RSF1[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 2347622	NM_016578.4(RSF1):c.4243G>A (p.Ala1415Thr)	RSF1 (A1415T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315540	NM_016578.4(RSF1):c.4221T>G (p.Asn1407Lys)	RSF1 (N1407K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545424	NM_016578.4(RSF1):c.4190A>G (p.Asn1397Ser)	RSF1 (N1397S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291303	NM_016578.4(RSF1):c.4124G>A (p.Ser1375Asn)	RSF1 (S1375N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315534	NM_016578.4(RSF1):c.4069G>A (p.Val1357Met)	RSF1 (V1357M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156640	NM_016578.4(RSF1):c.4013A>G (p.Lys1338Arg)	RSF1 (K1338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156639	NM_016578.4(RSF1):c.3904C>T (p.Arg1302Trp)	RSF1 (R1302W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156638	NM_016578.4(RSF1):c.3890G>A (p.Arg1297His)	RSF1 (R1297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156637	NM_016578.4(RSF1):c.3874G>A (p.Glu1292Lys)	RSF1 (E1292K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388086	NM_016578.4(RSF1):c.3853G>A (p.Asp1285Asn)	RSF1 (D1285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156636	NM_016578.4(RSF1):c.3842A>G (p.Tyr1281Cys)	RSF1 (Y1281C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642192	NM_016578.4(RSF1):c.3840G>A (p.Glu1280=)	RSF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3315530	NM_016578.4(RSF1):c.3832A>G (p.Thr1278Ala)	RSF1 (T1278A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356979	NM_016578.4(RSF1):c.3806G>A (p.Arg1269Gln)	RSF1 (R1269Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360548	NM_016578.4(RSF1):c.3805C>T (p.Arg1269Trp)	RSF1 (R1269W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398330	NM_016578.4(RSF1):c.3701A>C (p.Lys1234Thr)	RSF1 (K1234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642193	NM_016578.4(RSF1):c.3672C>T (p.Asp1224=)	RSF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2338519	NM_016578.4(RSF1):c.3590A>G (p.Asp1197Gly)	RSF1 (D1197G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156635	NM_016578.4(RSF1):c.3529G>A (p.Glu1177Lys)	RSF1 (E1177K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315535	NM_016578.4(RSF1):c.3413A>G (p.Asp1138Gly)	RSF1 (D1138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491854	NM_016578.4(RSF1):c.3349G>A (p.Asp1117Asn)	RSF1 (D1117N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156634	NM_016578.4(RSF1):c.3301G>T (p.Asp1101Tyr)	RSF1 (D1101Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315529	NM_016578.4(RSF1):c.3241G>A (p.Ala1081Thr)	RSF1 (A1081T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493639	NM_016578.4(RSF1):c.3188T>C (p.Ile1063Thr)	RSF1 (I1063T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315538	NM_016578.4(RSF1):c.3143G>C (p.Arg1048Pro)	RSF1 (R1048P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156633	NM_016578.4(RSF1):c.2789A>G (p.Asp930Gly)	RSF1 (D930G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333749	NM_016578.4(RSF1):c.2591G>A (p.Gly864Glu)	RSF1 (G864E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156632	NM_016578.4(RSF1):c.2587G>C (p.Glu863Gln)	RSF1 (E863Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156631	NM_016578.4(RSF1):c.2437G>A (p.Ala813Thr)	RSF1 (A813T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241570	NM_016578.4(RSF1):c.2431T>C (p.Ser811Pro)	RSF1 (S811P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238570	NM_016578.4(RSF1):c.2429A>T (p.Glu810Val)	RSF1 (E810V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315527	NM_016578.4(RSF1):c.2390A>T (p.Asp797Val)	RSF1 (D797V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470315	NM_016578.4(RSF1):c.2295A>C (p.Glu765Asp)	RSF1 (E765D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345407	NM_016578.4(RSF1):c.2249C>A (p.Pro750His)	RSF1 (P750H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156630	NM_016578.4(RSF1):c.2237C>T (p.Pro746Leu)	RSF1 (P746L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315537	NM_016578.4(RSF1):c.2123A>G (p.Tyr708Cys)	RSF1 (Y708C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405798	NM_016578.4(RSF1):c.2102T>C (p.Met701Thr)	RSF1 (M701T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408428	NM_016578.4(RSF1):c.2092A>G (p.Lys698Glu)	RSF1 (K698E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465957	NM_016578.4(RSF1):c.2080C>T (p.Pro694Ser)	RSF1 (P694S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290070	