ClinVar for Gene (Select 5924) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312934	NM_006909.3(RASGRF2):c.2728A>G (p.Ile910Val)	RASGRF2 (I910V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312933	NM_006909.3(RASGRF2):c.2527G>T (p.Asp843Tyr)	RASGRF2 (D843Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312932	NM_006909.3(RASGRF2):c.1280A>C (p.His427Pro)	RASGRF2 (H427P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312931	NM_006909.3(RASGRF2):c.597A>C (p.Gln199His)	RASGRF2 (Q199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312930	NM_006909.3(RASGRF2):c.3484G>T (p.Ala1162Ser)	RASGRF2 (A1162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312929	NM_006909.3(RASGRF2):c.2503G>C (p.Gly835Arg)	RASGRF2 (G835R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312928	NM_006909.3(RASGRF2):c.2570G>A (p.Arg857Gln)	RASGRF2 (R857Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151845	NM_006909.3(RASGRF2):c.558T>A (p.Asn186Lys)	RASGRF2 (N186K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151844	NM_006909.3(RASGRF2):c.523A>G (p.Ile175Val)	RASGRF2 (I175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151843	NM_006909.3(RASGRF2):c.3589C>G (p.Gln1197Glu)	RASGRF2 (Q1197E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151842	NM_006909.3(RASGRF2):c.3380A>T (p.Gln1127Leu)	RASGRF2 (Q1127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151840	NM_006909.3(RASGRF2):c.3043C>T (p.His1015Tyr)	RASGRF2 (H1015Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151839	NM_006909.3(RASGRF2):c.3005C>T (p.Ser1002Leu)	RASGRF2 (S1002L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151838	NM_006909.3(RASGRF2):c.2669G>T (p.Gly890Val)	RASGRF2 (G890V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151837	NM_006909.3(RASGRF2):c.2524G>A (p.Ala842Thr)	RASGRF2 (A842T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151836	NM_006909.3(RASGRF2):c.182G>A (p.Arg61His)	RASGRF2 (R61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151835	NM_006909.3(RASGRF2):c.1487T>G (p.Phe496Cys)	RASGRF2 (F496C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151834	NM_006909.3(RASGRF2):c.106G>C (p.Ala36Pro)	RASGRF2, RASGRF2-AS1 (A36P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2624225	NM_006909.3(RASGRF2):c.1721A>G (p.Gln574Arg)	RASGRF2 (Q574R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624044	NM_006909.3(RASGRF2):c.550G>A (p.Ala184Thr)	RASGRF2 (A184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621954	NM_006909.3(RASGRF2):c.721A>C (p.Met241Leu)	RASGRF2 (M241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621858	NM_006909.3(RASGRF2):c.1634A>G (p.Gln545Arg)	RASGRF2 (Q545R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617836	NM_006909.3(RASGRF2):c.1063C>G (p.Gln355Glu)	RASGRF2 (Q355E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615531	NM_006909.3(RASGRF2):c.3070G>A (p.Glu1024Lys)	RASGRF2 (E1024K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615051	NM_006909.3(RASGRF2):c.1267T>C (p.Ser423Pro)	RASGRF2 (S423P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613105	NM_006909.3(RASGRF2):c.1829A>G (p.His610Arg)	RASGRF2 (H610R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595535	NM_006909.3(RASGRF2):c.679A>T (p.Thr227Ser)	RASGRF2 (T227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593437	NM_006909.3(RASGRF2):c.13G>C (p.Val5Leu)	RASGRF2, RASGRF2-AS1 (V5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570496	NM_006909.3(RASGRF2):c.2050G>A (p.Asp684Asn)	RASGRF2 (D684N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559271	NM_006909.3(RASGRF2):c.2522C>T (p.Ala841Val)	RASGRF2 (A841V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534274	NM_006909.3(RASGRF2):c.1850G>A (p.Arg617His)	RASGRF2 (R617H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525195	NM_006909.3(RASGRF2):c.3208C>T (p.Arg1070Cys)	RASGRF2 (R1070C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516317	NM_006909.3(RASGRF2):c.1225A>G (p.Arg409Gly)	RASGRF2 (R409G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508473	NM_006909.3(RASGRF2):c.3130A>T (p.Met1044Leu)	RASGRF2 (M1044L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474826	