ClinVar for Gene (Select 57504) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3213278	NM_001330442.2(MTA3):c.488T>C (p.Met163Thr)	MTA3 (M163T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213276	NM_001330442.2(MTA3):c.481C>T (p.Pro161Ser)	MTA3 (P105S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213273	NM_001330442.2(MTA3):c.412C>G (p.Pro138Ala)	MTA3 (P138A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213259	NM_001330442.2(MTA3):c.203A>C (p.Glu68Ala)	MTA3 (E68A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213250	NM_001330442.2(MTA3):c.1345G>C (p.Gly449Arg)	MTA3 (G385R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213235	NM_001330442.2(MTA3):c.1044C>G (p.Asn348Lys)	MTA3 (N291K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 2594805	NM_001330442.2(MTA3):c.1050A>G (p.Ile350Met)	MTA3 (I286M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560239	NM_001330442.2(MTA3):c.1462C>T (p.Arg488Trp)	MTA3 (R488W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536161	NM_001330442.2(MTA3):c.1121T>G (p.Leu374Arg)	MTA3 (L310R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525631	NM_001330442.2(MTA3):c.1490T>G (p.Phe497Cys)	MTA3 (F497C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482105	NM_001330442.2(MTA3):c.361T>G (p.Leu121Val)	MTA3 (L121V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459669	NM_001330442.2(MTA3):c.197T>C (p.Ile66Thr)	MTA3 (I66T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2363871	NM_001330442.2(MTA3):c.167T>C (p.Ile56Thr)	MTA3 (I56T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2341599	NM_001330442.2(MTA3):c.535G>A (p.Val179Ile)	MTA3 (V123I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315547	NM_001330442.2(MTA3):c.20G>T (p.Arg7Leu)	LOC129933585, MTA3 (R7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289352	NM_001330442.2(MTA3):c.1439G>A (p.Arg480His)	MTA3 (R479H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282572	NM_001330442.2(MTA3):c.1193T>C (p.Met398Thr)	MTA3 (M397T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1526452	GRCh37/hg19 2p22.1-21(chr2:39751028-43437611)	COX7A2L, EML4 +9 more	Copy number loss	not specified	GUncertain significance
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	EML4, FAM98A +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 979355	GRCh37/hg19 2p21(chr2:42706834-42886431)x1	MTA3, KCNG3	Copy number loss	not provided	GUncertain significance
Select item 684982	GRCh37/hg19 2p21(chr2:42575687-42838431)x1	COX7A2L, KCNG3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 599574	NM_001330442.2(MTA3):c.635G>A (p.Cys212Tyr)	MTA3 (C212Y +1 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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 429039	NC_000002.11:g.38121110_47669522inv	GALM, GEMIN6 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 154031	GRCh38/hg38 2p21(chr2:42347475-42611298)x1	COX7A2L, KCNG3 +13 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 59144	GRCh38/hg38 2p21(chr2:41999414-42915744)x3	OXER1, PKDCC +53 more	Copy number gain	See cases	GPathogenic
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40