ClinVar for Gene (Select 4908) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301238	NM_001102654.2(NTF3):c.640G>A (p.Val214Ile)	NTF3 (V214I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301237	NM_001102654.2(NTF3):c.191A>C (p.Gln64Pro)	NTF3 (Q51P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202553	NM_001102654.2(NTF3):c.101T>C (p.Met34Thr)	NTF3 (M34T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202551	NM_001102654.2(NTF3):c.476G>T (p.Arg159Leu)	NTF3 (R159L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202550	NM_001102654.2(NTF3):c.257A>T (p.Glu86Val)	NTF3 (E73V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642596	NM_001102654.2(NTF3):c.657G>A (p.Arg219=)	NTF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621433	NM_001102654.2(NTF3):c.628G>A (p.Glu210Lys)	NTF3 (E197K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618280	NM_001102654.2(NTF3):c.365G>A (p.Ser122Asn)	NTF3 (S109N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547542	NM_001102654.2(NTF3):c.389T>C (p.Leu130Ser)	NTF3 (L117S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475465	NM_001102654.2(NTF3):c.445C>G (p.Arg149Gly)	NTF3 (R136G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2385191	NM_001102654.2(NTF3):c.301A>G (p.Met101Val)	NTF3 (M101V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346403	NM_001102654.2(NTF3):c.248G>A (p.Arg83Gln)	NTF3 (R70Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320095	NM_001102654.2(NTF3):c.232A>G (p.Lys78Glu)	NTF3 (K78E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242992	NM_001102654.2(NTF3):c.397A>C (p.Met133Leu)	NTF3 (M120L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239021	NM_001102654.2(NTF3):c.446G>A (p.Arg149Gln)	NTF3 (R136Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 998926	NC_000012.11:g.(?_4479509)_(6235003_?)dup	ANO2, DYRK4 +12 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 784229	NM_001102654.2(NTF3):c.726A>G (p.Ser242=)	NTF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780146	NM_001102654.2(NTF3):c.648C>T (p.Asn216=)	NTF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745236	NM_001102654.2(NTF3):c.585C>T (p.Gly195=)	NTF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717685	NM_001102654.2(NTF3):c.309C>T (p.Thr103=)	NTF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687115	GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	ADIPOR2, AKAP3 +44 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 599416	NM_001102654.2(NTF3):c.266G>A (p.Gly89Glu)	NTF3 (G89E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 563987	GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	ADIPOR2, AKAP3 +43 more	Copy number loss	not provided	GPathogenic
Select item 563986	GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563985	GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563976	GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1	GALNT8, NTF3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395276	GRCh37/hg19 12p13.31(chr12:5578947-5603350)x3	NTF3	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221486	GRCh38/hg38 12p13.32-13.31(chr12:4772521-5854093)x1	LOC124625890, LOC126861422 +36 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221368	chr12:4920767-5603935 complex variant	KCNA1, KCNA5 +2 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 190264	NM_001102654.2(NTF3):c.265G>A (p.Gly89Arg)	NTF3 (G89R +1 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 152634	GRCh38/hg38 12p13.31(chr12:5468308-5516206)x3	LOC126861428, NTF3	Copy number gain	See cases	GUncertain significance
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 58207	GRCh38/hg38 12p13.32-13.31(chr12:4832052-5947324)x3	ANO2, KCNA1 +33 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 75