NM_006909.3(RASGRF2):c.2141T>C (p.Val714Ala)	RASGRF2 (V714A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469688	NM_006909.3(RASGRF2):c.2492C>T (p.Ala831Val)	RASGRF2 (A831V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469500	NM_006909.3(RASGRF2):c.1385G>T (p.Arg462Leu)	RASGRF2 (R462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469209	NM_006909.3(RASGRF2):c.2866C>G (p.Leu956Val)	RASGRF2 (L956V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405130	NM_006909.3(RASGRF2):c.2516C>A (p.Ser839Tyr)	RASGRF2 (S839Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405109	NM_006909.3(RASGRF2):c.3112G>A (p.Glu1038Lys)	RASGRF2 (E1038K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392528	NM_006909.3(RASGRF2):c.3188A>G (p.Asn1063Ser)	RASGRF2 (N1063S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383603	NM_006909.3(RASGRF2):c.2731C>T (p.Arg911Trp)	RASGRF2 (R911W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383106	NM_006909.3(RASGRF2):c.544A>G (p.Ile182Val)	RASGRF2 (I182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374420	NM_006909.3(RASGRF2):c.2633C>T (p.Pro878Leu)	RASGRF2 (P878L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342470	NM_006909.3(RASGRF2):c.3520G>A (p.Glu1174Lys)	RASGRF2 (E1174K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325992	NM_006909.3(RASGRF2):c.3434A>G (p.Asn1145Ser)	RASGRF2 (N1145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314986	NM_006909.3(RASGRF2):c.2776G>A (p.Val926Ile)	RASGRF2 (V926I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299787	NM_006909.3(RASGRF2):c.1211A>G (p.His404Arg)	RASGRF2 (H404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277400	NM_006909.3(RASGRF2):c.33C>G (p.His11Gln)	RASGRF2, RASGRF2-AS1 (H11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269565	NM_006909.3(RASGRF2):c.3625G>A (p.Ala1209Thr)	RASGRF2 (A1209T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2269270	NM_006909.3(RASGRF2):c.2701G>A (p.Glu901Lys)	RASGRF2 (E901K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248778	NM_006909.3(RASGRF2):c.2065C>A (p.Pro689Thr)	RASGRF2 (P689T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235029	NM_006909.3(RASGRF2):c.3346T>C (p.Ser1116Pro)	LOC129994142, RASGRF2 (S1116P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231702	NM_006909.3(RASGRF2):c.812G>A (p.Arg271Gln)	RASGRF2 (R271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 814705	GRCh37/hg19 5q14.1(chr5:80423020-80485467)x1	RASGRF2	Copy number loss	not provided	GLikely benign
Select item 814704	GRCh37/hg19 5q14.1(chr5:80323403-80577511)x3	RASGRF2, CKMT2	Copy number gain	not provided	GUncertain significance
Select item 814701	GRCh37/hg19 5q14.1(chr5:79528733-80545287)x3	SPZ1, MTRNR2L2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 787037	NM_006909.3(RASGRF2):c.888-4A>G	RASGRF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780545	NM_006909.3(RASGRF2):c.2596+4A>G	RASGRF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687686	GRCh37/hg19 5q14.1(chr5:80501001-80600333)x3	CKMT2, RASGRF2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687261	GRCh37/hg19 5q14.1(chr5:79985830-80348469)x3	MSH3, RASGRF2	Copy number gain	not provided	GUncertain significance
Select item 684903	GRCh37/hg19 5q14.1(chr5:79664621-80767791)x3	RASGRF2, SSBP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563083	GRCh37/hg19 5q14.1(chr5:80080727-80490942)x3	MSH3, RASGRF2	Copy number gain	not provided	GUncertain significance
Select item 563082	GRCh37/hg19 5q14.1(chr5:79992417-80346470)x3	RASGRF2, MSH3	Copy number gain	not provided	GLikely benign
Select item 563081	GRCh37/hg19 5q14.1(chr5:79625636-80884586)x3	FAM151B, MSH3 +9 more	Copy number gain	not provided	GUncertain significance
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 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 395343	GRCh37/hg19 5q14.1(chr5:79678575-80868550)x3	ACOT12, ANKRD34B +9 more	Copy number gain	See cases	GUncertain significance
Select item 58788	GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1	ANKRD34B, CMYA5 +40 more	Copy number loss	See cases	GUncertain significance
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 73