ClinVar for Gene (Select 57148) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248361	NC_000020.10:g.(?_37060620)_(37581163_?)dup	PPP1R16B, ARHGAP40 +6 more	Duplication	not provided	GUncertain significance
Select item 3151304	NM_020336.4(RALGAPB):c.865A>G (p.Met289Val)	RALGAPB (M289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151303	NM_020336.4(RALGAPB):c.728C>G (p.Ala243Gly)	RALGAPB (A243G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151302	NM_020336.4(RALGAPB):c.479G>A (p.Arg160Gln)	RALGAPB (R160Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151301	NM_020336.4(RALGAPB):c.4283G>C (p.Arg1428Pro)	RALGAPB (R1425P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151300	NM_020336.4(RALGAPB):c.4249A>C (p.Ile1417Leu)	RALGAPB (I1414L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151299	NM_020336.4(RALGAPB):c.3865A>G (p.Met1289Val)	RALGAPB (M1286V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151298	NM_020336.4(RALGAPB):c.3373G>A (p.Glu1125Lys)	RALGAPB (E1121K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151297	NM_020336.4(RALGAPB):c.3368T>G (p.Leu1123Arg)	RALGAPB (L1119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151296	NM_020336.4(RALGAPB):c.3064T>G (p.Ser1022Ala)	RALGAPB (S1022A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151294	NM_020336.4(RALGAPB):c.2788A>G (p.Thr930Ala)	RALGAPB (T926A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151293	NM_020336.4(RALGAPB):c.2327A>G (p.Gln776Arg)	RALGAPB (Q772R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151292	NM_020336.4(RALGAPB):c.1661A>G (p.Tyr554Cys)	RALGAPB (Y554C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151291	NM_020336.4(RALGAPB):c.1213C>T (p.His405Tyr)	RALGAPB (H405Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151290	NM_020336.4(RALGAPB):c.1180G>A (p.Ala394Thr)	RALGAPB (A394T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055608	NM_020336.4(RALGAPB):c.554-10T>C	RALGAPB	Single nucleotide variant (intron variant)	RALGAPB-related disorder	GBenign
Select item 3055307	NM_020336.4(RALGAPB):c.2430G>T (p.Val810=)	RALGAPB	Single nucleotide variant (synonymous variant)	RALGAPB-related disorder	GBenign
Select item 3051615	NM_020336.4(RALGAPB):c.4049G>A (p.Arg1350His)	RALGAPB (R1347H +1 more)	Single nucleotide variant (missense variant)	RALGAPB-related disorder	GLikely benign
Select item 3049755	NM_020336.4(RALGAPB):c.3962C>T (p.Pro1321Leu)	RALGAPB (P1318L +1 more)	Single nucleotide variant (missense variant)	RALGAPB-related disorder	GBenign
Select item 3049073	NM_020336.4(RALGAPB):c.4292-15CT[2]	RALGAPB	Microsatellite (intron variant)	RALGAPB-related disorder	GLikely benign
Select item 3048881	NM_020336.4(RALGAPB):c.826A>C (p.Asn276His)	RALGAPB (N276H)	Single nucleotide variant (missense variant)	RALGAPB-related disorder	GBenign
Select item 3044923	NM_020336.4(RALGAPB):c.3571C>T (p.His1191Tyr)	RALGAPB (H1187Y +1 more)	Single nucleotide variant (missense variant)	RALGAPB-related disorder	GBenign
Select item 3043684	NM_020336.4(RALGAPB):c.4006C>T (p.Pro1336Ser)	RALGAPB (P1333S +1 more)	Single nucleotide variant (missense variant)	RALGAPB-related disorder	GBenign
Select item 3039494	NM_020336.4(RALGAPB):c.3852T>C (p.Asp1284=)	RALGAPB	Single nucleotide variant (synonymous variant)	RALGAPB-related disorder	GBenign
Select item 3037681	NM_020336.4(RALGAPB):c.2994A>G (p.Ala998=)	RALGAPB	Single nucleotide variant (synonymous variant)	RALGAPB-related disorder	GBenign
Select item 3033905	NM_020336.4(RALGAPB):c.1284A>G (p.Glu428=)	RALGAPB	Single nucleotide variant (synonymous variant)	RALGAPB-related disorder	GBenign
Select item 3033737	NM_020336.4(RALGAPB):c.4359T>C (p.Ser1453=)	RALGAPB	Single nucleotide variant (synonymous variant)	RALGAPB-related disorder	GBenign
Select item 3033190	NM_020336.4(RALGAPB):c.2189C>T (p.Thr730Met)	RALGAPB (T730M)	Single nucleotide variant (missense variant)	RALGAPB-related disorder	GBenign
Select item 3032051	NM_020336.4(RALGAPB):c.251A>G (p.Lys84Arg)	RALGAPB (K84R)	Single nucleotide variant (missense variant)	RALGAPB-related disorder	GUncertain significance
Select item 2689858	NM_020336.4(RALGAPB):c.3920C>G (p.Pro1307Arg)	RALGAPB (P1304R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652319	NM_020336.4(RALGAPB):c.1832G>A (p.Arg611Gln)	RALGAPB (R611Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631650	NM_020336.4(RALGAPB):c.811C>G (p.Pro271Ala)	RALGAPB (P271A)	Single nucleotide variant (missense variant)	RALGAPB-related disorder	GUncertain significance
