THUMPD2[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 2600001	NM_025264.5(THUMPD2):c.1496A>T (p.His499Leu)	THUMPD2 (H265L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2494366	NM_025264.5(THUMPD2):c.1391A>G (p.Lys464Arg)	THUMPD2 (K464R +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2319327	NM_025264.5(THUMPD2):c.1364C>T (p.Ser455Leu)	THUMPD2 (S346L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2523650	NM_025264.5(THUMPD2):c.1306C>A (p.Pro436Thr)	THUMPD2 (P343T +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2236508	NM_025264.5(THUMPD2):c.1302T>A (p.Asp434Glu)	THUMPD2 (D200E +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3177261	NM_025264.5(THUMPD2):c.1280A>G (p.Asn427Ser)	THUMPD2 (N318S +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3177260	NM_025264.5(THUMPD2):c.1241G>A (p.Arg414Lys)	THUMPD2 (R321K +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2266030	NM_025264.5(THUMPD2):c.1171C>A (p.Leu391Ile)	THUMPD2 (L298I +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2616203	NM_025264.5(THUMPD2):c.1102G>A (p.Val368Ile)	THUMPD2 (V134I +3 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3177268	NM_025264.5(THUMPD2):c.983C>G (p.Ala328Gly)	THUMPD2 (A328G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264125	NM_025264.5(THUMPD2):c.974A>G (p.Tyr325Cys)	THUMPD2 (Y232C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263346	NM_025264.5(THUMPD2):c.929G>A (p.Gly310Glu)	THUMPD2 (G76E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177267	NM_025264.5(THUMPD2):c.918G>T (p.Met306Ile)	THUMPD2 (M197I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326037	NM_025264.5(THUMPD2):c.917T>C (p.Met306Thr)	THUMPD2 (M213T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485064	NM_025264.5(THUMPD2):c.893C>G (p.Ala298Gly)	THUMPD2 (A189G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177266	NM_025264.5(THUMPD2):c.886A>C (p.Ile296Leu)	THUMPD2 (I187L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410415	NM_025264.5(THUMPD2):c.883G>C (p.Asp295His)	THUMPD2 (D202H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354187	NM_025264.5(THUMPD2):c.868A>G (p.Met290Val)	THUMPD2 (M197V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177265	NM_025264.5(THUMPD2):c.860C>T (p.Ala287Val)	THUMPD2 (A178V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609473	NM_025264.5(THUMPD2):c.854C>T (p.Thr285Ile)	THUMPD2 (T176I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359903	NM_025264.5(THUMPD2):c.835A>G (p.Thr279Ala)	THUMPD2 (T186A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326038	NM_025264.5(THUMPD2):c.821G>C (p.Arg274Thr)	THUMPD2 (R274T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252763	NM_025264.5(THUMPD2):c.768T>G (p.Asn256Lys)	THUMPD2 (N163K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536709	NM_025264.5(THUMPD2):c.743A>C (p.Gln248Pro)	THUMPD2 (Q14P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326039	NM_025264.5(THUMPD2):c.617C>T (p.Thr206Ile)	THUMPD2 (T113I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3177264	NM_025264.5(THUMPD2):c.599A>T (p.His200Leu)	THUMPD2 (H200L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2617775	NM_025264.5(THUMPD2):c.587C>T (p.Ala196Val)	THUMPD2 (A103V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3177263	NM_025264.5(THUMPD2):c.385G>T (p.Asp129Tyr)	THUMPD2 (D129Y +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2594675	NM_025264.5(THUMPD2):c.374T>A (p.Leu125His)	THUMPD2 (L32H +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3326040	NM_025264.5(THUMPD2):c.361A>G (p.Lys121Glu)	THUMPD2 (K121E +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3326036	NM_025264.5(THUMPD2):c.347T>G (p.Leu116Arg)	THUMPD2 (L116R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2535764	NM_025264.5(THUMPD2):c.342T>G (p.Asn114Lys)	THUMPD2 (N21K +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3326035	NM_025264.5(THUMPD2):c.331A>G (p.Ile111Val)	THUMPD2 (I111V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3326034	NM_025264.5(THUMPD2):c.242T>C (p.Ile81Thr)	THUMPD2 (I81T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2369345	NM_025264.5(THUMPD2):c.235C>T (p.Pro79Ser)	THUMPD2 (P79S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2604697	NM_025264.5(THUMPD2):c.199G>T (p.Ala67Ser)	THUMPD2 (A67S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271631	NM_025264.5(THUMPD2):c.172T>A (p.Leu58Met)	THUMPD2 (L58M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547814	NM_025264.5(THUMPD2):c.160A>T (p.Thr54Ser)	THUMPD2 (T54S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177259	NM_025264.5(THUMPD2):c.118G>C (p.Ala40Pro)	THUMPD2 (A40P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2539012	NM_025264.5(THUMPD2):c.107C>T (p.Ala36Val)	THUMPD2 (A36V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330562	NM_025264.5(THUMPD2):c.49C>G (p.Arg17Gly)	THUMPD2 (R17G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357642	NM_025264.5(THUMPD2):c.46G>C (p.Ala16Pro)	THUMPD2 (A16P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364863	NM_025264.5(THUMPD2):c.35C>T (p.Pro12Leu)	THUMPD2 (P12L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177262	NM_025264.5(THUMPD2):c.21G>C (p.Glu7Asp)	THUMPD2 (E7D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2485822	NM_025264.5(THUMPD2):c.16G>A (p.Gly6Arg)	THUMPD2 (G6R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384543	NM_025264.5(THUMPD2):c.5C>T (p.Ser2Leu)	THUMPD2 (S2L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148852	GRCh37/hg19 2p22.1(chr2:39234590-40799474)x3	CDKL4, MAP4K3 +4 more	Copy number gain	not provided	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 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	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 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526463	GRCh37/hg19 2p22.1(chr2:39987132-40349524)	SLC8A1, THUMPD2	Copy number loss	not specified	GUncertain significance
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	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 814239	GRCh37/hg19 2p22.1(chr2:39578669-40167082)x3	THUMPD2, MAP4K3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635956	NC_000002.11:g.39053852_42501893dup	SLC8A1, SOS1 +11 more	Duplication	Neurodevelopmental disorder	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 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
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	RHOQ, RMDN2 +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 226145	GRCh37/hg19 2p22.1(chr2:39982433-40037717)	THUMPD2	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 71