRK2, LRFN4 +57 more	Copy number gain	See cases	GUncertain significance

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Items: 39