NM_016578.4(RSF1):c.2050G>C (p.Asp684His)	RSF1 (D684H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403277	NM_016578.4(RSF1):c.2044A>G (p.Asn682Asp)	RSF1 (N682D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156629	NM_016578.4(RSF1):c.1993G>C (p.Asp665His)	RSF1 (D665H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156628	NM_016578.4(RSF1):c.1993G>A (p.Asp665Asn)	RSF1 (D665N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277747	NM_016578.4(RSF1):c.1990G>C (p.Val664Leu)	RSF1 (V664L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156627	NM_016578.4(RSF1):c.1972G>C (p.Gly658Arg)	RSF1 (G658R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305221	NM_016578.4(RSF1):c.1898A>G (p.Asn633Ser)	RSF1 (N633S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568560	NM_016578.4(RSF1):c.1843C>G (p.Leu615Val)	RSF1 (L615V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464860	NM_016578.4(RSF1):c.1840A>G (p.Thr614Ala)	RSF1 (T614A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518998	NM_016578.4(RSF1):c.1819C>G (p.Pro607Ala)	RSF1 (P607A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315536	NM_016578.4(RSF1):c.1790A>G (p.Asp597Gly)	RSF1 (D597G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156626	NM_016578.4(RSF1):c.1736C>T (p.Pro579Leu)	RSF1 (P579L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156625	NM_016578.4(RSF1):c.1697G>T (p.Gly566Val)	RSF1 (G566V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231053	NM_016578.4(RSF1):c.1687A>T (p.Thr563Ser)	RSF1 (T563S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208586	NM_016578.4(RSF1):c.1678G>A (p.Glu560Lys)	RSF1 (E560K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532147	NM_016578.4(RSF1):c.1642A>G (p.Lys548Glu)	RSF1 (K548E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315531	NM_016578.4(RSF1):c.1549A>T (p.Ile517Leu)	RSF1 (I517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315533	NM_016578.4(RSF1):c.1484C>A (p.Thr495Lys)	RSF1 (T495K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597769	NM_016578.4(RSF1):c.1445C>T (p.Thr482Met)	RSF1 (T482M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517043	NM_016578.4(RSF1):c.1400C>A (p.Thr467Lys)	RSF1 (T467K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206365	NM_016578.4(RSF1):c.1380A>G (p.Ile460Met)	RSF1 (I460M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3315532	NM_016578.4(RSF1):c.1237T>C (p.Phe413Leu)	RSF1 (F413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303465	NM_016578.4(RSF1):c.1204C>T (p.Pro402Ser)	RSF1 (P402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279360	NM_016578.4(RSF1):c.1201G>A (p.Gly401Arg)	RSF1 (G401R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401410	NM_016578.4(RSF1):c.953A>G (p.Asn318Ser)	RSF1 (N318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236432	NM_016578.4(RSF1):c.673C>T (p.Arg225Trp)	RSF1 (R225W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156641	NM_016578.4(RSF1):c.460A>G (p.Ile154Val)	RSF1 (I154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316824	NM_016578.4(RSF1):c.346G>A (p.Val116Ile)	RSF1 (V116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156642	NM_016578.4(RSF1):c.61C>T (p.Pro21Ser)	RSF1 (P21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551413	NM_024684.4(AAMDC):c.53G>C (p.Gly18Ala)	AAMDC, RSF1 (G18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260658	NM_024684.4(AAMDC):c.140C>T (p.Pro47Leu)	AAMDC, RSF1 (P93L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261216	NM_024684.4(AAMDC):c.181G>C (p.Gly61Arg)	AAMDC, RSF1 (G61R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684649	GRCh37/hg19 11q14.1(chr11:77410576-77785957)x3	AAMDC, INTS4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808749	GRCh37/hg19 11q14.1(chr11:77211136-78014355)x3	AAMDC, ALG8 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527652	GRCh37/hg19 11q14.1(chr11:77415541-77785783)	AAMDC, INTS4 +5 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 688758	GRCh37/hg19 11q14.1(chr11:77276494-77430704)x3	AQP11, CLNS1A +1 more	Copy number gain	not provided	GUncertain significance
Select item 688702	GRCh37/hg19 11q14.1(chr11:77410575-77785783)x3	AAMDC, INTS4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688177	GRCh37/hg19 11q14.1(chr11:77410575-77785783)x3	AAMDC, INTS4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563857	GRCh37/hg19 11q13.5-14.1(chr11:76895239-77568340)x3	PAK1, AQP11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 85