51455[Gene ID] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 60183	GRCh38/hg38 2q11.2(chr2:98787057-100785053)x1	AFF3, C2orf15 +56 more	Copy number loss	See cases	GPathogenic
Select item 147769	GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3	AFF3, CHST10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 2327743	NM_016316.4(REV1):c.3664G>C (p.Glu1222Gln)	REV1 (E1221Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313770	NM_016316.4(REV1):c.3571G>A (p.Val1191Met)	REV1 (V1190M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313775	NM_016316.4(REV1):c.3547A>G (p.Met1183Val)	REV1 (M1112V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330804	NM_016316.4(REV1):c.3497A>G (p.Asn1166Ser)	REV1 (N1095S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2229753	NM_016316.4(REV1):c.3493T>G (p.Phe1165Val)	REV1 (F1165V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530528	NM_016316.4(REV1):c.3491A>C (p.Glu1164Ala)	REV1 (E674A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207999	NM_016316.4(REV1):c.3427A>G (p.Ser1143Gly)	REV1 (S620G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2205393	NM_016316.4(REV1):c.3403A>G (p.Thr1135Ala)	REV1 (T612A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779405	NM_016316.4(REV1):c.3392T>A (p.Leu1131His)	REV1 (L1060H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3313783	NM_016316.4(REV1):c.3377A>G (p.Lys1126Arg)	REV1 (K1126R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153218	NM_016316.4(REV1):c.3375G>C (p.Glu1125Asp)	REV1 (E602D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153217	NM_016316.4(REV1):c.3241G>A (p.Gly1081Ser)	REV1 (G1010S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3153216	NM_016316.4(REV1):c.3188A>G (p.His1063Arg)	REV1 (H1099R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153215	NM_016316.4(REV1):c.3144C>A (p.His1048Gln)	LOC126806281, REV1 (H1047Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460327	NM_016316.4(REV1):c.3115A>G (p.Arg1039Gly)	LOC126806281, REV1 (R968G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153214	NM_016316.4(REV1):c.3067G>C (p.Ala1023Pro)	LOC126806281, REV1 (A1023P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708522	NM_016316.4(REV1):c.3033A>G (p.Pro1011=)	LOC126806281, REV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2215506	NM_016316.4(REV1):c.2974C>A (p.Gln992Lys)	LOC126806281, REV1 (Q921K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313777	NM_016316.4(REV1):c.2869G>A (p.Val957Ile)	REV1 (V434I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323106	NM_016316.4(REV1):c.2830G>A (p.Glu944Lys)	REV1 (E873K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604035	NM_016316.4(REV1):c.2741A>G (p.Asn914Ser)	REV1 (N913S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347531	NM_016316.4(REV1):c.2720C>A (p.Ala907Asp)	REV1 (A417D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399067	NM_016316.4(REV1):c.2707G>C (p.Asp903His)	REV1 (D903H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341382	NM_016316.4(REV1):c.2696C>T (p.Pro899Leu)	REV1 (P376L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298303	NM_016316.4(REV1):c.2663G>C (p.Cys888Ser)	REV1 (C888S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365607	NM_016316.4(REV1):c.2644T>C (p.Ser882Pro)	REV1 (S359P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3313776	NM_016316.4(REV1):c.2642T>G (p.Ile881Arg)	REV1 (I810R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256840	NM_016316.4(REV1):c.2621G>A (p.Arg874Gln)	REV1 (R384Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559028	NM_016316.4(REV1):c.2571A>C (p.Gln857His)	REV1 (Q367H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153213	NM_016316.4(REV1):c.2567T>A (p.Phe856Tyr)	REV1 (F333Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153212	NM_016316.4(REV1):c.2557C>T (p.Arg853Cys)	REV1 (R852C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604521	NM_016316.4(REV1):c.2530C>G (p.His844Asp)	REV1 (H354D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313772	NM_016316.4(REV1):c.2461G>A (p.Val821Met)	REV1 (V331M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313778	NM_016316.4(REV1):c.2431A>G (p.Ile811Val)	REV1 (I811V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474679	NM_016316.4(REV1):c.2406C>A (p.Asn802Lys)	REV1 (N312K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292673	NM_016316.4(REV1):c.2365G>A (p.Ala789Thr)	REV1 (A825T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313779	NM_016316.4(REV1):c.2333A>G (p.Asp778Gly)	REV1 (D707G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618031	NM_016316.4(REV1):c.2293C>G (p.Pro765Ala)	REV1 (P801A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153211	NM_016316.4(REV1):c.2255G>A (p.Arg752His)	REV1 (R752H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325555	NM_016316.4(REV1):c.2132C>T (p.Ser711Phe)	REV1 (S710F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594740	