15450[HGNC] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 151420	GRCh38/hg38 2p11.2(chr2:85179123-85369264)x3	ELMOD3, LOC102724579 +11 more	Copy number gain	See cases	GUncertain significance
Select item 2530323	NM_006464.4(TGOLN2):c.*42T>C	TGOLN2 (W472R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176784	NM_006464.4(TGOLN2):c.1309-7C>T	TGOLN2 (P440L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3176783	NM_006464.4(TGOLN2):c.1220G>A (p.Arg407Gln)	TGOLN2 (R349Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260380	NM_006464.4(TGOLN2):c.1178C>G (p.Ala393Gly)	TGOLN2 (A335G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176782	NM_006464.4(TGOLN2):c.1137C>G (p.Ser379Arg)	LOC129934200, TGOLN2 (S321R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325766	NM_006464.4(TGOLN2):c.1108C>G (p.Leu370Val)	LOC129934200, TGOLN2 (L312V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406770	NM_006464.4(TGOLN2):c.1028A>G (p.Lys343Arg)	LOC129934200, TGOLN2 (K343R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542385	NM_006464.4(TGOLN2):c.982G>A (p.Asp328Asn)	LOC129934200, TGOLN2 (D270N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176795	NM_006464.4(TGOLN2):c.934G>T (p.Val312Phe)	TGOLN2 (V312F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210518	NM_006464.4(TGOLN2):c.934G>A (p.Val312Ile)	TGOLN2 (V312I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204723	NM_006464.4(TGOLN2):c.827C>G (p.Pro276Arg)	TGOLN2 (P276R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603843	NM_006464.4(TGOLN2):c.781G>A (p.Asp261Asn)	TGOLN2 (D261N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325767	NM_006464.4(TGOLN2):c.776G>C (p.Arg259Pro)	TGOLN2 (R259P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521885	NM_006464.4(TGOLN2):c.767A>C (p.Gln256Pro)	TGOLN2 (Q256P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402280	NM_006464.4(TGOLN2):c.760C>G (p.Pro254Ala)	TGOLN2 (P254A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289882	NM_006464.4(TGOLN2):c.719C>G (p.Ala240Gly)	LOC129934201, TGOLN2 (A240G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176794	NM_006464.4(TGOLN2):c.716G>T (p.Gly239Val)	LOC129934201, TGOLN2 (G239V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288392	NM_006464.4(TGOLN2):c.655G>C (p.Asp219His)	LOC129934201, TGOLN2 (D219H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176792	NM_006464.4(TGOLN2):c.601C>G (p.Gln201Glu)	LOC129934201, TGOLN2 (Q201E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176790	NM_006464.4(TGOLN2):c.589G>A (p.Gly197Ser)	LOC129934201, TGOLN2 (G197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468392	NM_006464.4(TGOLN2):c.506G>T (p.Gly169Val)	TGOLN2 (G169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176789	NM_006464.4(TGOLN2):c.487G>A (p.Asp163Asn)	TGOLN2 (D163N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617851	NM_006464.4(TGOLN2):c.449G>T (p.Ser150Ile)	TGOLN2 (S150I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251088	NM_006464.4(TGOLN2):c.435G>T (p.Gln145His)	TGOLN2 (Q145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257794	NM_006464.4(TGOLN2):c.356C>G (p.Thr119Arg)	TGOLN2 (T119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490731	NM_006464.4(TGOLN2):c.355A>G (p.Thr119Ala)	TGOLN2 (T119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554019	NM_006464.4(TGOLN2):c.350A>G (p.Gln117Arg)	TGOLN2 (Q117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176786	NM_006464.4(TGOLN2):c.289A>G (p.Lys97Glu)	TGOLN2 (K97E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176785	NM_006464.4(TGOLN2):c.287A>G (p.Asn96Ser)	TGOLN2 (N96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283306	NM_006464.4(TGOLN2):c.241C>T (p.Pro81Ser)	TGOLN2 (P81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600694	NM_006464.4(TGOLN2):c.173C>T (p.Pro58Leu)	TGOLN2 (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176793	NM_006464.4(TGOLN2):c.65C>T (p.Ala22Val)	TGOLN2 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299465	NM_006464.4(TGOLN2):c.55C>G (p.Pro19Ala)	TGOLN2 (P19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176788	NM_006464.4(TGOLN2):c.38C>T (p.Ala13Val)	TGOLN2 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391986	GRCh37/hg19 2p11.2(chr2:85229278-85566388)x3	KCMF1, TCF7L1 +1 more	Copy number gain	not provided	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 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic
Select item 814279	GRCh37/hg19 2p11.2(chr2:85401388-85615492)x3	RETSAT, TGOLN2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814278	GRCh37/hg19 2p11.2(chr2:85357332-85685465)x3	SH2D6, TCF7L1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562661	GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3	MAT2A, TCF7L1 +22 more	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	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 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic

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Items: 53