ClinVar for Gene (Select 153769) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318131	NM_152550.4(SH3RF2):c.1360C>A (p.Leu454Ile)	SH3RF2 (L454I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318130	NM_152550.4(SH3RF2):c.2017G>C (p.Ala673Pro)	SH3RF2 (A673P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318129	NM_152550.4(SH3RF2):c.1748C>G (p.Thr583Arg)	SH3RF2 (T583R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318128	NM_152550.4(SH3RF2):c.1784C>T (p.Ser595Phe)	SH3RF2 (S595F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318126	NM_152550.4(SH3RF2):c.1376C>T (p.Thr459Met)	SH3RF2 (T459M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318125	NM_152550.4(SH3RF2):c.424G>A (p.Gly142Ser)	SH3RF2 (G142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318124	NM_152550.4(SH3RF2):c.343C>T (p.Arg115Trp)	SH3RF2 (R115W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318123	NM_152550.4(SH3RF2):c.595G>A (p.Asp199Asn)	SH3RF2 (D199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3236557	NM_152550.4(SH3RF2):c.491del (p.Gln164fs)	SH3RF2 (Q164fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3161402	NM_152550.4(SH3RF2):c.757G>A (p.Ala253Thr)	SH3RF2 (A253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161400	NM_152550.4(SH3RF2):c.632G>T (p.Cys211Phe)	SH3RF2 (C211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161399	NM_152550.4(SH3RF2):c.610G>A (p.Asp204Asn)	SH3RF2 (D204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161398	NM_152550.4(SH3RF2):c.607A>G (p.Lys203Glu)	SH3RF2 (K203E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161397	NM_152550.4(SH3RF2):c.44G>A (p.Cys15Tyr)	SH3RF2 (C15Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161396	NM_152550.4(SH3RF2):c.305G>C (p.Ser102Thr)	SH3RF2 (S102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161395	NM_152550.4(SH3RF2):c.289C>A (p.Gln97Lys)	SH3RF2 (Q97K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161394	NM_152550.4(SH3RF2):c.243C>G (p.Ser81Arg)	SH3RF2 (S81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161393	NM_152550.4(SH3RF2):c.1925C>A (p.Thr642Asn)	SH3RF2 (T642N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161392	NM_152550.4(SH3RF2):c.179T>C (p.Ile60Thr)	SH3RF2 (I60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161391	NM_152550.4(SH3RF2):c.1787C>T (p.Ala596Val)	SH3RF2 (A596V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161389	NM_152550.4(SH3RF2):c.1588A>G (p.Ile530Val)	SH3RF2 (I530V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161388	NM_152550.4(SH3RF2):c.1585G>A (p.Gly529Arg)	SH3RF2 (G529R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161386	NM_152550.4(SH3RF2):c.1181A>G (p.His394Arg)	SH3RF2 (H394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 2598119	NM_152550.4(SH3RF2):c.674G>A (p.Arg225Gln)	SH3RF2 (R225Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554624	NM_152550.4(SH3RF2):c.784G>A (p.Gly262Ser)	SH3RF2 (G262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525498	NM_152550.4(SH3RF2):c.1366A>G (p.Thr456Ala)	SH3RF2 (T456A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523028	NM_152550.4(SH3RF2):c.1761G>C (p.Arg587Ser)	SH3RF2 (R587S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509010	NM_152550.4(SH3RF2):c.1191T>G (p.Asp397Glu)	SH3RF2 (D397E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508899	NM_152550.4(SH3RF2):c.314A>C (p.Asn105Thr)	SH3RF2 (N105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474831	NM_152550.4(SH3RF2):c.1836G>C (p.Glu612Asp)	SH3RF2 (E612D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474604	NM_152550.4(SH3RF2):c.1691C>T (p.Ser564Leu)	SH3RF2 (S564L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457102	NM_152550.4(SH3RF2):c.1297A>G (p.Asn433Asp)	SH3RF2 (N433D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407202	NM_152550.4(SH3RF2):c.638C>T (p.Thr213Ile)	SH3RF2 (T213I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402888	NM_152550.4(SH3RF2):c.142C>T (p.Arg48Trp)	SH3RF2 (R48W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400158	NM_152550.4(SH3RF2):c.1537C>T (p.Arg513Trp)	SH3RF2 (R513W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387860	NM_152550.4(SH3RF2):c.1488A>C (p.Arg496Ser)	SH3RF2 (R496S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385862	NM_152550.4(SH3RF2):c.1499G>A (p.Gly500Asp)	SH3RF2 (G500D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381684	NM_152550.4(SH3RF2):c.148C>T (p.Pro50Ser)	SH3RF2 (P50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378246	NM_152550.4(SH3RF2):c.1306G>A (p.Val436Ile)	SH3RF2 (V436I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369862	NM_152550.4(SH3RF2):c.1775G>A (p.Trp592Ter)	SH3RF2 (W592*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2356906	NM_152550.4(SH3RF2):c.1730C>T (p.Thr577Met)	SH3RF2 (T577M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351376	NM_152550.4(SH3RF2):c.1348C>T (p.Arg450Trp)	SH3RF2 (R450W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345386	NM_152550.4(SH3RF2):c.1987G>A (p.Gly663Arg)	SH3RF2 (G663R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334147	NM_152550.4(SH3RF2):c.656T>G (p.Ile219Ser)	SH3RF2 (I219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327699	NM_152550.4(SH3RF2):c.316C>T (p.Pro106Ser)	SH3RF2 (P106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287017	NM_152550.4(SH3RF2):c.1255A>T (p.Arg419Trp)	SH3RF2 (R419W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273874	NM_152550.4(SH3RF2):c.653A>G (p.Asp218Gly)	SH3RF2 (D218G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270341	NM_152550.4(SH3RF2):c.667A>C (p.Ile223Leu)	SH3RF2 (I223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269378	NM_152550.4(SH3RF2):c.1013C>A (p.Thr338Asn)	SH3RF2 (T338N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257017	NM_152550.4(SH3RF2):c.1768G>A (p.Glu590Lys)	SH3RF2 (E590K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219590	NM_152550.4(SH3RF2):c.1600G>A (p.Val534Met)	SH3RF2 (V534M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210912	NM_152550.4(SH3RF2):c.1907T>A (p.Ile636Asn)	SH3RF2 (I636N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980743	GRCh37/hg19 5q32(chr5:145313919-145540985)x3	LARS1, PLAC8L1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980742	GRCh37/hg19 5q32(chr5:145179409-145538047)x3	GRXCR2, LARS1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 635929	Single allele	SH3RF2, TCERG1 +8 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	HARS1, HARS2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 70