NM_016316.4(REV1):c.2087G>A (p.Arg696His)	REV1 (R206H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153210	NM_016316.4(REV1):c.2047T>C (p.Phe683Leu)	REV1 (F193L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595721	NM_016316.4(REV1):c.2033A>G (p.Lys678Arg)	REV1 (K155R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356100	NM_016316.4(REV1):c.1972T>C (p.Ser658Pro)	REV1 (S657P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153209	NM_016316.4(REV1):c.1969G>A (p.Glu657Lys)	REV1 (E167K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153208	NM_016316.4(REV1):c.1750A>G (p.Lys584Glu)	REV1 (K583E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153207	NM_016316.4(REV1):c.1477T>G (p.Ser493Ala)	REV1 (S422A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153206	NM_016316.4(REV1):c.1343G>T (p.Ser448Ile)	REV1 (S378I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491350	NM_016316.4(REV1):c.1310C>T (p.Pro437Leu)	REV1 (P437L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153205	NM_016316.4(REV1):c.1253G>T (p.Cys418Phe)	REV1 (C348F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153204	NM_016316.4(REV1):c.1253G>A (p.Cys418Tyr)	REV1 (C348Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558155	NM_016316.4(REV1):c.1117A>G (p.Asn373Asp)	REV1 (N373D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379758	NM_016316.4(REV1):c.1105A>C (p.Thr369Pro)	REV1 (T369P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3313773	NM_016316.4(REV1):c.1075C>T (p.His359Tyr)	REV1 (H289Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153203	NM_016316.4(REV1):c.1015G>C (p.Val339Leu)	REV1 (V269L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153202	NM_016316.4(REV1):c.1003G>A (p.Ala335Thr)	REV1 (A335T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153221	NM_016316.4(REV1):c.929A>G (p.Asn310Ser)	REV1 (N240S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269703	NM_016316.4(REV1):c.869G>A (p.Arg290Gln)	REV1 (R220Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3313774	NM_016316.4(REV1):c.868C>T (p.Arg290Trp)	REV1 (R290W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2620801	NM_016316.4(REV1):c.848C>G (p.Thr283Ser)	REV1 (T283S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297409	NM_016316.4(REV1):c.845G>T (p.Ser282Ile)	REV1 (S282I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377153	NM_016316.4(REV1):c.838C>G (p.Gln280Glu)	REV1 (Q280E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274782	NM_016316.4(REV1):c.821G>C (p.Cys274Ser)	REV1 (C204S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 740480	NM_016316.4(REV1):c.780G>A (p.Glu260=)	REV1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 156800	NM_016316.4(REV1):c.351-3232_770dup	REV1	Duplication (splice acceptor variant +1 more)	Normal pregnancy	Gnot provided
Select item 2602548	NM_016316.4(REV1):c.733A>G (p.Met245Val)	REV1 (M245V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3313780	NM_016316.4(REV1):c.727G>A (p.Val243Met)	REV1 (V173M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153220	NM_016316.4(REV1):c.673T>C (p.Phe225Leu)	REV1 (F225L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2400593	NM_016316.4(REV1):c.657A>C (p.Arg219Ser)	REV1 (R149S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153219	NM_016316.4(REV1):c.558G>A (p.Met186Ile)	REV1 (M186I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313125	NM_016316.4(REV1):c.551A>G (p.Asn184Ser)	REV1 (N114S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239741	NM_016316.4(REV1):c.544A>C (p.Lys182Gln)	REV1 (K182Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259627	NM_016316.4(REV1):c.514G>A (p.Val172Ile)	REV1 (V102I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 156801	NM_016316.4(REV1):c.351-3232_513dup	REV1	Duplication (splice acceptor variant +1 more)	Large for gestational age +1 more	Gnot provided
Select item 2227163	NM_016316.4(REV1):c.478A>G (p.Ile160Val)	REV1 (I160V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3313784	NM_016316.4(REV1):c.401A>C (p.Lys134Thr)	REV1 (K64T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559967	NM_016316.4(REV1):c.382C>G (p.Pro128Ala)	REV1 (P128A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3313781	NM_016316.4(REV1):c.334G>A (p.Glu112Lys)	REV1 (E42K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399197	NM_016316.4(REV1):c.101G>A (p.Arg34Gln)	REV1 (R34Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 814286	GRCh37/hg19 2q11.2(chr2:99870148-100416209)x3	AFF3, LYG1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688876	GRCh37/hg19 2q11.2(chr2:99542665-100190293)x1	AFF3, C2orf15 +10 more	Copy number loss	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562510	GRCh37/hg19 2q11.2(chr2:100002289-100097976)x1	EIF5B, REV1	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic

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Items: 100