ClinVar for Gene (Select 57630) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318122	NM_020870.4(SH3RF1):c.1430G>A (p.Arg477His)	SH3RF1 (R477H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318121	NM_020870.4(SH3RF1):c.744A>G (p.Ile248Met)	SH3RF1 (I248M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318120	NM_020870.4(SH3RF1):c.2618G>A (p.Arg873His)	SH3RF1 (R873H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318119	NM_020870.4(SH3RF1):c.1043G>A (p.Gly348Glu)	SH3RF1 (G348E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161384	NM_020870.4(SH3RF1):c.821T>G (p.Val274Gly)	SH3RF1 (V274G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161383	NM_020870.4(SH3RF1):c.617A>G (p.Asp206Gly)	SH3RF1 (D206G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161382	NM_020870.4(SH3RF1):c.466A>G (p.Ser156Gly)	SH3RF1 (S156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161381	NM_020870.4(SH3RF1):c.281C>G (p.Thr94Arg)	SH3RF1 (T94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161380	NM_020870.4(SH3RF1):c.2488G>A (p.Val830Ile)	SH3RF1 (V830I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161378	NM_020870.4(SH3RF1):c.2102G>A (p.Gly701Glu)	SH3RF1 (G701E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161377	NM_020870.4(SH3RF1):c.1760G>A (p.Arg587His)	SH3RF1 (R587H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161376	NM_020870.4(SH3RF1):c.1759C>T (p.Arg587Cys)	SH3RF1 (R587C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161374	NM_020870.4(SH3RF1):c.1291A>G (p.Met431Val)	SH3RF1 (M431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161373	NM_020870.4(SH3RF1):c.1231G>C (p.Ala411Pro)	SH3RF1 (A411P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161372	NM_020870.4(SH3RF1):c.121G>A (p.Val41Ile)	SH3RF1 (V41I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161371	NM_020870.4(SH3RF1):c.1208C>G (p.Pro403Arg)	SH3RF1 (P403R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	F11, FAM149A +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2655178	NM_020870.4(SH3RF1):c.-1G>C	SH3RF1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2622546	NM_020870.4(SH3RF1):c.1171G>C (p.Ala391Pro)	SH3RF1 (A391P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604750	NM_020870.4(SH3RF1):c.578C>A (p.Pro193Gln)	SH3RF1 (P193Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597789	NM_020870.4(SH3RF1):c.331G>A (p.Asp111Asn)	SH3RF1 (D111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594702	NM_020870.4(SH3RF1):c.1577G>A (p.Arg526Gln)	SH3RF1 (R526Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593427	NM_020870.4(SH3RF1):c.2345C>T (p.Thr782Met)	SH3RF1 (T782M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550552	NM_020870.4(SH3RF1):c.503A>G (p.Asp168Gly)	SH3RF1 (D168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545573	NM_020870.4(SH3RF1):c.2495A>G (p.Glu832Gly)	SH3RF1 (E832G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532861	NM_020870.4(SH3RF1):c.589C>T (p.Pro197Ser)	SH3RF1 (P197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524867	NM_020870.4(SH3RF1):c.1130G>T (p.Gly377Val)	SH3RF1 (G377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522737	NM_020870.4(SH3RF1):c.1424T>C (p.Phe475Ser)	SH3RF1 (F475S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520616	NM_020870.4(SH3RF1):c.1249G>A (p.Ala417Thr)	SH3RF1 (A417T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516960	NM_020870.4(SH3RF1):c.1846C>T (p.Leu616Phe)	SH3RF1 (L616F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498336	GRCh37/hg19 4q32.3-34.1(chr4:169709270-171996798)x1	AADAT, CBR4 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2489601	NM_020870.4(SH3RF1):c.2497A>G (p.Arg833Gly)	SH3RF1 (R833G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461738	NM_020870.4(SH3RF1):c.1874A>G (p.His625Arg)	SH3RF1 (H625R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459040	NM_020870.4(SH3RF1):c.2017T>C (p.Ser673Pro)	SH3RF1 (S673P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457971	NM_020870.4(SH3RF1):c.588G>T (p.Gln196His)	SH3RF1 (Q196H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425779	NC_000004.11:g.(?_169433478)_(170523781_?)del	CBR4, NEK1 +2 more	Deletion	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic
Select item 2405868	NM_020870.4(SH3RF1):c.491G>A (p.Arg164Gln)	SH3RF1 (R164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401429	NM_020870.4(SH3RF1):c.1258G>A (p.Ala420Thr)	SH3RF1 (A420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398440	NM_020870.4(SH3RF1):c.2206C>G (p.Pro736Ala)	SH3RF1 (P736A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382768	NM_020870.4(SH3RF1):c.1132C>T (p.Pro378Ser)	SH3RF1 (P378S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379049	NM_020870.4(SH3RF1):c.1285A>T (p.Arg429Trp)	SH3RF1 (R429W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377882	NM_020870.4(SH3RF1):c.1963C>T (p.Pro655Ser)	SH3RF1 (P655S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356002	NM_020870.4(SH3RF1):c.1843G>A (p.Gly615Ser)	SH3RF1 (G615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347266	NM_020870.4(SH3RF1):c.533G>A (p.Gly178Glu)	SH3RF1 (G178E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333602	NM_020870.4(SH3RF1):c.2447G>C (p.Cys816Ser)	SH3RF1 (C816S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274472	NM_020870.4(SH3RF1):c.1252A>G (p.Thr418Ala)	SH3RF1 (T418A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256183	NM_020870.4(SH3RF1):c.1564G>A (p.Gly522Ser)	SH3RF1 (G522S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245643	NM_020870.4(SH3RF1):c.2242A>T (p.Ser748Cys)	SH3RF1 (S748C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230317	NM_020870.4(SH3RF1):c.1733C>T (p.Thr578Met)	SH3RF1 (T578M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211024	NM_020870.4(SH3RF1):c.2426C>G (p.Ala809Gly)	SH3RF1 (A809G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808505	GRCh37/hg19 4q33(chr4:170105742-170317218)x3	NEK1, SH3RF1	Copy number gain	not provided	GUncertain significance
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1346628	NC_000004.11:g.(?_169799043)_(170523781_?)dup	CBR4, NEK1 +2 more	Duplication	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 1047894	GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)	AADAT, ANP32C +39 more	Copy number loss	Autism with high cognitive abilities	GPathogenic
Select item 983279	GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1	AADAT, ADAM29 +35 more	Copy number loss	See cases	GPathogenic
Select item 980708	GRCh37/hg19 4q32.3-33(chr4:170004215-170409009)x3	NEK1, SH3RF1	Copy number gain	not provided	GUncertain significance
Select item 814629	GRCh37/hg19 4q32.3-33(chr4:169962603-170175800)x3	SH3RF1	Copy number gain	not provided	GUncertain significance
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	SCRG1, SH3RF1 +79 more	Copy number loss	not provided	GPathogenic
Select item 713217	NM_020870.4(SH3RF1):c.2451C>T (p.Ser817=)	SH3RF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708813	NM_020870.4(SH3RF1):c.1901C>T (p.Ala634Val)	SH3RF1 (A634V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AADAT, ACSL1 +65 more	Copy number gain	not provided	GPathogenic
Select item 685559	GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3	CPE, DDX60 +36 more	Copy number gain	not provided	GPathogenic
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 562995	GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	AADAT, ACSL1 +63 more	Copy number loss	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	AADAT, ACSL1 +92 more	Copy number gain	not provided	GPathogenic
Select item 562986	GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3	AADAT, ADAM29 +60 more	Copy number gain	not provided	GPathogenic
Select item 560098	Single allele	CBR4, CLCN3 +23 more	Deletion	not provided	GLikely pathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441736	GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1	AADAT, ADAM29 +46 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253675	GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1	AADAT, ADAM29 +40 more	Copy number loss	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic
Select item 155558	GRCh38/hg38 4q32.3-33(chr4:168140014-170186711)x3	AADAT, ANXA10 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 155164	GRCh38/hg38 4q32.3-33(chr4:167469096-170889588)x3	AADAT, ANXA10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic

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