Select item 2622539	NM_020336.4(RALGAPB):c.3698A>T (p.Glu1233Val)	RALGAPB (E1230V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618434	NM_020336.4(RALGAPB):c.2965C>G (p.Gln989Glu)	RALGAPB (Q985E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614490	NM_020336.4(RALGAPB):c.4100G>C (p.Ser1367Thr)	RALGAPB (S1367T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611293	NM_020336.4(RALGAPB):c.2408G>A (p.Arg803Gln)	RALGAPB (R799Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559451	NM_020336.4(RALGAPB):c.4286C>T (p.Ala1429Val)	RALGAPB (A1429V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558538	NM_020336.4(RALGAPB):c.1374C>A (p.His458Gln)	RALGAPB (H458Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552239	NM_020336.4(RALGAPB):c.3388C>T (p.Arg1130Cys)	RALGAPB (R1126C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535584	NM_020336.4(RALGAPB):c.37C>G (p.Gln13Glu)	RALGAPB (Q13E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535135	NM_020336.4(RALGAPB):c.3545T>C (p.Val1182Ala)	RALGAPB (V1182A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526327	NM_020336.4(RALGAPB):c.1151G>A (p.Arg384Gln)	RALGAPB (R384Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490976	NM_020336.4(RALGAPB):c.2732G>A (p.Gly911Asp)	RALGAPB (G907D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486873	NM_020336.4(RALGAPB):c.3452A>G (p.Tyr1151Cys)	RALGAPB (Y1147C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485672	NM_020336.4(RALGAPB):c.3835A>G (p.Asn1279Asp)	RALGAPB (N1279D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459409	NM_020336.4(RALGAPB):c.2627A>G (p.Asn876Ser)	RALGAPB (N872S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2429987	NM_020336.4(RALGAPB):c.2740C>T (p.Pro914Ser)	RALGAPB (P910S +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2404353	NM_020336.4(RALGAPB):c.458G>A (p.Arg153His)	RALGAPB (R153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393044	NM_020336.4(RALGAPB):c.3199G>A (p.Ala1067Thr)	RALGAPB (A1063T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378908	NM_020336.4(RALGAPB):c.3528A>C (p.Gln1176His)	RALGAPB (Q1172H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353768	NM_020336.4(RALGAPB):c.544A>G (p.Thr182Ala)	RALGAPB (T182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351374	NM_020336.4(RALGAPB):c.748C>T (p.Arg250Cys)	RALGAPB (R250C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344025	NM_020336.4(RALGAPB):c.3079C>G (p.Pro1027Ala)	RALGAPB (P1023A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333877	NM_020336.4(RALGAPB):c.3706T>C (p.Ser1236Pro)	RALGAPB (S1233P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326276	NM_020336.4(RALGAPB):c.4255C>T (p.Leu1419Phe)	RALGAPB (L1419F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320226	NM_020336.4(RALGAPB):c.2087T>C (p.Leu696Ser)	RALGAPB (L696S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318327	NM_020336.4(RALGAPB):c.1306C>G (p.Arg436Gly)	RALGAPB (R436G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318260	NM_020336.4(RALGAPB):c.4481C>A (p.Ser1494Tyr)	RALGAPB (S1491Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313343	NM_020336.4(RALGAPB):c.1755T>A (p.Phe585Leu)	RALGAPB (F585L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301138	NM_020336.4(RALGAPB):c.3878C>T (p.Pro1293Leu)	RALGAPB (P1290L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273869	NM_020336.4(RALGAPB):c.1471A>G (p.Thr491Ala)	RALGAPB (T491A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241364	NM_020336.4(RALGAPB):c.623C>G (p.Thr208Ser)	RALGAPB (T208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237292	NM_020336.4(RALGAPB):c.1093G>A (p.Val365Met)	RALGAPB (V365M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218653	NM_020336.4(RALGAPB):c.3439G>T (p.Asp1147Tyr)	RALGAPB (D1143Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708254	NM_020336.4(RALGAPB):c.4142+1G>A	RALGAPB	Single nucleotide variant (splice donor variant)	Intellectual disability	GPathogenic
Select item 1675855	NM_020336.4(RALGAPB):c.2870C>T (p.Ala957Val)	RALGAPB (A953V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 788838	NM_020336.4(RALGAPB):c.4095G>A (p.Glu1365=)	RALGAPB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689661	NM_020336.4(RALGAPB):c.457C>T (p.Arg153Cys)	RALGAPB (R153C)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 623413	NM_020336.4(RALGAPB):c.1258T>C (p.Ser420Pro)	RALGAPB (S420P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 427836	NM_020336.3(RALGAPB):c.[1918A>G];[2324G>T]			Septo-optic dysplasia sequence +1 more	GLikely pathogenic
Select item 370037	NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu)	RALGAPB (R775L +1 more)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence	GLikely pathogenic
Select item 370036	NM_020336.4(RALGAPB):c.1918A>G (p.Lys640Glu)	RALGAPB (K640E)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 78