ClinVar for Gene (Select 124404) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317485	NM_144605.5(SEPTIN12):c.907C>G (p.His303Asp)	SEPTIN12 (H257D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317484	NM_144605.5(SEPTIN12):c.529A>T (p.Ile177Phe)	SEPTIN12 (I131F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317483	NM_144605.5(SEPTIN12):c.839A>G (p.His280Arg)	SEPTIN12 (H234R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317482	NM_144605.5(SEPTIN12):c.529A>G (p.Ile177Val)	SEPTIN12 (I131V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317481	NM_144605.5(SEPTIN12):c.545G>A (p.Arg182Gln)	SEPTIN12 (R182Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317480	NM_144605.5(SEPTIN12):c.554G>A (p.Arg185Gln)	SEPTIN12 (R185Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317479	NM_144605.5(SEPTIN12):c.995C>T (p.Pro332Leu)	SEPTIN12 (P286L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317478	NM_144605.5(SEPTIN12):c.446G>A (p.Arg149His)	SEPTIN12 (R149H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317477	NM_144605.5(SEPTIN12):c.130A>G (p.Met44Val)	SEPTIN12 (M44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160090	NM_144605.5(SEPTIN12):c.982G>A (p.Val328Met)	SEPTIN12 (V282M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160089	NM_144605.5(SEPTIN12):c.973C>A (p.Pro325Thr)	SEPTIN12 (P279T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160088	NM_144605.5(SEPTIN12):c.931C>T (p.Arg311Cys)	SEPTIN12 (R265C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160087	NM_144605.5(SEPTIN12):c.914T>C (p.Ile305Thr)	SEPTIN12 (I259T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160086	NM_144605.5(SEPTIN12):c.901A>G (p.Ile301Val)	SEPTIN12 (I301V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160085	NM_144605.5(SEPTIN12):c.788T>A (p.Val263Asp)	SEPTIN12 (V263D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160084	NM_144605.5(SEPTIN12):c.778G>A (p.Gly260Arg)	SEPTIN12 (G260R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160083	NM_144605.5(SEPTIN12):c.700G>A (p.Asp234Asn)	SEPTIN12 (D188N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160082	NM_144605.5(SEPTIN12):c.6C>A (p.Asp2Glu)	SEPTIN12 (D2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160081	NM_144605.5(SEPTIN12):c.698A>G (p.Asn233Ser)	SEPTIN12 (N233S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160080	NM_144605.5(SEPTIN12):c.694A>G (p.Ile232Val)	SEPTIN12 (I232V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160079	NM_144605.5(SEPTIN12):c.690G>C (p.Glu230Asp)	SEPTIN12 (E184D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160078	NM_144605.5(SEPTIN12):c.678G>A (p.Met226Ile)	SEPTIN12 (M226I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160077	NM_144605.5(SEPTIN12):c.551G>A (p.Cys184Tyr)	SEPTIN12 (C184Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160076	NM_144605.5(SEPTIN12):c.544C>T (p.Arg182Trp)	SEPTIN12 (R136W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160075	NM_144605.5(SEPTIN12):c.517C>T (p.Arg173Trp)	SEPTIN12 (R127W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160074	NM_144605.5(SEPTIN12):c.496C>G (p.Pro166Ala)	SEPTIN12 (P166A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160073	NM_144605.5(SEPTIN12):c.484G>A (p.Val162Met)	SEPTIN12 (V162M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160072	NM_144605.5(SEPTIN12):c.472G>C (p.Val158Leu)	SEPTIN12 (V158L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160071	NM_144605.5(SEPTIN12):c.469C>T (p.Arg157Trp)	SEPTIN12 (R157W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160070	NM_144605.5(SEPTIN12):c.452G>A (p.Arg151His)	SEPTIN12 (R151H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160069	NM_144605.5(SEPTIN12):c.41C>T (p.Ser14Leu)	SEPTIN12 (S14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160068	NM_144605.5(SEPTIN12):c.349G>A (p.Gly117Arg)	SEPTIN12 (G117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160067	NM_144605.5(SEPTIN12):c.28C>G (p.Pro10Ala)	SEPTIN12 (P10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160066	NM_144605.5(SEPTIN12):c.283C>A (p.Leu95Met)	SEPTIN12 (L95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160065	NM_144605.5(SEPTIN12):c.17G>A (p.Arg6His)	SEPTIN12 (R6H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160064	NM_144605.5(SEPTIN12):c.110A>C (p.Asp37Ala)	SEPTIN12 (D37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160063	NM_144605.5(SEPTIN12):c.1048G>A (p.Ala350Thr)	SEPTIN12 (A304T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160062	NM_144605.5(SEPTIN12):c.1046G>A (p.Gly349Glu)	SEPTIN12 (G303E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160061	NM_144605.5(SEPTIN12):c.1024C>T (p.Arg342Trp)	SEPTIN12 (R342W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067950	NM_144605.5(SEPTIN12):c.905C>T (p.Thr302Ile)	SEPTIN12 (T256I +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 10	GUncertain significance
Select item 3050551	NM_144605.5(SEPTIN12):c.506G>A (p.Gly169Glu)	SEPTIN12 (G169E)	Single nucleotide variant (missense variant +1 more)	SEPTIN12-related disorder	GLikely benign
Select item 3040240	NM_144605.5(SEPTIN12):c.666C>G (p.Val222=)	SEPTIN12	Single nucleotide variant (synonymous variant)	SEPTIN12-related disorder	GLikely benign
Select item 3033315	NM_144605.5(SEPTIN12):c.744C>T (p.Ala248=)	SEPTIN12	Single nucleotide variant (synonymous variant)	SEPTIN12-related disorder	GLikely benign
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	CORO7, CORO7-PAM16 +52 more	Copy number loss	not provided	GPathogenic
Select item 2684779	GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3	ALG1, ANKS3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2619001	NM_144605.5(SEPTIN12):c.394T>G (p.Tyr132Asp)	SEPTIN12 (Y132D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611659	NM_144605.5(SEPTIN12):c.955C>G (p.His319Asp)	SEPTIN12 (H319D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604688	NM_144605.5(SEPTIN12):c.599C>T (p.Thr200Ile)	SEPTIN12 (T154I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562670	NM_144605.5(SEPTIN12):c.932G>A (p.Arg311His)	SEPTIN12 (R265H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536018	NM_144605.5(SEPTIN12):c.22C>T (p.Pro8Ser)	SEPTIN12 (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526989	NM_144605.5(SEPTIN12):c.860G>C (p.Arg287Thr)	SEPTIN12 (R241T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519817	NM_144605.5(SEPTIN12):c.1007G>A (p.Gly336Glu)	SEPTIN12 (G336E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518994	NM_144605.5(SEPTIN12):c.445C>T (p.Arg149Cys)	SEPTIN12 (R149C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512427	NM_144605.5(SEPTIN12):c.626G>A (p.Arg209His)	SEPTIN12 (R209H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512125	NM_144605.5(SEPTIN12):c.550T>A (p.Cys184Ser)	SEPTIN12 (C138S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498650	NM_144605.5(SEPTIN12):c.745G>A (p.Val249Met)	SEPTIN12 (V203M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475877	NM_144605.5(SEPTIN12):c.583A>G (p.Arg195Gly)	SEPTIN12 (R195G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475425	NM_144605.5(SEPTIN12):c.287C>T (p.Thr96Ile)	SEPTIN12 (T96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	C16orf89, ADCY9 +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526484	GRCh37/hg19 16p13.3(chr16:4541805-5813911)	SEPTIN12, SMIM22 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1291760	NM_144605.5(SEPTIN12):c.166+119A>G	SEPTIN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288572	NM_144605.5(SEPTIN12):c.726+42T>C	SEPTIN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277119	NM_144605.5(SEPTIN12):c.375-255C>T	SEPTIN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275474	NM_144605.5(SEPTIN12):c.375-96G>A	SEPTIN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275443	NM_144605.5(SEPTIN12):c.167-54dup	SEPTIN12	Duplication (intron variant)	not provided	GBenign
Select item 1269838	NM_144605.5(SEPTIN12):c.375-309T>G	SEPTIN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259678	NM_144605.5(SEPTIN12):c.-22-297A>G	SEPTIN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257009	NM_144605.5(SEPTIN12):c.375-273T>C	SEPTIN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248832	NM_144605.5(SEPTIN12):c.726+241A>G	SEPTIN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248462	NM_144605.5(SEPTIN12):c.374+13dup	SEPTIN12	Duplication (intron variant)	not provided	GBenign
Select item 1245832	NM_144605.5(SEPTIN12):c.102T>C (p.Ala34=)	SEPTIN12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1234327	NM_144605.5(SEPTIN12):c.375-99G>A	SEPTIN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228491	NM_144605.5(SEPTIN12):c.727-281C>G	SEPTIN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222481	NM_144605.5(SEPTIN12):c.375-315G>A	SEPTIN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 831384	NC_000016.10:g.(?_3727698)_(4802591_?)dup	CORO7-PAM16, CREBBP +21 more	Duplication	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 685643	GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3	ADCY9, ALG1 +30 more	Copy number gain	not provided	GPathogenic
Select item 657383	NC_000016.10:g.(?_3727698)_(4802591_?)del	LOC130058360, LOC130058361 +66 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	ADCY9, ALG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395287	GRCh37/hg19 16p13.3(chr16:4740929-4950995)x1	ANKS3, DNAAF8 +9 more	Copy number loss	See cases	GUncertain significance
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic

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